Current Bibliographies in Medicine 97-2

Genetic Testing for Cystic Fibrosis

January 1989 through February 1997

1224 Citations

Prepared by
Cynthia B. Love, M.L.S., National Library of Medicine
Elizabeth J. Thomson, M.S., R.N., National Human Genome Research Institute

1997 March

U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES
Public Health Service
National Institutes of Health

National Library of Medicine
Reference Section
8600 Rockville Pike
Bethesda, Maryland 20894

• Series Note
• Table of Contents for Genetic testing for cystic fibrosis
• Introduction to Genetic testing for cystic fibrosis
• Sample Citations

Series Note

Each bibliography in the Current Bibliographies in Medicine (CBM) series covers a distinct subject area of biomedicine and is intended to fulfill a current awareness function. Citations are usually derived from searching a variety of online databases. NLM databases utilized include MEDLINE®, AVLINE®, BIOETHICSLINE®, CANCERLIT®, CATLINE®, HEALTHSTAR^tm, POPLINE^tm, and TOXLINE®. The only criterion for the inclusion of a particular published work is its relevance to the topic being presented; the format, ownership, or location of the material is not considered.

Other publications in the Current Bibliographies in Medicine series are available at no cost to anyone with Internet access through the Library's World Wide Web site at http://www.nlm.nih.gov/pubs/resources.html.

Comments and suggestions on this series may be addressed to:

Karen Patrias, Editor
Current Bibliographies in Medicine
Reference Section
National Library of Medicine
Bethesda, MD 20894
Phone: 301-496-6097
Fax: 301-402-1384
mailto:ref@nlm.nih.gov

GRATEFUL MED® and INTERNET GRATEFUL MED®

To make online searching easier and more efficient, the Library offers GRATEFUL MED, microcomputer-based software that provides a user-friendly interface to most NLM databases. This software was specifically developed for health professionals and features multiple choice menus and "fill in the blank" screens for easy search preparation. GRATEFUL MED runs on an IBM PC (or IBM-compatible) with DOS 2.0 or Windows or on a Macintosh, and requires a Hayes (or Hayes-compatible) modem. It may be purchased from the National Technical Information Service (800-423-9255) in Springfield, Virginia, for $29.95 plus shipping. Request PB96-501812 (Windows), PB92-105444 (DOS), or PB93-502433 (Macintosh).

INTERNET GRATEFUL MED is available from the World Wide Web. The user with Internet access need only point a compatible Web browser (Netscape Navigator is strongly recommended) to http://igm.nlm.nih.gov/ and register online for a password. No other software at the user end is required.

Table of Contents

Series Note

Introduction

Sample Citations

Bibliography:

Cystic Fibrosis and Genetics

Molecular Biology of Cystic Fibrosis

Genotype/Phenotype Correlations in Cystic Fibrosis Patients

Genetic Screening and Testing for Cystic Fibrosis

Genetic Screening and Testing for Cystic Fibrosis - Overview

Cystic Fibrosis Screening Policy Statements

Genetic Testing Technologies for Cystic Fibrosis

Screening for Cystic Fibrosis Gene Carriers

Preimplantation Screening for Cystic Fibrosis

Prenatal Screening for Cystic Fibrosis

Neonatal Screening for Cystic Fibrosis

Economics of Cystic Fibrosis Screening and Testing

Ethical, Legal, and Social Issues of Cystic Fibrosis Screening and Testing

Genetic Epidemiology of Cystic Fibrosis

Global Epidemiology of Cystic Fibrosis

Epidemiology of Cystic Fibrosis - Europe

Epidemiology of Cystic Fibrosis - North America

Epidemiology of Cystic Fibrosis - South America

Epidemiology of Cystic Fibrosis - Asia

Epidemiology of Cystic Fibrosis - Australia

Epidemiology of Cystic Fibrosis - Africa

Gene Therapy for Cystic Fibrosis

Introduction

GENETIC TESTING FOR CYSTIC FIBROSIS

This bibliography was prepared in support of a National Institutes of Health Consensus Development Conference on Genetic Testing for Cystic Fibrosis held in Bethesda, Maryland on April 14-16, 1997. The following questions were considered and reported on by the Consensus Development Conference panel:

• What is the current state of knowledge regarding cystic fibrosis natural history, epidemiology, genotype-phenotype correlations, treatment, and genetic testing in various populations?
• What has been learned about genetic testing for cystic fibrosis regarding knowledge and attitudes of health professionals and the public, interest and demand, risks and benefits, effectiveness, cost, and impact?
• Should cystic fibrosis carrier testing be offered to individuals with a family history of cystic fibrosis, or adults in the preconception or prenatal period, or the general population?
• What are the optimal practices for cystic fibrosis genetic testing (setting, timing, and the practices of education, consent, and counseling)?
• What should be the future directions for research relevant to genetic testing for cystic fibrosis and, more broadly, for research and public policy on genetic testing?

This bibliography includes citations to medical journal articles in English published since the discovery of the cystic fibrosis gene in 1989. The bibliography addresses selected topics from the panel's questions: all aspects of genetic testing for cystic fibrosis; molecular biology of cystic fibrosis; genetic epidemiology of cystic fibrosis; genotype-phenotype correlations; and research on gene therapy. Articles are not included on the natural history of cystic fibrosis, clinical research, treat ments other than gene therapy, animal research, or case reports of unique or rare cystic fibrosis gene mutations. The compilers would like to thank Joy Boyer for her assistance.

Any reproductions of this bibliography, in whole or in part, must include all credits. If you wish to cite this bibliography, the correct format is:
Love, Cynthia B.; Thomson, Elizabeth J., compilers. Genetic screening for cystic fibrosis [bibliography online]. Bethesda (MD): National Library of Medicine; 1997 Mar [insert cited year month day in brackets]. [insert no. of screens or lines in bracke ts]. (Current bibliographies in medicine; no. 97-2). 2200 citations from January 1989 through February 1997. Available from: URL http://www.nlm.nih.gov/pubs/resources.html

Sample Citations

Citations are formatted according to the rules established for Index Medicus ®. Sample journal and monograph citations appear below. For journal articles written in a foreign language, the English translation of the title is placed in brackets; for monographs, the title is given in the original language. In both cases the language of publication is shown by a three letter abbreviation appearing at the end of the citation.

Journal Article:

Example:
Fisher JD, Fisher WA. Changing AIDS-risk behavior. Psychol Bull 1992 May;111(3):455-74.

Order, with separating punctuation:
Authors. Article title. Abbreviated Journal Title Date;Volume(Issue):Pages.

For details of the formats used for references, see the following publication:
Patrias, Karen. National Library of Medicine recommended formats for bibliographic citation. Bethesda (MD): The Library; 1991 Apr. Available from: NTIS, Springfield, VA; PB91-182030.

CYSTIC FIBROSIS AND GENETICS

Boyle PJ. Public priorities for genetic services. Hastings Cent Rep 1995 May-Jun;25(3 Suppl):S1-2.

Boyle PJ. Shaping priorities in genetic medicine. Hastings Cent Rep 1995 May-Jun;25(3 Suppl):S2-8.

Briars G, Warner J. Cystic fibrosis. Practitioner 1993 Oct;237(1531):765-71.

Coghlan A. Vital research caught in patent crossfire [news]. New Sci 1993 Jan 23;137(1857):4.

Collins FS. Medical and ethical consequences of the human genome project. J Clin Ethics 1991 Winter;2(4):260-7.

Corrado G, Palmisano P, Cavaliere M, Capuano M, Frandina G, Antonelli M. Cystic fibrosis: genetics and clinical applications. Riv Eur Sci Med Farmacol 1995 Mar-Jun;17(2-3):67-76.

Cystic fibrosis: prospects for screening and therapy [editorial]. Lancet 1990 Jan 13;335(8681):79-80.

Davies K. Cystic fibrosis. Complementary endeavours [news]. Nature 1990 Nov 8;348(6297):110-1.

Davis PB, Drumm M, Konstan MW. Cystic fibrosis. Am J Respir Crit Care Med 1996 Nov;154(5):1229-56.

Dorin JR, Porteous DJ. Cystic fibrosis--the way forward from the gene. Trends Biotechnol 1991 Feb;9(2):48-52.

Fibison WJ. The nursing perspective: genetic screening and testing. J Sch Nurs 1993 Dec;9(4):16-24.

Gasparini P. Genetics of cystic fibrosis. Dig Dis 1991;9(3):179-88.

Geller G. Cystic fibrosis and the pediatric caregiver: benefits and burdens of genetic technology. Pediatr Nurs 1995 Jan-Feb;21(1):57-61.

Goodfellow PN. Cystic fibrosis: steady steps lead to the gene [news]. Nature 1989 Sep 14;341(6238):102-3. Comment in: Nature 1989 Nov 9;342(6246):131.

Guyer RL, Koshland DE Jr. The Molecule of the Year. Science 1989 Dec 22;246(4937):1543-6.

Halley DJ, Bijman J, de Jonge HR, Sinaasappel M, Neijens HJ, Niermeijer MF. The cystic fibrosis defect approached from different angles--new perspectives on the gene, the chloride channel, diagnosis and therapy. Eur J Pediatr 1990 Jul;149(10):670-7.

Harris R, Elles R, Craufurd D, Dodge A, Ivinson A, Hodgkinson K, Mountford R, Schwartz M, Strachan T, Read A. Molecular genetics in the National Health Service in Britain. J Med Genet 1989 Apr;26(4):219-25. Comment in: J Med Genet 1989 Dec;26(12):794- 6.

Heijerman HG, van der Laag J, de Jongste JC, Bakker W. Present and future aspects of cystic fibrosis. Neth J Med 1995 Jun;46(6):263-5.

Hill R, Stanisstreet M, Boyes E, O'Sullivan H. Public lacks knowledge about genetic testing and gene therapy [letter]. BMJ 1995 Nov 18;311(7016):1370. Comment on: BMJ 1995 Sep 2;311(7005):579-80.

Hooper PF, Dreesen TD. A primer of current molecular genetic strategies for clinicians. Arch Otolaryngol Head Neck Surg 1993 Oct;119(10):1085-94.

Javed AA, Huang Y, Bombard AT. Molecular analysis of genetic diseases: an overview for clinicians. J Assoc Acad Minor Phys 1995;6(1):15-27.

Knight RA. Genetics of cystic fibrosis. Br J Hosp Med 1992 Apr 1-14;47(7):502-6.

Knol K. Cystic fibrosis: the past 25 years. Neth J Med 1995 Jun;46(6):266-70.

Krauss RD, Rado TA. Current approaches to the molecular and physiological basis of cystic fibrosis. Am J Med Sci 1989 Nov;298(5):334-41.

Lindahl R, Parry R. Molecular medicine: a primer for clinicians. Part IV: Cystic fibrosis and the power and limitations of molecular medicine. S D J Med 1993 Nov;46(11):393-8.

Marelich GP, Cross CE. Cystic fibrosis in adults. From researcher to practitioner. West J Med 1996 Apr;164(4):321-34. Comment in: West J Med 1996 Apr;164(4):361-2.

Marino CR, Gorelick FS. Scientific advances in cystic fibrosis. Gastroenterology 1992 Aug;103(2):681-93.

Marx JL. The CF gene hits the news [news]. Science 1989 Sep 1;245(4921):924.

Marx JL. The cystic fibrosis gene is found [news]. Science 1989 Sep 1;245(4921):923-5.

McIntosh I, Cutting GR. Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J 1992 Jul;6(10):2775-82.

Merz B. Capture of elusive cystic fibrosis gene prompts new approaches to treatment [news]. JAMA 1989 Sep 22-29;262(12):1567, 1573.

Merz B. Walking, jumping, collaboration, and competition characterize race to cystic fibrosis gene [news]. JAMA 1989 Sep 22-29;262(12):1573-4.

Murray TH. Ethical issues in human genome research. FASEB J 1991 Jan;5(1):55-60.

Nahata MC. Discovery of the gene defect in cystic fibrosis: implications for diagnosis and treatment. Clin Pharm 1990 Sep;9(9):716-7.

Natowicz MR, Alper JS. Genetic screening: triumphs, problems, and controversies. J Public Health Policy 1991 Winter;12(4):475-91.

Novelli G, Sangiuolo F, Maceratesi P, Dallapiccola B. The up-to-date molecular genetics of cystic fibrosis. Biomed Pharmacother 1994;48(10):455-63.

Peters TJ, Owen G, Newcombe RG. Identification of the cystic fibrosis gene [letter]. BMJ 1990 May 5;300(6733):1198.

Porteous DJ. Cystic fibrosis: five years beyond the gene. J Inherit Metab Dis 1995;18(4):491-4.

Porteous DJ, Dorin JR. Cystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatment. Thorax 1991 Jan;46(1):46-55.

Pritchard DJ. Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles. Hum Genet 1991 Oct;87(6):671-6.

Quinton PM. Cystic fibrosis. Righting the wrong protein [news]. Nature 1990 Sep 20;347(6290):226. Comments on: Nature 1990 Sep 27;347(6291):358-63; Nature 1990 Sep 27;347(6291):382-6.

Ramsay M. Cystic fibrosis--controversial issues. S Afr Med J 1992 Jul;82(1):4-5.

Roberts L. CF screening delayed for awhile, perhaps forever [news]. Science 1990 Mar 16;247(4948):1296-7.

Roberts L. Cystic fibrosis pilot projects go begging [news]. Science 1990 Nov 23;250(4984):1076-7.

Roberts L. To test or not to test? [news]. Science 1990 Jan 5;247(4938):17-9.

Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989 Sep 8;245(4922):1059-65.

Scambler PJ. The cystic fibrosis gene. Arch Dis Child 1989 Dec;64(12):1647-8.

Slack J, Houlston RS, Marteau T. Identification of the cystic fibrosis gene [letter]. BMJ 1990 Mar 24;300(6727):812. Comment in: BMJ 1990 Apr 28;300(6732):1141.

Super M. The gene defect in cystic fibrosis and clinical applications of the knowledge. J R Soc Med 1992;85 Suppl 19:6-8.

Van Asperen P, Brown J. Cystic fibrosis: towards the 21st century [editorial]. Med J Aust 1995 Oct 16;163(8):397-8.

van der Laag J. The patient with cystic fibrosis in the next 25 years. Neth J Med 1995 Jun;46(6):314-8.

Wallis C. Cystic fibrosis: paediatric aspects. Br J Hosp Med 1996 Mar 6-19;55(5):241-7.

Welsh MJ. The path of discovery in understanding the biology of cystic fibrosis and approaches to therapy. Am J Gastroenterol 1994 Aug;89(8 Suppl):S97-105.

Williamson R. Cystic fibrosis--a strategy for the future. Adv Exp Med Biol 1991;290:1-7.

MOLECULAR BIOLOGY OF CYSTIC FIBROSIS

Arispe N, Rojas E, Hartman J, Sorscher EJ, Pollard HB. Intrinsic anion channel activity of the recombinant first nucleotide binding fold domain of the cystic fibrosis transmembrane regulator protein. Proc Natl Acad Sci U S A 1992 Mar 1;89(5):1539-43.

Bardon A, Ceder O, Kollberg H. Ribonuclease and its inhibitor in red blood cells in CF. Acta Univ Carol [Med] (Praha) 1990;36(1-4):73-4.

Bargon J, Trapnell BC, Yoshimura K, Dalemans W, Pavirani A, Lecocq JP, Crystal RG. Expression of the cystic fibrosis transmembrane conductance regulator gene can be regulated by protein kinase C. J Biol Chem 1992 Aug 15;267(23):16056-60.

Barinaga M. Novel function discovered for the cystic fibrosis gene [news]. Science 1992 Apr 24;256(5056):444-5. Comment on: Science 1992 Apr 24;256(5056):530-2.

Barker PE. Gene mapping and cystic fibrosis. Am J Med Sci 1990 Jan;299(1):69-72.

Barrett KE. More news on the cystic fibrosis gene. Gastroenterology 1991 Mar;100(3):843-4.

Barrett KE, Dharmsathaphorn K. The cystic fibrosis gene. Gastroenterology 1990 Feb;98(2):535-6.

Beardsley TM. Winning candidate. A painstaking search identifies the gene for cystic fibrosis. Sci Am 1989 Nov;261(5):28-30.

Bell CL, Reddy MM, Quinton PM. Reversed anion selectivity in cultured cystic fibrosis sweat duct cells. Am J Physiol 1992 Jan;262(1 Pt 1):C32-8.

Bertrand F, Veissiere D, Hermelin B, Paul A, Capeau J, Picard J, Cherqui G. Phosphorylation of vimentin is an intermediate step in protein kinase C-mediated glycoconjugate secretion. Am J Physiol 1994 Mar;266(3 Pt 1):C611-21.

Bienvenu T, Hubert D, Fonknechten N, Dusser D, Kaplan JC, Beldjord C. Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene. Hum Genet 1994 Jul;94(1):65-8.

Bremer S, Hoof T, Wilke M, Busche R, Scholte B, Riordan JR, Maass G, Tummler B. Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcrip ts in human epithelia. Eur J Biochem 1992 May 15;206(1):137-49.

Breuer W, Glickstein H, Kartner N, Riordan JR, Ausiello DA, Cabantchik IZ. Protein kinase C mediates down-regulation of cystic fibrosis transmembrane conductance regulator levels in epithelial cells. J Biol Chem 1993 Jul 5;268(19):13935-9.

Breuer W, Kartner N, Riordan JR, Cabantchik ZI. Induction of expression of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 1992 May 25;267(15):10465-9.

Brody JS. Discovery of the cystic fibrosis gene: the interface of basic science and clinical medicine. Am J Respir Cell Mol Biol 1989 Nov;1(5):347-8.

Buchwald M. Isolating the cystic fibrosis gene and possibilities for treatment. Del Med J 1990 Oct;62(10):1275-8, 1281.

Buchwald M, Sood R, Auerbach W. Regulation of expression of CFTR in human intestinal epithelial cells. Adv Exp Med Biol 1991;290:241-50; discussion 250-2.

Burch LH, Talbot CR, Knowles MR, Canessa CM, Rossier BC, Boucher RC. Relative expression of the human epithelial Na+ channel subunits in normal and cystic fibrosis airways. Am J Physiol 1995 Aug;269(2 Pt 1):C511-8.

Burns J, Melmer G, Rommens JM, Riordan JR, Buchwald M. Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells. Hum Genet 1990 Jul;85(2):151-6.

Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, Smith AE. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990 Nov 16;63(4):827-34.

Chopra DP, Reddy L, Gupta SK, Wan L, Mathieu PA, Shoemaker RL, Rhim JS. Differentiation of immortalized epithelial cells derived from cystic fibrosis airway submucosal glands. In Vitro Cell Dev Biol Anim 1994 Aug;30A(8):539-46.

Chou JL, Rozmahel R, Tsui LC. Characterization of the promoter region of the cystic fibrosis transmembrane conductance regulator gene. J Biol Chem 1991 Dec 25;266(36):24471-6.

Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993 Feb;3(2):151-6.

Chu CS, Trapnell BC, Curristin SM, Cutting GR, Crystal RG. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J Clin Invest 1992 Sep;90(3):785-90.

Coleman L, Harris A. Immortalization of male genital duct epithelium: an assay system for the cystic fibrosis gene. J Cell Sci 1991 Jan;98 ( Pt 1):85-9.

Collins FS. Identifying human disease genes by positional cloning. Harvey Lect 1990-91;86:149-64.

Collins FS, Riordan JR, Tsui LC. The cystic fibrosis gene: isolation and significance. Hosp Pract (Off Ed) 1990 Oct 15;25(10):47-57.

Cremonesi L, Seia M, Magnani C, Ferrari M. Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis [corrected and republished article originally printed in Clin Chem 1991 Aug;37(8):1447-8]. Clin Chem 1991 Nov;37( 11):1967.

Cuthbert AW. The biochemical defect in cystic fibrosis. J R Soc Med 1992;85 Suppl 19:2-5.

Cuthbert AW. Cystic fibrosis. 4. Abnormalities of airway epithelial function and the implications of the discovery of the cystic fibrosis gene. Thorax 1991 Feb;46(2):124-30.

Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 1990 Jul 26;346(6282):36 6-9. Comment in: Nature 1990 Jul 26;346(6282):312-3.

Cystic fibrosis: closing the gap [editorial]. Lancet 1990 Sep 1;336(8714):539-40. Comments in: Lancet 1990 Oct 13;336(8720):938; Lancet 1990 Nov 17;336(8725):1224-5.

Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, Crystal RG, Pavirani A, Lecocq JP, Lazdunski M. Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature 1991 Dec 19-26;354(6354):526-8. Commen t in: Nature 1991 Dec 19-26;354(6354):503-4.

Davis PB. Molecular and cell biology of cystic fibrosis. J Appl Physiol 1991 May;70(5):2331-3.

Davis PB, Byard PJ. Heterozygotes for cystic fibrosis: models for study of airway and autonomic reactivity. J Appl Physiol 1989 May;66(5):2124-8.

Drumm ML, Collins FS. Molecular biology of cystic fibrosis. Mol Genet Med 1993;3:33-68.

Dupuit F, Kalin N, Brezillon S, Hinnrasky J, Tummler B, Puchelle E. CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium. J Clin Invest 1995 Sep;96(3):1601-11.

Eidelman O, Guay-Broder C, van Galen PJ, Jacobson KA, Fox C, Turner RJ, Cabantchik ZI, Pollard HB. A1 adenosine-receptor antagonists activate chloride efflux from cystic fibrosis cells. Proc Natl Acad Sci U S A 1992 Jun 15;89(12):5562-6.

Engelhardt JF, Zepeda M, Cohn JA, Yankaskas JR, Wilson JM. Expression of the cystic fibrosis gene in adult human lung. J Clin Invest 1994 Feb;93(2):737-49.

Ferec C. Molecular biology of cystic fibrosis: state of the art. Pediatr Pulmonol Suppl 1995;11:61-2.

Fonknechten N, Bienvenu T, Moriscot C, Beldjord C, Kahn A, Figarella C, Kaplan JC. Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals. Hum Mol Genet 1993 Dec;2(12):2141-2.

Fonknechten N, Chomel JC, Kitzis A, Kahn A, Kaplan JC. Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene. Hum Mol Genet 1992 Jul;1(4):281-2.

Forstner GG. Toward defining the function of the cystic fibrosis gene product. J Pediatr Gastroenterol Nutr 1991 Nov;13(4):432-3.

Foulkes AG, Harris A. Localization of expression of the cystic fibrosis gene in human pancreatic development. Pancreas 1993 Jan;8(1):3-6.

Frizzell RA. Functions of the cystic fibrosis transmembrane conductance regulator protein. Am J Respir Crit Care Med 1995 Mar;151(3 Pt 2):S54-8.

Frizzell RA, Cliff WH. Cystic fibrosis. Back to the chloride channel [news]. Nature 1991 Mar 28;350(6316):277.

Gibson AL, Wagner LM, Collins FS, Oxender DL. A bacterial system for investigating transport effects of cystic fibrosis--associated mutations. Science 1991 Oct 4;254(5028):109-11.

Gregory RJ, Cheng SH, Rich DP, Marshall J, Paul S, Hehir K, Ostedgaard L, Klinger KW, Welsh MJ, Smith AE. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature 1990 Sep 27;347(6291):382-6. Comment in: Natur e 1990 Sep 20;347(6290):226.

Guggino WB. Outwardly rectifying chloride channels and CF: a divorce and remarriage. J Bioenerg Biomembr 1993 Feb;25(1):27-35.

Hamosh A, Rosenstein BJ, Cutting GR. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Hum Mol Genet 1992 Oct;1(7):542-4.

Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelia l cells of patients with cystic fibrosis. J Clin Invest 1991 Dec;88(6):1880-5.

Harris A. Cystic fibrosis gene. Br Med Bull 1992 Oct;48(4):738-53.

Harris A. Cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts [letter]. EMBO J 1992 Jan;11(1):379-80. Comment on: EMBO J 1991 Jun;10(6):1355-63.

Harris A, Argent BE. The cystic fibrosis gene and its product CFTR. Semin Cell Biol 1993 Feb;4(1):37-44.

Harris A, Chalkley G, Goodman S, Coleman L. Expression of the cystic fibrosis gene in human development. Development 1991 Sep;113(1):305-10.

Harsch AD, Xu J, Bevins CL, Glick MC, Scanlin TF. Preparation of isolated surface membranes from cystic fibrosis airway epithelial cells. Chest 1992 Mar;101(3 Suppl):58S-60S.

Heng HH, Shi XM, Tsui LC. Fluorescence in situ hybridization mapping of the cystic fibrosis transmembrane conductance regulator (CFTR) gene to 7q31.3. Cytogenet Cell Genet 1993;62(2-3):108-9.

Heng HH, Tsui LC. Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 1993 May;102(5):325-32.

Higgins C. Cystic fibrosis. Chloride channels revisited [news]. Nature 1992 Aug 13;358(6387):536. Comment on: Nature 1992 Aug 13;358(6387):581-4.

Higgins C. Cystic fibrosis: protein joins transport family [news]. Nature 1989 Sep 14;341(6238):103.

Higgins CF. Cystic fibrosis transmembrane conductance regulator (CFTR). Br Med Bull 1992 Oct;48(4):754-65.

Higgins CF, Hyde SC. Cystic fibrosis. Channelling our thoughts [news]. Nature 1991 Jul 18;352(6332):194-5.

Hollingsworth MA, Batra SK, Qi WN, Yankaskas JR. MUC1 mucin mRNA expression in cultured human nasal and bronchial epithelial cells. Am J Respir Cell Mol Biol 1992 May;6(5):516-20.

Hollingsworth MA, Closken C, Harris A, McDonald CD, Pahwa GS, Maher LJ 3rd. A nuclear factor that binds purine-rich, single-stranded oligonucleotides derived from S1-sensitive elements upstream of the CFTR gene and the MUC1 gene. Nucleic Acids Res 1994 Apr 11;22(7):1138-46.

Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 1996 Apr;2(4):467-9. Comments in: Nat Med 1996 Apr;2(4):392-3; Nat Med 1996 Jun;2(6):608-9.

Hughes D, Hill A, Redmond A, Nevin N, Graham C. Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families. Hum Genet 1995 Apr;95(4):462-4.

Iannuzzi MC, Collins FS. Reverse genetics and cystic fibrosis. Am J Respir Cell Mol Biol 1990 Apr;2(4):309-16.

The identification of the CF (cystic fibrosis) gene. Recent progress and new research strategies. Adv Exp Med Biol 1991;290:1-409.

Identification of the cystic fibrosis gene [letter]. BMJ 1990 Apr 14;300(6730):1015.

Jefferson DM, Valentich JD, Marini FC, Grubman SA, Iannuzzi MC, Dorkin HL, Li M, Klinger KW, Welsh MJ. Expression of normal and cystic fibrosis phenotypes by continuous airway epithelial cell lines. Am J Physiol 1990 Dec;259(6 Pt 1):L496-505.

Johnson JP, Louie E, Lewiston NJ, Wine JJ. beta-adrenergic sweat responses in cystic fibrosis heterozygotes with and without the delta F508 allele. Pediatr Res 1991 Jun;29(6):525-8.

Kersting U, Kersting D, Spring KR. Ketoconazole activates Cl- conductance and blocks Cl- and fluid absorption by cultured cystic fibrosis (CFPAC-1) cells. Proc Natl Acad Sci U S A 1993 May 1;90(9):4047-51.

Klinger KW, Stanislovitis P, Merrill J, Horn GT. Molecular and genetic analyses at the CF locus. Adv Exp Med Biol 1991;290:39-43; discussion 43-4.

Knight RA, Hodson ME. Identification of the cystic fibrosis gene. BMJ 1990 Feb 10;300(6721):345-6.

Koh J, Sferra TJ, Collins FS. Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity. J Biol Chem 1993 Jul 25;268(21):15912-21.

Krane DE, Hartl DL, Ochman H. Rapid determination of nucleotide content and its application to the study of genome structure. Nucleic Acids Res 1991 Oct 11;19(19):5181-5.

Krauss RD, Berta G, Rado TA, Bubien JK. Antisense oligonucleotides to CFTR confer a cystic fibrosis phenotype on B lymphocytes. Am J Physiol 1992 Dec;263(6 Pt 1):C1147-51.

Krolczyk AJ, Bear CE, Lai PF, Schimmer BP. Effects of mutations in cAMP-dependent protein kinase on chloride efflux in Caco-2 human colonic carcinoma cells. J Cell Physiol 1995 Jan;162(1):64-73.

Kunzelmann K, Lei DC, Eng K, Escobar LC, Koslowsky T, Gruenert DC. Epithelial cell specific properties and genetic complementation in a delta F508 cystic fibrosis nasal polyp cell line. In Vitro Cell Dev Biol Anim 1995 Sep;31(8):617-24.

Kunzelmann K, Schwiebert EM, Zeitlin PL, Kuo WL, Stanton BA, Gruenert DC. An immortalized cystic fibrosis tracheal epithelial cell line homozygous for the delta F508 CFTR mutation. Am J Respir Cell Mol Biol 1993 May;8(5):522-9.

Levitan IB. The basic defect in cystic fibrosis. Science 1989 Jun 23;244(4911):1423.

Logan J, Hiestand D, Daram P, Huang Z, Muccio DD, Hartman J, Haley B, Cook WJ, Sorscher EJ. Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding. J Clin Invest 1994 Jul;94(1):228-36.

Luisetti M. Role of CFTR gene in the regulation of airway mucus composition. Monaldi Arch Chest Dis 1996 Aug;51(4):329-30.

McCoy DE, Schwiebert EM, Karlson KH, Spielman WS, Stanton BA. Identification and function of A1 adenosine receptors in normal and cystic fibrosis human airway epithelial cells. Am J Physiol 1995 Jun;268(6 Pt 1):C1520-7.

McDonald RA, Matthews RP, Idzerda RL, McKnight GS. Basal expression of the cystic fibrosis transmembrane conductance regulator gene is dependent on protein kinase A activity. Proc Natl Acad Sci U S A 1995 Aug 1;92(16):7560-4.

McDonald TV, Nghiem PT, Gardner P, Martens CL. Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current. J Biol Chem 1992 Feb 15;267(5):3242-8.

Millan KM, Saraullo A, Mikkelsen SR. Voltammetric DNA biosensor for cystic fibrosis based on a modified carbon paste electrode. Anal Chem 1994 Sep 15;66(18):2943-8.

Morris AP, Cunningham SA, Benos DJ, Frizzell RA. Cellular differentiation is required for cAMP but not Ca(2+)-dependent Cl- secretion in colonic epithelial cells expressing high levels of cystic fibrosis transmembrane conductance regulator. J Biol Chem 1992 Mar 15;267(8):5575-83.

Mutation analysis in cystic fibrosis [letter]. N Engl J Med 1990 Jul 5;323(1):62-3. Comment on: N Engl J Med 1990 Feb 1;322(5):291-6.

Nakamura H, Yoshimura K, Bajocchi G, Trapnell BC, Pavirani A, Crystal RG. Tumor necrosis factor modulation of expression of the cystic fibrosis transmembrane conductance regulator gene. FEBS Lett 1992 Dec 21;314(3):366-70.

O'Rawe A, Dodge JA, Redmond AO, McIntosh J, Brock DJ. Gene/energy interaction in cystic fibrosis [letter]. Lancet 1990 Mar 3;335(8688):552-3.

Pereira MM, Dormer RL, McPherson MA. Mucin secretion mediated by the cystic fibrosis gene protein, CFTR. Biochem Soc Trans 1995 Nov;23(4):532S.

Picci L, Brentagni L, Mastella G, Scarso E, Pizzochero P, Mattiazzo P, Chiandetti L, Anglani F, Zacchello F. 2D-electrophoresis of mitochondrial proteins from cystic fibrosis patients. Adv Exp Med Biol 1991;290:379-81.

Puchelle E, Gaillard D, Ploton D, Hinnrasky J, Fuchey C, Boutterin MC, Jacquot J, Dreyer D, Pavirani A, Dalemans W. Differential localization of the cystic fibrosis transmembrane conductance regulator in normal and cystic fibrosis airway epithelium. Am J Respir Cell Mol Biol 1992 Nov;7(5):485-91.

Regelmann WE, Skubitz KM, Herron JM. Increased monocyte oxidase activity in cystic fibrosis heterozygotes and homozygotes. Am J Respir Cell Mol Biol 1991 Jul;5(1):27-33.

Rich DP, Anderson MP, Gregory RJ, Cheng SH, Paul S, Jefferson DM, McCann JD, Klinger KW, Smith AE, Welsh MJ. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epit helial cells. Nature 1990 Sep 27;347(6291):358-63. Comment in: Nature 1990 Sep 20;347(6290):226.

Rickers A, Rininsland F, Osborne L, Reiss J. Skipping of multiple CFTR exons is not a result of single exon omissions. Hum Genet 1994 Sep;94(3):311-3.

Ringe D, Petsko GA. Cystic fibrosis. A transport problem? [news]. Nature 1990 Jul 26;346(6282):312-3. Comments on: Nature 1990 Jul 26;346(6282):362-5; Nature 1990 Jul 26;346(6282):366-9.

Riordan JR, Alon N, Grzelczak Z, Dubel S, Sun SZ. The CF gene product as a member of a membrane transporter (TM6-NBF) super family. Adv Exp Med Biol 1991;290:19-29.

Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989 Sep 8;245(4922):1066-73. Publis hed erratum appears in Science 1989 Sep 29;245(4925):1437.

Schwiebert EM, Kizer N, Gruenert DC, Stanton BA. GTP-binding proteins inhibit cAMP activation of chloride channels in cystic fibrosis airway epithelial cells. Proc Natl Acad Sci U S A 1992 Nov 15;89(22):10623-7.

Selig S, Okumura K, Ward DC, Cedar H. Delineation of DNA replication time zones by fluorescence in situ hybridization. EMBO J 1992 Mar;11(3):1217-25.

Sferra TJ, Collins FS. The molecular biology of cystic fibrosis. Annu Rev Med 1993;44:133-44.

Shankar V, Gilmore MS, Elkins RC, Sachdev GP. A novel human airway mucin cDNA encodes a protein with unique tandem-repeat organization. Biochem J 1994 Jun 1;300(Pt 2):295-8.

Sheppard DN, Ostedgaard LS, Rich DP, Welsh MJ. The amino-terminal portion of CFTR forms a regulated Cl- channel. Cell 1994 Mar 25;76(6):1091-8.

Shyamala V, Baichwal V, Beall E, Ames GF. Structure-function analysis of the histidine permease and comparison with cystic fibrosis mutations. J Biol Chem 1991 Oct 5;266(28):18714-9.

Sinaasappel M, Veeze HJ, De Jonge HR. New insights into the pathogenesis of cystic fibrosis. Scand J Gastroenterol Suppl 1990;178:17-25.

Slotki IN, Breuer WV, Greger R, Cabantchik ZI. Long-term cAMP activation of Na(+)-K(+)-2Cl- cotransporter activity in HT-29 human adenocarcinoma cells. Am J Physiol 1993 Apr;264(4 Pt 1):C857-65.

Sorscher EJ, Kirk KL, Weaver ML, Jilling T, Blalock JE, LeBoeuf RD. Antisense oligodeoxynucleotide to the cystic fibrosis gene inhibits anion transport in normal cultured sweat duct cells. Proc Natl Acad Sci U S A 1991 Sep 1;88(17):7759-62.

Stern M, Geddes D. Cystic fibrosis: basic chemical and cellular mechanisms. Br J Hosp Med 1996 Mar 6-19;55(5):237-40.

Strong TV, Boehm K, Collins FS. Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization. J Clin Invest 1994 Jan;93(1):347-54.

Teem JL, Berger HA, Ostedgaard LS, Rich DP, Tsui LC, Welsh MJ. Identification of revertants for the cystic fibrosis delta F508 mutation using STE6-CFTR chimeras in yeast. Cell 1993 Apr 23;73(2):335-46.

Teem JL, Carson MR, Welsh MJ. Mutation of R555 in CFTR-delta F508 enhances function and partially corrects defective processing. Receptors Channels 1996;4(1):63-72.

Thomas PJ, Ko YH, Pedersen PL. Altered protein folding may be the molecular basis of most cases of cystic fibrosis. FEBS Lett 1992 Nov 2;312(1):7-9.

Thomas PJ, Shenbagamurthi P, Sondek J, Hullihen JM, Pedersen PL. The cystic fibrosis transmembrane conductance regulator. Effects of the most common cystic fibrosis-causing mutation on the secondary structure and stability of a synthetic peptide. J Bio l Chem 1992 Mar 25;267(9):5727-30.

Thomas PJ, Shenbagamurthi P, Ysern X, Pedersen PL. Cystic fibrosis transmembrane conductance regulator: nucleotide binding to a synthetic peptide. Science 1991 Feb 1;251(4993):555-7.

Tizzano EF, Chitayat D, Buchwald M. Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues. Hum Mol Genet 1993 Mar;2(3):219-24.

Towards the biochemical defect in cystic fibrosis [editorial]. Lancet 1989 Dec 16;2(8677):1433.

Trapnell BC, Chu CS, Paakko PK, Banks TC, Yoshimura K, Ferrans VJ, Chernick MS, Crystal RG. Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. Proc Natl Acad Sci U S A 1991 Aug 1;88(15):6565-9.

Trapnell BC, Zeitlin PL, Chu CS, Yoshimura K, Nakamura H, Guggino WB, Bargon J, Banks TC, Dalemans W, Pavirani A, et al. Down-regulation of cystic fibrosis gene mRNA transcript levels and induction of the cystic fibrosis chloride secretory phenotype in epithelial cells by phorbol ester. J Biol Chem 1991 Jun 5;266(16):10319-23.

Tsui LC. The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med 1995 Mar;151(3 Pt 2):S47-53.

Tsui LC. Molecular genetics of cystic fibrosis. Pathol Biol (Paris) 1991 Jun;39(6):571-5.

Tsui LC. Probing the basic defect in cystic fibrosis. Curr Opin Genet Dev 1991 Jun;1(1):4-10.

Tsui LC, Buchwald M. Biochemical and molecular genetics of cystic fibrosis. Adv Hum Genet 1991;20:153-266, 311-2.

Ulane MM, Butler JD, Peri A, Miele L, Ulane RE, Hubbard VS. Cystic fibrosis and phosphatidylcholine biosynthesis. Clin Chim Acta 1994 Oct 31;230(2):109-16.

Veeze HJ, Sinaasappel M, Bijman J, Bouquet J, de Jonge HR. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology 1991 Aug;101(2):398-403.

Wagner JA, McDonald TV, Nghiem PT, Lowe AW, Schulman H, Gruenert DC, Stryer L, Gardner P. Antisense oligodeoxynucleotides to the cystic fibrosis transmembrane conductance regulator inhibit cAMP-activated but not calcium-activated chloride currents. Pro c Natl Acad Sci U S A 1992 Aug 1;89(15):6785-9.

Wang YH, Barker P, Griffith J. Visualization of diagnostic heteroduplex DNAs from cystic fibrosis deletion heterozygotes provides an estimate of the kinking of DNA by bulged bases. J Biol Chem 1992 Mar 5;267(7):4911-5.

Ward CL, Kopito RR. Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins. J Biol Chem 1994 Oct 14;269(41):25710-8.

Ward CL, Krouse ME, Gruenert DC, Kopito RR, Wine JJ. Cystic fibrosis gene expression is not correlated with rectifying Cl- channels. Proc Natl Acad Sci U S A 1991 Jun 15;88(12):5277-81.

Ward CL, Omura S, Kopito RR. Degradation of CFTR by the ubiquitin-proteasome pathway. Cell 1995 Oct 6;83(1):121-7.

Wardle CJ, Harris A. Down-regulation of CFTR expression in an HT29-derived cell line by stable antisense RNA production. Biochim Biophys Acta 1995 Apr 26;1261(3):417-23.

Wei X, Eisman R, Xu J, Harsch AD, Mulberg AE, Bevins CL, Glick MC, Scanlin TF. Turnover of the cystic fibrosis transmembrane conductance regulator (CFTR): slow degradation of wild-type and delta F508 CFTR in surface membrane preparations of immortalize d airway epithelial cells. J Cell Physiol 1996 Aug;168(2):373-84.

Welsh MJ, Denning GM, Ostedgaard LS, Anderson MP. Dysfunction of CFTR bearing the delta F508 mutation. J Cell Sci Suppl 1993;17:235-9.

Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Tummler B, Schmidtke J. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Hum Mutat 1995;5(3):210-20.

Will K, Reiss J, Dean M, Schlosser M, Slomski R, Schmidtke J, Stuhrmann M. CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. J Med Genet 1993 Oct;30(10):833-7.< /P>

Will K, Stuhrmann M, Dean M, Schmidtke J. Alternative splicing in the first nucleotide binding fold of CFTR. Hum Mol Genet 1993 Mar;2(3):231-5.

Williams JC Jr. Cystic fibrosis: a disease caused by a single defect in salt-transporting epithelial cells. J S C Med Assoc 1992 Jul;88(7):331-8.

Wine JJ. Cystic fibrosis. The mutant protein responds [news]. Nature 1991 Dec 19-26;354(6354):503-4. Comment on: Nature 1991 Dec 19-26;354(6354):526-8. Comment in: Nature 1992 Mar 12;356(6365):113.

Wood LC, Neufeld EF. A cystic fibrosis phenotype in cells cultured from sweat gland secretory coil. Altered kinetics of 36Cl efflux. J Biol Chem 1990 Aug 5;265(22):12796-800.

Yoshimura K, Chu CS, Crystal RG. Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus. J Biol Chem 1993 Jan 5 ;268(1):686-90.

Yoshimura K, Nakamura H, Trapnell BC, Chu CS, Dalemans W, Pavirani A, Lecocq JP, Crystal RG. Expression of the cystic fibrosis transmembrane conductance regulator gene in cells of non-epithelial origin. Nucleic Acids Res 1991 Oct 11;19(19):5417-23.

Zeitlin PL, Lu L, Rhim J, Cutting G, Stetten G, Kieffer KA, Craig R, Guggino WB. A cystic fibrosis bronchial epithelial cell line: immortalization by adeno-12-SV40 infection. Am J Respir Cell Mol Biol 1991 Apr;4(4):313-9.

Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991 May;10(1):214-28.

GENOTYPE/PHENOTYPE CORRELATIONS IN CYSTIC FIBROSIS PATIENTS

al-Jader LN, Meredith AL, Ryley HC, Cheadle JP, Maguire S, Owen G, Goodchild MC, Harper PS. Severity of chest disease in cystic fibrosis patients in relation to their genotypes. J Med Genet 1992 Dec;29(12):883-7. Comment in: J Med Genet 1993 Aug;30(8) :709.

Alton EW. A mild variant of cystic fibrosis. Thorax 1996 Aug;51 Suppl 2:S51-4.

Amos JA, Janes SR, Erbe RW. DNA analysis of cystic fibrosis genotypes in relatives with equivocal sweat test results. Clin Invest Med 1990 Feb;13(1):1-5.

Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 1992 Apr 1;267(13):1794-7.

Augarten A, Hacham S, Kerem E, Sheva Kerem B, Szeinberg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, et al. The significance of sweat Cl/Na ratio in patients with borderline sweat test. Pediatr Pulmonol 1995 Dec;20(6):369-71.

Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Kerem E, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation. Lancet 1993 Jul 3;342(8862):25-6.

Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 1994 Nov 26;344(8935):1473-4. Comments in: Lancet 1995 Jan 21;3 45(8943):200; Lancet 1995 Jan 21;345(8943):200-1.

Barreto C, Pinto LM, Duarte A, Lavinha J, Ramsay M. A fertile male with cystic fibrosis: molecular genetic analysis. J Med Genet 1991 Jun;28(6):420-1.

Bedford CD. Genotype and severity of cystic fibrosis [letter]. Lancet 1991 Sep 21;338(8769):759. Comment on: Lancet 1991 Aug 17;338(8764):457-8.

Bianchetti MG, Mauri S. Hypotonic dehydration in cystic fibrosis: mild or severe disease phenotype? [letter]. J Pediatr 1996 May;128(5 Pt 1):723.

Bienvenu T, Beldjord C, Adjiman M, Kaplan JC. Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H [letter]. J Med Genet 1993 Sep;30(9):797.

Bienvenu T, Beldjord C, Chelly J, Fonknechten N, Hubert D, Dusser D, Kaplan JC. Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis pa tients. Eur J Hum Genet 1996;4(3):127-34.

Bienvenu T, Beldjord C, Fonknechten N, Kaplan JC, Lenoir G. Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene [letter]. J Med Genet 1993 Jul;30(7):621-2.

Bienvenu T, Beldjord C, Kaplan JC, Hubert D, Dusser D. Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote [letter]. J Med Genet 1995 Nov;32(11):919. Comment on: J Med Genet 1995 May;32(5):406-7.

Bienvenu T, Cazeneuve C, Beldjord C, Dusser D, Kaplan JC, Hubert D. A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient. Hum Mol Genet 1994 Feb;3(2):365-6.

Bonduelle M, Lissens W, Liebaers I, Malfroot A, Dab I. Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene [letter]. Lancet 1991 Jul 20;338(8760):189.

Borgo G, Cabrini G, Mastella G, Ronchetto P, Devoto M, Romeo G. Phenotypic intrafamilial heterogeneity in cystic fibrosis [letter]. Clin Genet 1993 Jul;44(1):48-9. Comment in: Clin Genet 1995 Feb;47(2):110-1.

Borgo G, Gasparini P, Bonizzato A, Cabrini G, Mastella G, Pignatti PF. Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study. Eur J Pediatr 1993 Dec;152(12):1006-11.

Borgo G, Mastella G, Gasparini P, Zorzanello A, Doro R, Pignatti PF. Pancreatic function and gene deletion F508 in cystic fibrosis. J Med Genet 1990 Nov;27(11):665-9.

Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M. Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of t hree novel mutations. Hum Genet 1995 Sep;96(3):312-8.

Burke W, Aitken ML, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992 Aug;102(2):506-9.

Campbell PW 3d, Phillips JA 3d. The cystic fibrosis gene and relationships to clinical status. Semin Respir Infect 1992 Sep;7(3):150-7.

Campbell PW 3d, Phillips JA 3d, Krishnamani MR, Maness KJ, Hazinski TA. Cystic fibrosis: relationship between clinical status and F508 deletion. J Pediatr 1991 Feb;118(2):239-41.

Castaldo G, Rippa E, Raia V, Salvatore D, Massa C, de Ritis G, Salvatore F. Clinical features of cystic fibrosis patients with rare genotypes. J Med Genet 1996 Jan;33(1):73-6.

Chalkley G, Harris A. A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease. J Med Genet 1991 Dec;28(12):875-7.

Cheadle J, al-Jader L, Goodchild M, Meredith AL. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J Med Genet 1992 Aug;29(8):597.

Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995 Jun 1;332(22):1475 -80.

Colin AA, Sawyer SM, Mickle JE, Oates RD, Milunsky A, Amos JA. Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest 1996 Aug;110(2):440-5.

Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium. N Engl J Med 1993 Oct 28;329(18):1308-13. Comments in: N Engl J Med 1994 Mar 24;330(12):865-6; discussion 866-7; N Engl J M ed 1994 Mar 24;330(12):866.

Culard JF, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Gene t 1994 Apr;93(4):467-70.

Cuppens H, Marynen P, De Boeck C, De Baets F, Eggermont E, Van den Berghe H, Cassiman JJ. A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. J Med Genet 1990 Nov;27(11):717-9. Comment i n: J Med Genet 1991 Nov;28(11):807.

Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS. Association of less common cystic fibrosis mutations with a mild phenotype. J Med Genet 1991 Jan;28(1):34-7.

Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH Jr, Antonarakis SE. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med 1990 Dec 13;323(24):1685-9.

De Arce M, O'Brien S, Hegarty J, O'Mahoney SM, Cashman SM, Martinez A, Delgado M, FitzGerald MX. Deletion delta F508 and clinical expression of cystic fibrosis-related liver disease. Clin Genet 1992 Nov;42(5):271-2.

De Braekeleer M, Daigneault J, Aubin G, Simard F, Allard C, Fujiwara MT, Morgan K. Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations [letter]. Clin Genet 1995 Feb;47(2):110-1. Comment on: Clin Genet 1993 Jul;44(1):48-9.

Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994 Apr;93(4):364-8.

Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990 Jun 1;61(5):863-70.

Deltas CC, Boteva K, Georgiou A, Papageorgiou E, Georgiou C. Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual. Mol Cell Probes 1996 Aug;10(4):315-8.

Desgeorges M, Kjellberg P, Demaille J, Claustres M. A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene [letter]. Am J Hum Genet 1994 Feb;54(2):384-5. Comment on: Am J Hum Ge net 1993 Jul;53(1):292-3.

Desgeorges M, Laussel M, Rollin B, Demaille J, Claustres M. Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X [letter]. J Med Genet 1994 Jan;31(1):84-5.

Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M. Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. Hum Genet 1995 Dec;96(6):717-20.

Dork T, Stuhrmann M. Severity of disease in cystic fibrosis [letter]. Lancet 1995 Oct 14;346(8981):1036-7. Comment on: Lancet 1995 Jul 29;346(8970):274-6.

Dork T, Wulbrand U, Steinkamp G, Tummler B. Mild course of cystic fibrosis associated with heterozygosity for infrequent mutations in the first nucleotide-binding fold of CFTR. Acta Paediatr 1992 Jan;81(1):82-3.

Dreyfus DH, Bethel R, Gelfand EW. Cystic fibrosis 3849+10kb C > T mutation associated with severe pulmonary disease and male fertility. Am J Respir Crit Care Med 1996 Feb;153(2):858-60.

Duarte A, Amaral M, Barreto C, Pacheco P, Lavinha J. Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. Hum Mutat 1996;8(2):134-9.

Dumur V, Gervais R, Rigot JM, Delomel-Vinner E, Lafitte JJ, Roussel P. Congenital bilateral absence of vas deferens in absence of cystic fibrosis [letter]. Lancet 1995 Jan 21;345(8943):200-1. Comment on: Lancet 1994 Nov 26;344(8935):1473-4.

Dumur V, Lafitte JJ, Gervais R, Debaecker D, Kesteloot M, Lalau G, Roussel P. Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion [letter]. Lancet 1990 Jun 2;335(8701):1340. Comments in: Lancet 19 91 Jan 5;337(8732):55; Lancet 1991 Jan 26;337(8735):234.

Durie PR. Pathophysiology of the pancreas in cystic fibrosis. Neth J Med 1992 Oct;41(3-4):97-100.

Durieu I, Bey-Omar F, Rollet J, Calemard L, Boggio D, Lejeune H, Gilly R, Morel Y, Durand DV. Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. Medicine (Baltimore) 1995 Jan;74(1):42-7.

Duthie A, Doherty DG, Williams C, Scott-Jupp R, Warner JO, Tanner MS, Williamson R, Mowat AP. Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease. Hepatolo gy 1992 Apr;15(4):660-4.

Entzian P, Muller E, Boysen A, Artlich A, Schwinger E, Schlaak M. Frequency of common cystic fibrosis gene mutations in chronic bronchitis patients. Scand J Clin Lab Invest 1995 May;55(3):263-6.

Estivill X, Ortigosa L, Perez-Frias J, Dapena J, Ferrer J, Pena L, Pena L, Llevadot R, Gimenez J, Nunes V, et al. Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variabl e age of onset and interfamilial clinical differences. Hum Genet 1995 Mar;95(3):331-6.

Farrell PM, Koscik RE. Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis. Pediatrics 1996 Apr;97(4):524-8.

Feldmann D, Rochemaure J, Plouvier E, Magnier C, Chauve C, Aymard P. Mild course of cystic fibrosis in an adult with the D1152H mutation [letter]. Clin Chem 1995 Nov;41(11):1675.

Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B. Genotype analysis of adult cystic fibrosis patients. Hum Mol Genet 1993 Oct;2(10):1557-60.

Ferrari M, Antonelli M, Bellini F, Borgo G, Castiglione O, Curcio L, Dallapiccola B, Devoto M, Estivill X, Gasparini P, et al. Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study. Hu m Genet 1990 Apr;84(5):435-8.

Ferrari M, Cremonesi L. Genotype-phenotype correlation in cystic fibrosis patients. Ann Biol Clin (Paris) 1996;54(6):235-41.

Fried MD, Durie PR, Tsui LC, Corey M, Levison H, Pencharz PB. The cystic fibrosis gene and resting energy expenditure. J Pediatr 1991 Dec;119(6):913-6.

Gaitskhoki VS, Voronina OV, Potapova OYu, Kirjukhina LV, Gembitskaya TE, Kapranov NI, Petrova NV, Khafizova ZA, Schwartz EI. Linkage disequilibrium between cystic fibrosis mutations and polymorphic 4-bp repeat within CFTR gene. Biochem Med Metab Biol 1 993 Oct;50(2):186-9.

Gan KH, Geus WP, Bakker W, Lamers CB, Heijerman HG. Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years. Thorax 1995 Dec;50(12):1301-4.

Gan KH, Heijerman HG, Bakker W. Correlation between genotype and phenotype in patients with cystic fibrosis [letter]. N Engl J Med 1994 Mar 24;330(12):865-6; discussion 866-7. Comment on: N Engl J Med 1993 Oct 28;329(18):1308-13.

Gan KH, Veeze HJ, van den Ouweland AM, Halley DJ, Scheffer H, van der Hout A, Overbeek SE, de Jongste JC, Bakker W, Heijerman HG. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995 Jul 13;333(2):95-9.

Ganev V, Tzoneva M, Tzvetkov D. An approach to selection of atypical cystic fibrosis clinical phenotypes. Acta Univ Carol [Med] (Praha) 1990;36(1-4):247-9.

Gasparini P, Novelli G, Estivill X, Olivieri D, Savoia A, Ruzzo A, Nunes V, Borgo G, Antonelli M, Williamson R, et al. The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. J Med Genet 1990 Jan;27(1):17- 20.

Gasparini P, Pignatti PF, Borgo G, Mastella G. Sweat chloride concentration in cystic fibrosis patients varies with KM.19 genotype but not with the presence of the common F508 deletion [letter]. Am J Med Genet 1991 May 1;39(2):230-1.

Gervais R, Dumur V, Letombe B, Larde A, Rigot JM, Roussel P, Lafitte JJ. Hypofertility with thick cervical mucus: another mild form of cystic fibrosis? [letter]. JAMA 1996 Nov 27;276(20):1638.

Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens [letter]. N Engl J Med 1993 Feb 11;328(6):446-7.

Gilbert F, Li Z, Arzimanoglou II, Bialer M, Denning C, Gorvoy J, Honorof J, Ores C, Quittell L, Arzimanoglou I [corrected to Arzimanoglou II], et al. Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists. Am J Med Genet 1995 Sep 25;58(4):356-9. Published erratum appears in Am J Med Genet 1996 Aug 23;64(3):527.

Goshen R, Kerem E, Shoshani T, Kerem BS, Feigin E, Zamir O, Yahav Y. Cystic fibrosis manifested as undescended testis and absence of vas deferens. Pediatrics 1992 Dec;90(6):982-3.

Guy-Crotte O, Carrere J, Figarella C. Exocrine pancreatic function in cystic fibrosis. Eur J Gastroenterol Hepatol 1996 Aug;8(8):755-9.

Halley DJ, Veeze HJ, Sandkuyl LA, Wesby-van Swaay E, van Damme NH, Deelen WH, Witte JE, Niermeijer MF. The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis. Hum Genet 1990 Sep;85(4):407-8.

Hamdi I, Payne SJ, Barton DE, McMahon R, Green M, Shneerson JM, Hales CN. Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus. Clin Genet 1993 Apr;43(4):186-9.

Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, et al. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indisti nguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. Am J Hum Genet 1992 Aug;51(2):245-50.

Hirsh A, Williams C, Williamson B. Young's syndrome and cystic fibrosis mutation delta F508 [letter]. Lancet 1993 Jul 10;342(8863):118.

Jarvi K, Zielenski J, Wilschanski M, Durie P, Buckspan M, Tullis E, Markiewicz D, Tsui LC. Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia [letter]. Lancet 1995 Jun 17;345(8964):1578.

Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M. Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin Chem 1995 Jun;41(6 Pt 1):833-5.

Kanavakis E, Tzetis M, Antoniadi T, Trager-Synodinos J, Kattamis C, Doudounakis S, Adam G. Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation [letter]. J Med Genet 1995 May;32(5):406-7. Comment in: J Med Genet 1995 Nov;32(11):91 9.

Kaplan DM, Niv A, Aviram M, Parvari R, Leiberman A, Fliss DM. The 3849 + 10 kB C-->T mutation in a 21-year-old patient with cystic fibrosis. Ear Nose Throat J 1996 Dec;75(12):793-5.

Kaplan TA, Moccia-Loos G, Rabin M, McKey RM Jr. Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis. Clin J Sport Med 1996 Oct;6(4):226-31.P>

Kerem B, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet 1996;4(2):65-73.

Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, Tsui LC, Durie P. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med 1990 Nov 29;323(22):1517-22.

Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993 Nov;5(3):274-8.

Kingdom TT, Lee KC, FitzSimmons SC, Cropp GJ. Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery. Arch Otolaryngol Head Neck Surg 1996 Nov;122(11):1209-13.

Kosztolanyi G, Malik N, Rutishauser M. Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes? Clin Genet 1996 Feb;49(2):103-5.

Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992 Jun;50(6):1178-84.

Kumar A, Riely CA. Inherited liver diseases in adults. West J Med 1995 Oct;163(4):382-6.

Kupchik G. Genotype/phenotype discrepancies in cystic fibrosis [letter]. Lancet 1991 Jan 12;337(8733):121. Comment on: Lancet 1990 Nov 3;336(8723):1081-4. Comment in: Lancet 1991 Mar 9;337(8741):623.

Lanng S, Schwartz M, Thorsteinsson B, Koch C. Endocrine and exocrine pancreatic function and the delta F508 mutation in cystic fibrosis. Clin Genet 1991 Nov;40(5):345-8.

Leoni GB, Pitzalis S, Podda R, Zanda M, Silvetti M, Caocci L, Cao A, Rosatelli MC. A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. J Pediatr 1995 Aug;127(2):281-3. Comment in: J Pediatr 1996 May;128(5 Pt 1):721-2.

Lester LA, Kraut J, Lloyd-Still J, Karrison T, Mott C, Billstrand C, Lemke A, Ober C. Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population. Pediatrics 1994 Jan;93(1):114-8.

Levy RD, Leith W, Miller SD, Rosenblatt DS, Rozen R. Molecular analysis of a woman with late onset cystic fibrosis [letter]. Clin Invest Med 1990 Dec;13(6):370.

Liechti-Gallati S, Bonsall I, Malik N, Schneider V, Kraemer LG, Ruedeberg A, Moser H, Kraemer R. Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations. Pediatr Res 1992 Aug;32(2):175-8.

Lissens W, Desmyttere S, Bonduelle M, Dab I, Liebaers I, Mercier B, Audrezet MP, Ferec C. Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR [letter]. J Med Genet 1993 May;30(5):446.

Mastella G. Relationships between gene mutations and clinical features in cystic fibrosis. Pediatr Pulmonol Suppl 1995;11:63-5.

Mennie M, Gilfillan A, Brock DJ, Liston WA. Heterozygotes for the delta F508 cystic fibrosis allele are not protected against bronchial asthma [letter]. Nat Med 1995 Oct;1(10):978-9.

Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995 Jan;56(1):272-7 .

Meschede D, Eigel A, Horst J, Nieschlag E. Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens [letter]. Am J Hum G enet 1993 Jul;53(1):292-3. Comment on: Am J Hum Genet 1992 Nov;51(5):1173-4. Comment in: Am J Hum Genet 1994 Feb;54(2):384-5.

Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 1995 Jul;10(7):1728 -35.

Miller PW, Hamosh A, Macek M Jr, Greenberger PA, MacLean J, Walden SM, Slavin RG, Cutting GR. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet 1996 Jul;59(1):45-51.

Mohon RT, Wagener JS, Abman SH, Seltzer WK, Accurso FJ. Relationship of genotype to early pulmonary function in infants with cystic fibrosis identified through neonatal screening. J Pediatr 1993 Apr;122(4):550-5.

Moullier P, Jehanne M, Audrezet MP, Mercier B, Verlingue C, Quere I, Guillermit H, Raguenes O, Storni V, Rault G, et al. Association of 1078 del T cystic fibrosis mutation with severe disease. J Med Genet 1994 Feb;31(2):159-61.

Nunes V, Casals T, Gaona A, Antinolo G, Ferrer-Calvete J, Perez-Frias J, Tardio E, Molano J, Estivill X. Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes. Hum Mutat 1992;1(5):375-9.

O'Rawe A, McIntosh I, Dodge JA, Brock DJ, Redmond AO, Ward R, Macpherson AJ. Increased energy expenditure in cystic fibrosis is associated with specific mutations. Clin Sci (Colch) 1992 Jan;82(1):71-6.

Oates RD, Amos JA. Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality. World J Urol 1993;11(2):82-8.

Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 1994 Jan-Feb;15(1):1-8.

Orozco L, Lezana JL, Villarreal MT, Chavez M, Carnevale A. Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings. Clin Genet 1995 Feb;47(2):96-8.

Osborne LR, Lynch M, Middleton PG, Alton EW, Geddes DM, Pryor JP, Hodson ME, Santis GK. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum Mol Genet 1993 Oct;2(10):1605-9. Pub lished erratum appears in Hum Mol Genet 1993 Nov;2(11):1990.

Packe GE, Miedzybrodzka ZH, Dean JC. Severity of chest disease in CF patients in relation to their genotypes [letter]. J Med Genet 1993 Aug;30(8):709. Comment on: J Med Genet 1992 Dec;29(12):883-7.

Padoan R, Seia M, Cremonesi L, Giunta A. Mild CF phenotype associated with T3381 missense mutation [letter]. J Pediatr 1996 May;128(5 Pt 1):721-2. Comment on: J Pediatr 1995 Aug;127(2):281-3.

Parad RB. Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D. J Med Genet 1996 Aug;33(8):711-3.

Patrizio P, Asch RH, Handelin B, Silber SJ. Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum Reprod 1993 Feb;8(2):215-20.

Patrizio P, Ord T, Silber SJ, Asch RH. Cystic fibrosis mutations impair the fertilization rate of epididymal sperm from men with congenital absence of the vas deferens. Hum Reprod 1993 Aug;8(8):1259-63.

Patrizio P, Zielenski J. Congenital absence of the vas deferens: a mild form of cystic fibrosis. Mol Med Today 1996 Jan;2(1):24-31.

Pignatti PF. Cystic fibrosis gene mutations, and correlation with clinical manifestations. Pathol Biol (Paris) 1991 Jun;39(6):582-4.

Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 1995 Apr;4(4):635-9.

Poller W, Faber JP, Scholz S, Olek K, Muller KM. Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course. Klin Wochenschr 1991 Sep 16;69(14):657-63.

Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba O, Kalman YM, Brautbar C, Levinson D, et al. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hu m Genet 1995 Jun;56(6):1359-66.

Rigot JM, Lafitte JJ, Dumur V, Gervais R, Manouvrier S, Biserte J, Mazeman E, Roussel P. Cystic fibrosis and congenital absence of the vas deferens [letter]. N Engl J Med 1991 Jul 4;325(1):64-5.

Robinson AJ, Richardson GA. Severity of cystic fibrosis [letter]. Lancet 1991 Aug 17;338(8764):457-8. Comment on: Lancet 1991 Mar 16;337(8742):631-4. Comment in: Lancet 1991 Sep 21;338(8769):759.

Rolfini R, Cabrini G. Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue. J Clin Invest 1993 Dec;92(6):2683-7.

Rosenstein BJ. Genotype-phenotype correlations in cystic fibrosis. Lancet 1994 Mar 26;343(8900):746-7.

Rozen R, Ferreira-Rajabi L, Robb L, Colman N. L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. Am J Med Genet 1995 Jul 3;57(3):437-9.

Rusakow LS, Guarin M. A cystic fibrosis mutation associated with mild lung disease [letter]. N Engl J Med 1995 Dec 14;333(24):1644.

Santamaria F, Salvatore D, Castiglione O, Raia V, de Ritis G, Sebastio G. Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis. Hum Genet 1992 Mar;88(6):639-41.

Santis G, Osborne L, Knight R, Hodson ME, Ramsay M. Genetic influences on pulmonary severity in cystic fibrosis [letter]. Lancet 1990 Feb 3;335(8684):294.

Santis G, Osborne L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 1990 Nov 3;336(8723):1081-4. Comments in: Lancet 1991 Jan 5;337(8732):54-5; Lancet 1991 Jan 12;337(8733):121; Lan cet 1991 Mar 9;337(8741):623.

Santis G, Osborne L, Knight RA, Hodson ME. Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis. Lancet 1990 Jun 16;335(8703):1426-9.

Sheppard DN, Ostedgaard LS. Understanding how cystic fibrosis mutations cause a loss of Cl- channel function. Mol Med Today 1996 Jul;2(7):290-7.

Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ. Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. Nature 1993 Mar 11;362(6416):160-4. Comment in: Nature 1993 Mar 11;362(6416):106.

Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, Rivlin J, Tal A, Kerem B. Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells. J Clin Invest 1994 Apr;93(4):1502-7.

Simon-Bouy B, Mornet E, Taillandier A, Serre JL, Boue J, Boue A. The delta F508 mutation in mild adult forms of cystic fibrosis (CF). Clin Genet 1991 Apr;39(4):304-5.

Slomski R, Schloesser M, Berg LP, Wagner M, Kakkar VV, Cooper DN, Reiss J. Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum Genet 1992 Aug;89(6):615-9.

Smith DL, Stableforth DE, Cushley M. Chronic bronchial secretion in delta F508 heterozygote for cystic fibrosis [letter]. Lancet 1991 Jan 26;337(8735):234. Comment on: Lancet 1990 Jun 2;335(8701):1340.

Stern RC. The diagnosis of cystic fibrosis. N Engl J Med 1997 Feb 13;336(7):487-91.

Stern RC, Doershuk CF, Drumm ML. 3849+10 kb C-->T mutation and disease severity in cystic fibrosis. Lancet 1995 Jul 29;346(8970):274-6. Comment in: Lancet 1995 Oct 14;346(8981):1036-7.

Stewart B, Zabner J, Shuber AP, Welsh MJ, McCray PB Jr. Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med 1995 Mar;151(3 Pt 1):899-903. Comment in: Am J Respir Crit Care Med 1995 Nov;152(5 Pt 1):17 36-7.

Strong TV, Smit LS, Turpin SV, Cole JL, Hon CT, Markiewicz D, Petty TL, Craig MW, Rosenow EC 3d, Tsui LC, et al. Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. N Engl J Med 1991 Dec 5;325(23):1630-4.

Stuhrmann M, Dork T, Krawczak M, Dueck M, Banholzer U, Domagk J, Hoffknecht N, Posselt HG, Reis A, Schlosser M, et al. Genotype-phenotype correlations in cystic fibrosis patients. Adv Exp Med Biol 1991;290:97-101; discussion 102-3.

Summers KM. Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases. Hum Mutat 1996;7(4):283-93.

Taylor CJ, Hughes H, Hardcastle PT, Hardcastle J. Genotype and secretory response in cystic fibrosis [letter]. Lancet 1992 Jan 4;339(8784):67-8.

Thomson MA, Wilmott RW, Wainwright C, Masters B, Francis PJ, Shepherd RW. Resting energy expenditure, pulmonary inflammation, and genotype in the early course of cystic fibrosis. J Pediatr 1996 Sep;129(3):367-73.

Tizzano EF, Buchwald M. CFTR expression and organ damage in cystic fibrosis. Ann Intern Med 1995 Aug 15;123(4):305-8.

Tomezsko JL, Stallings VA, Kawchak DA, Goin JE, Diamond G, Scanlin TF. Energy expenditure and genotype of children with cystic fibrosis. Pediatr Res 1994 Apr;35(4 Pt 1):451-60.

Tummler B, Aschendorff A, Darnedde T, Fryburg K, Maass G, Hundrieser J. Marker haplotype association with growth in German cystic fibrosis patients. Hum Genet 1990 Feb;84(3):267-73.

Tummler B, Dork T, Kubesch P, Fislage R, Kalin N, Neumann T, Wulbrand U, Wulf B, Steinkamp G, von der Hardt H. Cystic fibrosis: the impact of analytical technology for genotype-phenotype studies. Clin Chim Acta 1993 Jul 30;217(1):23-8.

van der Ven K, Messer L, van der Ven H, Jeyendran RS, Ober C. Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Hum Reprod 1996 Mar;11(3):513-7.

Varon R, Stuhrmann M, Macek M Jr, Kufardjieva A, Angelicheva D, Magdorf K, Jordanova A, Savov A, Wahn U, Macek M, et al. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Hum Mutat 199 5;6(3):219-25.

Vazquez C, Antinolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficie ncy mutation with variable clinical presentation. J Med Genet 1996 Oct;33(10):820-2.

Vazquez-Levin MH, Kupchik GS, Torres Y, Chaparro CA, Shtainer A, Bonforte RJ, Nagler HM. Cystic fibrosis and congenital agenesis of the vas deferens, antisperm antibodies and CF-genotype. J Reprod Immunol 1994 Dec;27(3):199-212.

Veeze HJ. Cystic fibrosis: genetics and intestinal secretion. Neth J Med 1992 Oct;41(3-4):115-8.

Veeze HJ, Halley DJ, Bijman J, de Jongste JC, de Jonge HR, Sinaasappel M. Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype. J Clin Invest 1994 Feb;93 (2):461-6.

Verlingue C, David A, Audrezet MP, Le Roux MG, Mercier B, Moisan JP, Ferec C. Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis? Prenat Diagn 1993 Dec;13(12):1143-8.

Wagner M, Schloesser M, Reiss J. Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions. Mol Biol Med 1990 Aug;7(4):359-64.

Williams C, Mayall ES, Williamson R, Hirsh A, Cookson H. A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens [letter]. J Med Genet 1993 Nov;30(11):973.

Wine JJ. No CFTR: are CF symptoms milder? [letter]. Nat Genet 1992 Apr;1(1):10. Published erratum appears in Nat Genet 1992 Aug;1(5):320.

Witt M, Erickson RP, Ober C, Howatt WF, Farber R. Correlation of phenotypic and genetic heterogeneity in cystic fibrosis: variability in sweat electrolyte levels contributes to heterogeneity and is increased with the XV-2c/KM19 B haplotype. Am J Med Ge net 1991 May 1;39(2):137-43.

Zemel BS, Kawchak DA, Cnaan A, Zhao H, Scanlin TF, Stallings VA. Prospective evaluation of resting energy expenditure, nutritional status, pulmonary function, and genotype in children with cystic fibrosis. Pediatr Res 1996 Oct;40(4):578-86.

Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui LC. CFTR gene variant for patients with congenital absence of vas deferens [letter]. Am J Hum Genet 1995 Oct;57(4):958-60.

GENETIC SCREENING AND TESTING FOR CYSTIC FIBROSIS

GENETIC SCREENING AND TESTING FOR CYSTIC FIBROSIS - OVERVIEW

Anderson C. Genome project to tackle mass screening [news]. Nature 1990 Dec 13;348(6302):569.

Beech R, Rona RJ, Mandalia S. The resource implications and service outcomes of genetic services in the context of DNA technology. Health Policy 1994 Jan 15;26(3):171-90.

Brock DJ. Carrier screening in the community. J Inherit Metab Dis 1995;18(4):525-32.

Carey B. Chance of a lifetime. Health 1994 May-Jun;8(3):90-4, 96, 98.

Carlsson C, Jonsson M, Norden B, Dulay MT, Zare RN, Noolandi J, Nielsen PE, Tsui LC, Zielenski J. Screening for genetic mutations [letter]. Nature 1996 Mar 21;380(6571):207.

Cuckle H. Cystic fibrosis screening strategies. Br J Hosp Med 1993 Oct 6-19;50(7):398-402.

Denayer L, De Boeck K, Evers-Kiebooms G, Van den Berghe H. The transfer of information about genetic transmission to brothers and sisters of parents with a CF-child. Birth Defects 1992;28(1):149-58.

Denter M, Ramsay M, Jenkins T. Cystic fibrosis. Part II. New developments in cystic fibrosis--implications for carrier detection and genetic counselling. S Afr Med J 1992 Jul;82(1):11-3.

Evers-Kiebooms G, Denayer L, Van den Berghe H. A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis. Clin Genet 1990 Mar;37(3):207-15.

Feasibility study of community control programmes for cystic fibrosis: memorandum from a WHO/ICF(M)A meeting. Bull World Health Organ 1990;68(6):709-15.

Fernbach SD, Thomson EJ. Molecular genetic technology in cystic fibrosis: implications for nursing practice. J Pediatr Nurs 1992 Feb;7(1):20-5.

Fujimura FK. Cystic fibrosis gene analysis: recent diagnostic applications. Clin Biochem 1991 Aug;24(4):353-61.

Hames A, Beesley J, Nelson R. Cystic fibrosis: what do patients know, and what else would they like to know? Respir Med 1991 Sep;85(5):389-92.

Hulsebus DR, Williams J. Cystic fibrosis: a new perspective in genetic counseling. J Pediatr Health Care 1992 Nov-Dec;6(6):338-42.

Koch L, Stemerding D. The sociology of entrenchment: a cystic fibrosis test for everyone? Soc Sci Med 1994 Nov;39(9):1211-20.

Korf B. Molecular diagnosis (1). N Engl J Med 1995 May 4;332(18):1218-20.

McGourty C. Genetic testing: CF screening premature? [news]. Nature 1989 Nov 23;342(6248):334.

Meschede D, Horst J, Williams C, Williamson R. Genetic testing and counselling for congenital bilateral absence of the vas deferens [letter]. Lancet 1994 Jun 18;343(8912):1566-7.

Penchaszadeh VB. Reproductive health and genetic testing in the Third World. Clin Obstet Gynecol 1993 Sep;36(3):485-95.

Qureshi N, Raeburn JA. Clinical genetics meets primary care [editorial]. BMJ 1993 Oct 2;307(6908):816-7. Comment on: BMJ 1993 Oct 2;307(6908):849-52.

Roderick PJ, Chapple J. Screening for cystic fibrosis [letter]. Lancet 1989 Dec 9;2(8676):1403-4. Comment on: Lancet 1989 Oct 21;2(8669):973-4.

Rona RJ, Beech R, Mandalia S, Donnai D, Kingston H, Harris R, Wilson O, Axtell C, Swan AV, Kavanagh F. The influence of genetic counselling in the era of DNA testing on knowledge, reproductive intentions and psychological wellbeing. Clin Genet 1994 Aug ;46(2):198-204.

Scriver CR, Fujiwara TM. Cystic fibrosis genotypes and views on screening are both heterogeneous and population related [editorial]. Am J Hum Genet 1992 Nov;51(5):943-50. Comment on: Am J Hum Genet 1992 Nov;51(5):951-6.

Wald NJ. What is genetic screening anyway? [editorial]. J Med Screen 1996;3(2):57.

Walpole IR. Genetic screening and primary health care [editorial]. Med J Aust 1996 Apr 15;164(8):455-6.

Wilfond BS. Screening policy for cystic fibrosis. The role of evidence. Hastings Cent Rep 1995 May-Jun;25(3):S21-3.

CYSTIC FIBROSIS SCREENING POLICY STATEMENTS

American Society of Human Genetics. Statement on cystic fibrosis screening. Am J Hum Gen 1990 Feb;46(2):393.

Caskey CT, Kaback MM, Beaudet AL. The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet 1990 Feb;46(2):393. Comment in: Am J Hum Genet 1990 Sep;47(3):580-1.

Current status of cystic fibrosis carrier screening. ACOG committee opinion: committee on obstetrics: maternal and fetal medicine. Number 101--November 1991. Int J Gynaecol Obstet 1992 Oct;39(2):143-5.

Fradkin JE, Gorden P. Developing the clinical application of genetic diagnosis: the role of NIDDK [letter]. JAMA 1994 Apr 27;271(16):1240. Comment on: JAMA 1993 Dec 22-29;270(24):2948-54.

Nishimi RY. From the Congressional Office of Technology Assessment: cystic fibrosis and DNA tests -- the implications of carrier screening. JAMA 1993 Apr 21;269(15):1921.

Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene. N Engl J Med 1990 Jul 5;323(1):70-1.

Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. Am J Hum Genet 1992 Dec;51(6):1443-4.

U.S. National Institutes of Health. Recombinant DNA Advisory Committee. Recombinant DNA Advisory Committee: minutes of meeting, 12-13 Sep 1994. Hum Gene Ther 1995 Apr;6(4):481-525.

Wilfond BS, Nolan K. National policy development for the clinical application of genetic diagnostic technologies. Lessons from cystic fibrosis. JAMA 1993 Dec 22-29;270(24):2948-54. Comment in: JAMA 1994 Apr 27;271(16):1240.

GENETIC TESTING TECHNOLOGIES FOR CYSTIC FIBROSIS

Audrezet MP, Costes B, Ghanem N, Fanen P, Verlingue C, Morin JF, Mercier B, Goossens M, Ferec C. Screening for cystic fibrosis in dried blood spots of newborns. Mol Cell Probes 1993 Dec;7(6):497-502.

Avidor B, Zakut H, Kerem B. Simple, rapid nonradioactive method to detect major cystic fibrosis mutations in Ashkenazi Jews. Clin Chem 1996 Jan;42(1):103-5.

Axton RA, Brock DJ. A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. Hum Mutat 1995;5(3):260-2.

Axton RA, Brock DJ. Use of stable dye-DNA intercalating complexes to detect cystic fibrosis mutations. Mol Cell Probes 1994 Jun;8(3):245-50.

Bal J, Rininsland F, Osborne L, Reiss J. Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site. Mol Cell Probes 1992 Feb;6(1):9-11.

Ballabio A, Gibbs RA, Caskey CT. PCR test for cystic fibrosis deletion [letter]. Nature 1990 Jan 18;343(6255):220.

Balnaves ME, Nasioulas S, Dahl HH, Forrest S. Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions. Nucleic Acids Res 1991 Mar 11;19(5):1155. Published erratum appears in Nucleic Acids Res 199 1 May 11;19(9):2537.

Bisceglia L, Grifa A, Zelante L, Gasparini P. Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations. Hum Mutat 1994;4(2):136-40.

Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F. Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure. J Med Genet 1996 Jun;33(6):475-9.

Ch'ang LY, Tang K, Schell M, Ringelberg C, Matteson KJ, Allman SL, Chen CH. Detection of delta F508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1995;9(9):772-4.

Chalkley G, Harris A. Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene. J Med Genet 1991 Nov;28(11):777-80.

Chehab FF, Wall J. Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening. Hum Genet 1992 May;89(2):163-8.

Chehab FF, Wall J, Kan YW. Amplification and detection of specific DNA sequences with fluorescent PCR primers: application to delta F508 mutation in cystic fibrosis. Methods Enzymol 1992;216:135-43.

Chong GL, Thibodeau SN. A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation. Mayo Clin Proc 1990 Aug;65(8):1072-6.

Cormier-Daire V, Clavel C, Polette M, Doco M, Boutterin MC, Binninger I, Birembaut P. Non radioactive single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene using the Pharmacia PhastSystem. Pathol Biol (Paris) 1993 Oct;41(8 ):713-5.

Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 1993;2(3):185-91.

Costes B, Girodon E, Ghanem N, Chassignol M, Thuong NT, Dupret D, Goossens M. Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping. Hum Mol Genet 1 993 Apr;2(4):393-7.

Cremonesi L, Belloni E, Magnani C, Seia M, Ferrari M. Multiplex PCR for rapid detection of three mutations in the cystic fibrosis gene. PCR Methods Appl 1992 May;1(4):297-8.

Cronin MT, Fucini RV, Kim SM, Masino RS, Wespi RM, Miyada CG. Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays. Hum Mutat 1996;7(3):244-55.

Cuppens H, Buyse I, Baens M, Marynen P, Cassiman JJ. Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot. Mol Cell Probes 1992 Feb;6(1):33-9.

Davidow LS. Selecting PCR designed mismatch primers to create diagnostic restriction sites. Comput Appl Biosci 1992 Apr;8(2):193-4.

de Vries HG, Collee JM, van Veldhuizen MH, Achterhof L, Smit Sibinga CT, Scheffer H, Buys CH, ten Kate LP. Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashes. Hum Genet 1996 Mar;97(3):334-6.

DeMarchi JM, Beaudet AL, Caskey CT, Richards CS. Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations. Arch Pathol Lab Med 1994 Jan;118(1):26-32.

DeMarchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Hum Mutat 1994;4(4):281-90.

Devoto M, Ronchetto P, Fanen P, Orriols JJ, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L. Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. Am J Hum G enet 1991 Jun;48(6):1127-32.

Dodson LA, Kant JA. Two-temperature PCR and heteroduplex detection: application to rapid cystic fibrosis screening. Mol Cell Probes 1991 Feb;5(1):21-5.

Dorval I, Fergelot P, Dubourg C, Jezequel P, Chauvel B, Le Gall JY, Le Treut A. Rapid detection of 1078 delT mutation by PCR-mediated site-directed mutagenesis: detection of cystic fibrosis carriers in a celtic population. Clin Chem 1994 Dec;40(12):231 8-9.

Efremov DG, Dimovski AJ, Jankovic L, Efremov GD. Mutant oligonucleotide extension amplification: a nonlabeling polymerase-chain-reaction-based assay for the detection of point mutations. Acta Haematol 1991;85(2):66-70.

Eggerding FA. A one-step coupled amplification and oligonucleotide ligation procedure for multiplex genetic typing. PCR Methods Appl 1995 Jun;4(6):337-45.

Eggerding FA, Iovannisci DM, Brinson E, Grossman P, Winn-Deen ES. Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations. Hum Mutat 1995;5(2):153-65.

Estivill X, Morral N, Casals T, Nunes V. Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles [letter]. Lancet 1991 Aug 17;338(8764):458.

Fang P, Bouma S, Jou C, Gordon J, Beaudet AL. Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction. Hum Mutat 1995;6(2):144-51.

Fanning S, Joyce C, Corbett A, O'Mullane J, Cryan B. Applications of the polymerase chain reaction (PCR) in diagnosis. Ir J Med Sci 1995 Apr-Jun;164(2):116-21.

Fellowes AP, Murphy JM, Wesley AW, Dawson KP, George PM. Molecular screening of cystic fibrosis patients. N Z Med J 1991 Oct 9;104(921):415-6.

Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, Little S. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992 Aug;51(2):251-62.

Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, et al. Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex al lele-specific polymerase chain reaction. Hum Genet 1992 Dec;90(4):375-8.

Fortina P, Conant R, Parrella T, Rappaport E, Scanlin T, Schwartz E, Robertson JM, Surrey S. Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the delta F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFT R) gene. Mol Cell Probes 1992 Aug;6(4):353-6.

Friedman KJ, Highsmith WE Jr, Prior TW, Perry TR, Silverman LM. Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis. Clin Chem 1990 Apr;36(4):695-6. Comment in: Clin Chem 1990 Sep;36(9):1702-4.

Friedman KJ, Highsmith WE Jr, Silverman LM. Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem 1991 May;37(5):753-5.

Fujimura FK, Northrup H, Beaudet AL, O'Brien WE. Genotyping errors with the polymerase chain reaction [letter]. N Engl J Med 1990 Jan 4;322(1):61.

Gasparini P, Bonizzato A, Dognini M, Pignatti PF. Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. Mol Cell Probes 1992 Feb;6(1):1-7.

Gelfi C, Righetti PG, Brancolini V, Cremonesi L, Ferrari M. Capillary electrophoresis in polymer networks for analysis of PCR products: detection of delta F508 mutation in cystic fibrosis [letter]. Clin Chem 1994 Aug;40(8):1603-5.

Gelfi C, Righetti PG, Cremonesi L, Ferrari M. Detection of point mutations by capillary electrophoresis in liquid polymers in temporal thermal gradients. Electrophoresis 1994 Dec;15(12):1506-11.

Gelfi C, Righetti PG, Magnani C, Cremonesi L, Ferrari M. Simultaneous detection of delta F508, G542X, N1303K and 1717-1G-->A mutations in cystic fibrosis by capillary electrophoresis in polymer networks. Clin Chim Acta 1994 Sep;229(1-2):181-9.

Ghanem N, Fanen P, Martin J, Conteville P, Yahia-Cherif Z, Vidaud M, Goossens M. Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis. M ol Cell Probes 1992 Feb;6(1):27-31.

Gilfillan A, Axton R, Brock DJ. Mass screening for cystic fibrosis heterozygotes: two assay systems compared. Clin Chem 1994 Feb;40(2):197-9.

Gille C, Grade K, Coutelle C. A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation. Hum Genet 1991 Jan;86(3):289-91.

Glavac D, Dean M. Applications of heteroduplex analysis for mutation detection in disease genes. Hum Mutat 1995;6(4):281-7.

Grau O, Griffais R. Diagnosis of mutations by the PCR double RFLP method (PCR-dRFLP). Nucleic Acids Res 1994 Dec 25;22(25):5773-4.

Gregg RG, Wilfond BS, Farrell PM, Laxova A, Hassemer D, Mischler EH. Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet 1993 Mar;52(3):616-26.< /P>

Gudibande SR, Kenten JH, Link J, Friedman K, Massey RJ. Rapid, non-separation electrochemiluminescent DNA hybridization assays for PCR products, using 3'-labelled oligonucleotide probes. Mol Cell Probes 1992 Dec;6(6):495-503.

Guy-Crotte O, Barthe C, Figarella C. Cystic fibrosis proteins detected by electrophoretic techniques. Electrophoresis 1989 Aug-Sep;10(8-9):628-32.

Hajra A, Sorenson RC, La Du BN. Detection of human DNA mutations with nonradioactive, allele-specific oligonucleotide probes. Pharmacogenetics 1992 Apr;2(2):78-88.

Hammond KB, Abman SH, Sokol RJ, Accurso FJ. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 1991 Sep 12;325(11):769-74. Comment in: N Engl J Med 1991 Sep 12;325(11):802-4.

Hassemer DJ, Laessig RH, Hoffman GL, Farrell PM. Laboratory quality control issues related to screening newborns for cystic fibrosis using immunoreactive trypsin. Pediatr Pulmonol Suppl 1991;7:76-83.

Heeley AF, Bangert SK. The neonatal detection of cystic fibrosis by measurement of immunoreactive trypsin in blood. Ann Clin Biochem 1992 Jul;29(Pt 4):361-76.

Heeley ME, Travert G, Ferre C, Lemonnier F. The international quality assurance program (IRTIQAS) for the assay of immunoreactive trypsin in dried blood spots. Pediatr Pulmonol Suppl 1991;7:72-5.

Hopfer SM, Makowski GS, Davis EL, Aslanzadeh J. Detection of cystic fibrosis delta F508 mutation by anti-double-stranded DNA antibody. Ann Clin Lab Sci 1995 Nov-Dec;25(6):475-84.

Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C. Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes. Hum Mutat 1996;8(3):229-35.

Iitia A, Hogdall E, Dahlen P, Hurskainen P, Vuust J, Siitari H. Detection of mutation delta F508 in the cystic fibrosis gene using allele-specific PCR primers and time-resolved fluorometry. PCR Methods Appl 1992 Nov;2(2):157-62.

Iitia A, Liukkonen L, Siitari H. Simultaneous detection of two cystic fibrosis alleles using dual-label time-resolved fluorometry. Mol Cell Probes 1992 Dec;6(6):505-12.

Imberti L, Sottini A, Bettinardi A, Mazza C, Albertini A, Primi D. Non-radioisotopic methods for DNA probes. Ann Biol Clin (Paris) 1992;50(3):163-7.

Iovanna JL, Ferec C, Sarles J, Dagorn JC. The pancreatitis-associated protein (PAP). A new candidate for neonatal screening of cystic fibrosis. C R Acad Sci III 1994 Jun;317(6):561-4.

Jalanko A, Kere J, Savilahti E, Schwartz M, Syvanen AC, Ranki M, Soderlund H. Screening for defined cystic fibrosis mutations by solid-phase minisequencing. Clin Chem 1992 Jan;38(1):39-43.

Kant JA, Mifflin TE, McGlennen R, Rice E, Naylor E, Cooper DL. Molecular diagnosis of cystic fibrosis. Clin Lab Med 1995 Dec;15(4):877-98.

Kuppuswamy MN, Hoffmann JW, Kasper CK, Spitzer SG, Groce SL, Bajaj SP. Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. Proc Natl Acad Sci U S A 1991 Feb 15;8 8(4):1143-7.

Laroche D, Travert G. The application of PCR amplification and the polymorphic marker KM.19 to dried blood spots: comparison with deletion 508 for the confirmation of the neonatal screening test for cystic fibrosis. Pediatr Pulmonol Suppl 1991;7:19-22.

Lazaro C, Estivill X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis. Mol Cell Probes 1992 Oct;6(5):357-9.

Lee LG, Connell CR, Bloch W. Allelic discrimination by nick-translation PCR with fluorogenic probes. Nucleic Acids Res 1993 Aug 11;21(16):3761-6.

Lieberman J. A CF-lectin factor in amniotic fluid from pregnancies at risk for cystic fibrosis. Am J Med Sci 1991 Sep;302(3):142-4.

Lishanski A, Ostrander EA, Rine J. Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene. Proc Natl Acad Sci U S A 1994 Mar 29;91(7):2674-8.

Makowski GS, Aslanzadeh J, Hopfer SM. In situ PCR amplification of Guthrie card DNA to detect cystic fibrosis mutations [letter]. Clin Chem 1995 Mar;41(3):477-9.

Makowski GS, Aslanzadeh J, Hopfer SM. Mini-gel PAGE for enhanced resolution of polymerase chain reaction detection of delta F508 deletion in cystic fibrosis [letter]. Clin Chem 1993 Oct;39(10):2204-5.

Martinelli RA, Arruda JC, Dwivedi P. Chemiluminescent hybridization-ligation assays for delta F508 and delta I507 cystic fibrosis mutations. Clin Chem 1996 Jan;42(1):14-8.

Mazza C, Mantero G, Primi D. DNA enzyme immunoassay: a rapid and convenient colorimetric method for diagnosis of cystic fibrosis. Mol Cell Probes 1991 Dec;5(6):459-66.

McCabe ER. Genetic screening for the next decade: application of present and new technologies. Yale J Biol Med 1991 Jan-Feb;64(1):9-14.

McCabe ER. Utility of PCR for DNA analysis from dried blood spots on filter paper blotters. PCR Methods Appl 1991 Nov;1(2):99-106.

McHale RH, Stapleton PM, Bergquist PL. Rapid preparation of blood and tissue samples for polymerase chain reaction. Biotechniques 1991 Jan;10(1):20, 22-3.

Miedzybrodzka ZH, Yin Z, Kelly KF, Haites NE. Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs. J Med Genet 1994 Jul;31(7):545-50.

Miele L, Peri A, Cordella-Miele E, Mukherjee AB. Nonradiometric ELISA-based quantitation and validation of polymerase chain reaction-amplified DNA, including detection of point mutations, without allele-specific amplification, or ligation. DNA Cell Bio l 1994 Dec;13(12):1233-42.

Mornet E, Chateau C, Simon-Bouy B, Boue J, Zielenski J, Tsui LC, Boue A. Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism. Hum Genet 1992 Feb;88(4):479-81.

Morral N, Estivill X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics 1992 Aug;13(4):1362-4.

Naylor EW. New technologies in newborn screening. Yale J Biol Med 1991 Jan-Feb;64(1):21-4.

Newton CR, Schwarz M, Summers C, Heptinstall LE, Graham A, Smith JC, Super M, Markham AF. Detection of delta F508 deletion by amplification refractory mutation system [letter]. Lancet 1990 May 19;335(8699):1217-9.

Newton CR, Summers C, Heptinstall LE, Lynch JR, Finniear RS, Ogilvie D, Smith JC, Markham AF. Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism. J Med Genet 1991 Apr;28(4):248-51.

Ng IS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet AL. Methods for analysis of multiple cystic fibrosis mutations. Hum Genet 1991 Sep;87(5):613-7.

Palacios J, Ezquieta B, Gamallo C, Limeres MA, Benito N, Rodriguez JI, Molano J. Detection of delta F508 cystic fibrosis mutation by polymerase chain reaction from old paraffin-embedded tissues: a retrospective autopsy study. Mod Pathol 1994 Apr;7(3):3 92-5.

Pederzini F, Faraguna D, Giglio L, Pedrotti D, Perobelli L, Mastella G. Development of a screening system for cystic fibrosis: meconium or blood spot trypsin assay or both? Acta Paediatr Scand 1990 Oct;79(10):935-42.

Petty EM, Gold E, Bale AE. DNA diagnosis with mutation-specific artificial methylation sites: application to rapid screening of delta F508. Clin Chem 1992 Dec;38(12):2422-5.

Picci L, Anglani F, Scarpa M, Zacchello F. Screening for cystic fibrosis gene mutations by multiplex DNA amplification. Hum Genet 1992 Mar;88(5):552-6.

Plaha DS, Linforth GH, Duckett DP, Scott-Jupp R, Tanner MS, Jeffreys AJ. Three-base pair resolution of DNA fragments on agarose: application to delta F508 analysis in cystic fibrosis. Biotechniques 1993 Apr;14(4):566-7.

Plieth J, Rininsland F, Schlosser M, Cooper DN, Reiss J. Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients. Hum Genet 1992 Jan;88(3):283-7.

Priest FJ, Nevin NC. False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13 [letter]. J Med Genet 1991 Aug;28(8):575-6.

Prior TW, Highsmith WE Jr, Friedman KJ, Perry TR, Scheuerbrandt G, Silverman LM. A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis. Clin Chem 1990 Oct;36(10):1756-9.

Purves LR, Rubinstein R, Maxwell J, Leisegang F, Ireland J. Robust and inexpensive equipment design for polymerase chain reaction detection of sequence mutations. Cystic fibrosis in a mother and 2 children analysed. S Afr Med J 1993 Jan;83(1):25-7.

Rady M, D'Alcamo E, Seia M, Iapichino L, Ferrari M, Russo S, Romeo G, Maggio A. Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis. Mol Cell Probes 1995 Oct;9(5):357-60.

Ranieri E, Lewis BD, Gerace RL, Ryall RG, Morris CP, Nelson PV, Carey WF, Robertson EF. Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience. BMJ 1994 Jun 4;308(6942):1469-72.

Ranieri E, Ryall RG, Morris CP, Nelson PV, Carey WF, Pollard AC, Robertson EF. Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. BMJ 1991 May 25;302(6787):1237-40. Comment in: BMJ 1991 Jul 6;303 (6793):56.

Rapid screening for delta F508 deletion in cystic fibrosis [letter]. Lancet 1989 Dec 2;2(8675):1345-6.

Raskin S, Phillips JA 3d, Kaplan G, McClure M, Vnencak-Jones C. Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots. PCR Methods Appl 1992 Nov;2(2):154-6.

Raskin S, Phillips JA 3d, Vnencak-Jones C, Dawson E, Kaplan G, McClure M. Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis. Biotechniques 1992 Sep;13(3):372-4.

Ravnik-Glavac M, Glavac D, Dean M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 1994 May;3(5):801-7.

Reiss J, Cooper DN. Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet 1990 Jun;85(1):1-8.

Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, Parad RB, Witt D, Klinger KW. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 1993 Feb;2(2):159-63.

Rock MJ, Mischler EH, Farrell PM, Bruns WT, Hassemer DJ, Laessig RH. Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test. Pediatr Pulmonol 1989;6(1):42-8.

Rock MJ, Mischler EH, Farrell PM, Wei LJ, Bruns WT, Hassemer DJ, Laessig RH. Newborn screening for cystic fibrosis is complicated by age-related decline in immunoreactive trypsinogen levels. Pediatrics 1990 Jun;85(6):1001-7. Comment in: Pediatrics 199 1 Jun;87(6):954-6.

Romey MC, Aguilar-Martinez P, Demaille J, Claustres M. Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis. Hum Genet 1993 Dec;92(6):627-8.

Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M. Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test. Hum Genet 1996 Sep;98(3):328-32.

Rommens J, Kerem BS, Greer W, Chang P, Tsui LC, Ray P. Rapid nonradioactive detection of the major cystic fibrosis mutation [letter]. Am J Hum Genet 1990 Feb;46(2):395-6.

Ryall RG, Gjerde EM, Gerace RL, Ranieri E. Modifying an enzyme immunoassay of immunoreactive trypsinogen to use time-resolved fluorescence. Clin Chem 1993 Feb;39(2):224-8.

Samiotaki M, Kwiatkowski M, Parik J, Landegren U. Dual-color detection of DNA sequence variants by ligase-mediated analysis. Genomics 1994 Mar 15;20(2):238-42.

Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B. Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay. Int J Clin Lab Res 1995; 25(3):142-5.

Schaaff F, Wedemann H, Schwinger E. Analysis of sex and delta F508 in single amniocytes using primer extension preamplification. Hum Genet 1996 Aug;98(2):158-61.

Seltzer WK, Accurso F, Fall MZ, VanRiper AJ, Descartes M, Huang Y, McCabe ER. Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens. Biochem Med Metab Biol 1991 Aug;46(1):105-9.

Serre JL, Taillandier A, Mornet E, Simon-Bouy B, Boue J, Boue A. Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot. Genomics 1991 Dec;11(4):1149-5 1.

Shuber AP, Skoletsky J, Stern R, Handelin BL. Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis. Hum Mol Genet 1993 Feb;2(2):153-8.

Silverman LM, Highsmith WE Jr. Automation and the single-gene disorder: cystic fibrosis as a model [editorial]. Clin Chem 1992 Jan;38(1):7-8.

Skogerboe KJ, West SF, Murillo MD, Tait JF. Development and evaluation of a simplified dot-blot method for detecting the delta F508 mutation in cystic fibrosis. Clin Chem 1990 Nov;36(11):1984-6.

Sorscher EJ, Huang Z. Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa. Lancet 1991 May 11;337(8750):1115-8. Comment in: Lancet 1991 Jun 29;337(8757):1609.

Stern HJ, Carlos RD, Schutzbank TE. Rapid detection of the delta F508 deletion in cystic fibrosis by allele specific PCR and electrochemiluminescent detection. Clin Biochem 1995 Aug;28(4):470-3.

Stuhrmann M, Schmidtke J. PCR-based mutation analysis in cystic fibrosis. Ann Med 1992 Jun;24(3):183-5.

Taylor GR, Noble JS, Mueller RF. Automated analysis of multiplex microsatellites. J Med Genet 1994 Dec;31(12):937-43.

Uitterlinden AG. Gene and genome scanning by two-dimensional DNA typing. Electrophoresis 1995 Feb;16(2):186-96.

Verlingue C, Mercier B, Lecoq I, Audrezet MP, Laroche D, Travert G, Ferec C. Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibr osis. Hum Genet 1994 Apr;93(4):429-34.

Vijg J, Wu Y, Uitterlinden AG, Mullaart E. Two-dimensional DNA electrophoresis in mutation detection. Mutat Res 1994 Jul 16;308(2):205-14.

Voronina OV, Gaitskhoki VS, Potapova OJu, Schwartz EI. A simple test for the detection of the delta F508 cystic fibrosis mutation [letter]. Biochem Med Metab Biol 1991 Oct;46(2):271-3.

Wall J, Cai S, Chehab FF. A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Hum Mutat 1995;5(4):333-8.

Weidner J, Eigel A, Horst J, Kohnlein W. Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis. Hum Mutat 1994;4(1):55-6.

Wesley AW, Smith PA, Elliott RB. Experience with neonatal screening for cystic fibrosis in New Zealand using measurement of immunoreactive trypsinogen. Aust Paediatr J 1989 Jun;25(3):151-5.

White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992 Feb;12(2):301-6.

Wilson DC, Leslie H, Edgar JD, Halliday HL, Dodge JA. Neonatal infection does not affect the immunoreactive trypsinogen screening test for cystic fibrosis. J Pediatr Gastroenterol Nutr 1994 Jul;19(1):97-9.

Wittwer CT, Marshall BC, Reed GH, Cherry JL. Rapid cycle allele-specific amplification: studies with the cystic fibrosis delta F508 locus. Clin Chem 1993 May;39(5):804-9.

Wu Y, Hofstra RM, Scheffer H, Uitterlinden AG, Mullaart E, Buys CH, Vijg J. Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis. Hum Mutat 1996;8(2):160-7.

SCREENING FOR CYSTIC FIBROSIS GENE CARRIERS

Anderson C. Widespread CF testing inevitable, congressional report finds [news]. Nature 1992 Aug 13;358(6387):529.

Arzimanoglou II, Tuchman A, Li Z, Gilbert F, Denning C, Valverde K, Zar H, Quittell L, Arzimanoglou I [corrected to Arzimanoglou II]. Cystic fibrosis carrier screening in Hispanics [letter]. Am J Hum Genet 1995 Feb;56(2):544-7. Comment on: Am J Hum Ge net 1994 Mar;54(3):443-6. Comment in: Am J Hum Genet 1996 Jul;59(1):269-72. Published erratum appears in Am J Hum Genet 1996 Sep;59(2):492.

Asch DA, Patton JP, Hershey JC, Mennuti MT. Reporting the results of cystic fibrosis carrier screening. Am J Obstet Gynecol 1993 Jan;168(1 Pt 1):1-6. Comment in: Am J Obstet Gynecol 1993 Nov;169(5):1358-9.

Axworthy D, Brock DJ, Bobrow M, Marteau TM. Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet 1996 May 25;347(9013):1443-6. Comment in: Lancet 1996 May 25;3 47(9013):1421-2.

Balfour-Lynn I, Madge S, Dinwiddie R. Carrier testing in children for cystic fibrosis [letter]. BMJ 1995 Feb 25;310(6978):530. Comments on: BMJ 1994 Nov 26;309(6966):1428-9; BMJ 1994 Nov 26;309(6966):1429-30.

Balfour-Lynn I, Madge S, Dinwiddie R. Testing carrier status in siblings of patients with cystic fibrosis. Arch Dis Child 1995 Feb;72(2):167-8.

Beaudet AL. Carrier screening for cystic fibrosis [editorial]. Am J Hum Genet 1990 Oct;47(4):603-5.

Beaudet AL. Genetic testing for cystic fibrosis. Pediatr Clin North Am 1992 Apr;39(2):213-28.

Beaudet AL, O'Brien WE. Advantages of a two-step laboratory approach for cystic fibrosis carrier screening [letter]. Am J Hum Genet 1992 Feb;50(2):439-40.

Bekker H, Denniss G, Modell M, Bobrow M, Marteau T. The impact of population based screening for carriers of cystic fibrosis. J Med Genet 1994 May;31(5):364-8.

Bekker H, Modell M, Denniss G, Silver A, Mathew C, Bobrow M, Marteau T. Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ 1993 Jun 12;306(6892):1584-6. Comment in: BMJ 1993 Jun 12;306(6892):1558-9.

Bernhardt BA. Population screening for the cystic fibrosis gene [letter]. N Engl J Med 1991 Jan 3;324(1):61-2.

Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Tambor ES, Holtzman NA. Educating patients about cystic fibrosis carrier screening in a primary care setting. Arch Fam Med 1996 Jun;5(6):336-40.

Biesecker L, Bowles-Biesecker B, Collins F, Kaback M, Wilfond B. General population screening for cystic fibrosis is premature [letter]. Am J Hum Genet 1992 Feb;50(2):438-9.

Botkin JR, Alemagno S. Carrier screening for cystic fibrosis: a pilot study of the attitudes of pregnant women. Am J Public Health 1992 May;82(5):723-5.

Boulton M, Cummings C, Williamson R. The views of general practitioners on community carrier screening for cystic fibrosis. Br J Gen Pract 1996 May;46(406):299-301.

Brock D. Population screening for cystic fibrosis [letter]. Am J Hum Genet 1990 Jul;47(1):164-5. Comment in: Am J Hum Genet 1990 Oct;47(4):740.

Brock DJ. Carrier screening for cystic fibrosis. Prenat Diagn 1994 Dec;14(13):1243-52. Comment in: Prenat Diagn 1995 Nov;15(11):1082-3.

Brock DJ. Heterozygote screening for cystic fibrosis. Eur J Hum Genet 1995;3(1):2-13.

Brock DJ. Heterozygote screening for cystic fibrosis. J Med Screen 1994 Apr;1(2):130-3; discussion 133-4.

Brock DJ. Screening for cystic fibrosis carriers [letter]. Lancet 1992 Oct 17;340(8825):984. Comment on: Lancet 1992 Aug 22;340(8817):490-1.

Burn J. Screening for cystic fibrosis in primary care [editorial]. BMJ 1993 Jun 12;306(6892):1558-9. Comments on: BMJ 1993 Jun 12;306(6892):1580-3; BMJ 1993 Jun 12;306(6892):1584-6. Comment in: BMJ 1993 Jul 24;307(6898):263.

Burn J, Magnay D. Screening for cystic fibrosis. Screening in primary care is preferable [letter]. BMJ 1994 Oct 1;309(6958):878. Comments on: BMJ 1994 Jul 30;309(6950):339; BMJ 1994 Jul 30;309(6950):340.

Burn J, Magnay D, Claber O, Curtis A. Population screening in cystic fibrosis. J R Soc Med 1993;86 Suppl 20:2-6.

Carswell F. Whole-population screening for carriers of cystic fibrosis gene. Lancet 1996 May 25;347(9013):1421-2. Comment on: Lancet 1996 May 25;347(9013):1443-6.

Claustres M, Desgeorges M, Kjellberg P, Demaille J. Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family. Genet Couns 1990;1(3-4):211-7.

Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW 3rd, Phillips JA 3rd. Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. Am J Hum Genet 1996 Mar;58(3):617-27.

Clayton EW, Hannig VL, Pfotenhauer JP, Parker RA, Campbell PW 3rd, Phillips JA 3rd. Teaching about cystic fibrosis carrier screening by using written and video information. Am J Hum Genet 1995 Jul;57(1):171-81.

Cobb E, Holloway S, Elton R, Raeburn JA. What do young people think about screening for cystic fibrosis? J Med Genet 1991 May;28(5):322-4.

Conway SP, Allenby K, Pond MN. Patient and parental attitudes toward genetic screening and its implications at an adult cystic fibrosis centre. Clin Genet 1994 Jun;45(6):308-12.

Cooper JD, Franks AJ. Screening for cystic fibrosis. Screening before pregnancy is preferred [letter]. BMJ 1994 Jul 30;309(6950):339. Comment on: BMJ 1994 Jun 4;308(6942):1459-62. Comment in: BMJ 1994 Oct 1;309(6958):878.

Coutelle C, Grade K, Speer A, Will K, Gille C, Szibor R, Gedschold J, Bruckner R, Steinbicker V, Bauer I, et al. Present state of DNA-diagnosis for cystic fibrosis and attitudes concerning a heterozygote screening in the GDR. Adv Exp Med Biol 1991;290: 75-8; discussion 78-81.

Cuckle H, Lilford R, Wilson J, Sehmi I. Direct marketing of cystic fibrosis carrier screening: commercial push or population need? [letter]. J Med Genet 1995 Sep;32(9):758.

Danks DM. Carrier testing for cystic fibrosis [editorial]. Med J Aust 1993 Aug 2;159(3):148-50. Comment on: Med J Aust 1993 Aug 2;159(3):163-5.

Davies K. Genetic screening for cystic fibrosis. Nature 1992 Jun 4;357(6377):[facing page 424].

de Vries HG, Collee JM, Meeuwsen WP, Scheffer H, Ten Kate LP. Number and sex of offspring of delta F508 carriers outside cystic fibrosis families. Hum Genet 1995 May;95(5):575-6.

Dean JC, Kelly KF, Miedzybrodzka Z, Shrimpton AE. Screening for carriers of cystic fibrosis [letter]. BMJ 1991 Jan 5;302(6767):53. Comment on: BMJ 1990 Nov 10;301(6760):1081. Published erratum appears in BMJ 1991 Jan 26;302(6770):240.

Denayer L, Evers-Kiebooms G, Van den Berghe H. A child with cystic fibrosis: I. Parental knowledge about the genetic transmission of CF and about DNA-diagnostic procedures. Clin Genet 1990 Mar;37(3):198-206.

Denayer L, Welkenhuysen M, Evers-Kiebooms G, Cassiman JJ, Van den Berghe H. The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year. Clin Genet 1996 May;49(5):23 2-6.

Dodge JA, Boulyjenkov V. New possibilities for population control of cystic fibrosis. Bull World Health Organ 1992;70(5):561-6.

Edwards JH, Miciak A. The slash sheet: a simple procedure for risk analysis in cystic fibrosis [letter]. Am J Hum Genet 1990 Dec;47(6):1024-8.

Elias S, Annas GJ. Generic consent for genetic screening. N Engl J Med 1994 Jun 2;330(22):1611-3. Comment in: N Engl J Med 1994 Oct 13;331(15):1024; discussion 1025.

Elias S, Annas GJ, Simpson JL. Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice. Am J Obstet Gynecol 1991 Apr;164(4):1077-83.

Evers-Kiebooms G, Denayer L, Welkenhuysen M, Cassiman JJ, Van den Berghe H. A stigmatizing effect of the carrier status for cystic fibrosis? Clin Genet 1994 Nov;46(5):336-43.

Faden RR, Tambor ES, Chase GA, Geller G, Hofman KJ, Holtzman NA. Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening. Am J Med Genet 1994 Mar 1;50(1):1-11.

Fanos JH, Johnson JP. Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing. Am J Med Genet 1995 Oct 23;59(1):85-91.

Flinter FA, Silver A, Mathew CG, Bobrow M. Population screening for cystic fibrosis [letter]. Lancet 1992 Jun 20;339(8808):1539-40.

Gardner RJ, Hughes PM, Lovell-Smith CJ, Beresford CH. Attitudes of Dunedin medical students to population carrier screening for cystic fibrosis [letter]. N Z Med J 1991 Jun 26;104(914):268.

Gettig B, Venne V. Clarification needed to cystic fibrosis model [letter]. Am J Obstet Gynecol 1993 Nov;169(5):1358-9. Comment on: Am J Obstet Gynecol 1993 Jan;168(1 Pt 1):1-6.

Gilbert F. Cystic fibrosis carrier screening: comparability of data and uniformity of testing [letter]. Am J Hum Genet 1994 May;54(5):925-7.

Gilbert F. Is population screening for cystic fibrosis appropriate now? [letter]. Am J Hum Genet 1990 Feb;46(2):394-5.

Green JM. Principles and practicalities of carrier screening: attitudes of recent parents. J Med Genet 1992 May;29(5):313-9.

Grody WW, Kronquist KE, Lee EU, Edmond J, Rome LH. PCR-based cystic fibrosis (CF) carrier screening in a first-year medical student biochemistry laboratory. Am J Hum Genet 1993 Dec;53(6):1352-5.

Haan EA. Screening for carriers of genetic disease: points to consider. Med J Aust 1993 Mar 15;158(6):419-21.

Harper PS. Direct marketing of cystic fibrosis carrier screening: commercial push or population need? [editorial]. J Med Genet 1995 Apr;32(4):249-50.

Holloway S, Brock DJ. Cascade testing for the identification of carriers of cystic fibrosis. J Med Screen 1994 Jul;1(3):159-64.

Johnson RB. Cystic fibrosis and heterozygote fitness [letter]. JAMA 1990 Dec 12;264(22):2867-8. Comment on: JAMA 1990 May 23-30;263(20):2777-83.

Jones P, Billett M, Scotting P, Raeburn S. Genetic testing in the classroom [letter]. BMJ 1995 Oct 14;311(7011):1026.

Kaplan F, Clow C, Scriver CR. Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants. Am J Hum Genet 1991 Jul;49(1):240-2.

Lieberman J. Cystic fibrosis screening: research alternatives needed [letter]. Lancet 1990 May 26;335(8700):1284.

Loader S, Caldwell P, Kozyra A, Levenkron JC, Boehm CD, Kazazian HH Jr, Rowley PT. Cystic fibrosis carrier population screening in the primary care setting. Am J Hum Genet 1996 Jul;59(1):234-47.

Magnay D, Wilson O, el Hait S, Balhamar M, Burn J. Carrier testing for cystic fibrosis: knowledge and attitudes within a local community. J R Coll Physicians Lond 1992 Jan;26(1):69-70.

Marteau T. Active cascade screening for cystic fibrosis. BMJ 1994 Jun 4;308(6942):1468. Comment on: BMJ 1994 Jun 4;308(6942):1462-7. Comment in: BMJ 1994 Oct 1;309(6958):877-8.

Marteau T. The need for caution on genetic screening. New Sci 1990 Dec 15;128(1747):6.

Marteau T. Screening for carriers of cystic fibrosis. Psychological consequences are unclear. BMJ 1994 Nov 26;309(6966):1429-30. Comment in: BMJ 1995 Feb 25;310(6978):530.

Miedzybrodzka Z, Haites N, Hall M, Templeton A, Marteau T, Dean J, Kelly K, Russell I. Antenatal cystic fibrosis carrier screening--whether, when and how? Paediatr Perinat Epidemiol 1993 Oct;7(4):368-75.

Miller SK. Few take up offer of gene screening [news]. New Sci 1993 Sep 18;139(1891):6.

Mitchell J, Scriver CR, Clow CL, Kaplan F. What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet 1993 Jul;30(7):538-42.

Modell B. Cystic fibrosis screening and community genetics. J Med Genet 1990 Aug;27(8):475-9. Comment in: J Med Genet 1991 Aug;28(8):575.

Modell M. Screening for carriers of cystic fibrosis--a general practitioner's perspective. BMJ 1993 Oct 2;307(6908):849-52. Comment in: BMJ 1993 Oct 2;307(6908):816-7.

Molina Cabanero JC, Perez Jurado LA, Raskin S, Vicario JL, Balas Perez A, Garcia Novo MD. Simple method for cystic fibrosis carrier screening [letter]. Lancet 1992 Oct 17;340(8825):983-4.

Myers MF, Bernhardt BA, Tambor ES, Holtzman NA. Involving consumers in the development of an educational program for cystic fibrosis carrier screening. Am J Hum Genet 1994 Apr;54(4):719-26.

Neiger R, Abuelo DN, Passero MA. Attitudes toward genetic testing for cystic fibrosis among college students. J Genet Couns 1992 Sep;1(3):219-26.

Nishimi RY. From the Office of Technology Assessment. JAMA 1993 Apr 21;269(15):1921.

Quereshi N. Screening for cystic fibrosis. General practitioners should be involved [letter]. BMJ 1994 Jul 30;309(6950):340. Comments on: BMJ 1994 Jun 4;308(6942):1459-62; BMJ 1994 Jun 4;308(6942):1462-7. Comment in: BMJ 1994 Oct 1;309(6958):878.

Raeburn JA. Screening for carriers of cystic fibrosis. Screening before pregnancy is needed. BMJ 1994 Nov 26;309(6966):1428-9. Comment in: BMJ 1995 Feb 25;310(6978):530.

Raeburn JA, Marteau T. Screening for carriers of cystic fibrosis. BMJ 1994 Nov 26;309(6966):1428-30.

Raeburn S. Screening for carriers of cystic fibrosis [editorial]. BMJ 1994 Jun 4;308(6942):1451-2. Comments on: BMJ 1994 Jun 4;308(6942):1459-62; BMJ 1994 Jun 4;308(6942):1462-7.

Rowley PT, Loader S, Levenkron JC, Phelps CE. Cystic fibrosis carrier screening: knowledge and attitudes of prenatal care providers. Am J Prev Med 1993 Sep-Oct;9(5):261-6.

Schmidtke J. Proceed with much more caution. Hum Genet 1994 Jul;94(1):25-7; discussion 28-30. Comment on: Hum Genet 1994 Jul;94(1):19-24.

Schulman JD, Maddalena A, Black SH, Bick DP. Screening for cystic fibrosis carriers [letter]. Am J Hum Genet 1990 Oct;47(4):740. Comment on: Am J Hum Genet 1990 Jul;47(1):164-5.

Sennhauser FH, Liechti-Gallati S, Moser H. Screening for carriers of cystic fibrosis among partners of people heterozygous for the disease. BMJ 1990 Nov 10;301(6760):1081. Comment in: BMJ 1991 Jan 5;302(6767):53.

Shrimpton AE, Brock DJ. Molecular screening of partners of cystic fibrosis heterozygotes. Genet Couns 1992;3(1):13-8.

Smith MJ. An evaluation of population screening for carriers of cystic fibrosis. J Public Health Med 1992 Sep;14(3):257-63.

Sorenson JR, Cheuvront B, Bruning A, Talton S, DeVellis B, Koch G, Callanan N, Fernald G. Proband and parent assistance in identifying relatives for cystic fibrosis carrier testing. Am J Med Genet 1996 Jun 14;63(3):419-25.

Stewart AD. Screening for cystic fibrosis [letter]. Nature 1989 Oct 26;341(6244):696.

Super M, Malone G, Schwarz MJ, Howarth A, Roberts T. Screening for cystic fibrosis. Specialists get on with it [letter]. BMJ 1993 Jul 24;307(6898):263. Comment on: BMJ 1993 Jun 12;306(6892):1558-9.

Super M, Schwarz MJ, Malone G. Screening for cystic fibrosis carriers [letter]. Lancet 1992 Aug 22;340(8817):490-1. Comment on: Lancet 1992 Jul 25;340(8813):209-10. Comment in: Lancet 1992 Oct 17;340(8825):984.

Super M, Schwarz MJ, Malone G, Roberts T, Haworth A, Dermody G. Active cascade testing for carriers of cystic fibrosis gene. BMJ 1994 Jun 4;308(6942):1462-7. Comments in: BMJ 1994 Jun 4;308(6942):1451-2; BMJ 1994 Jun 4;308(6942):1468; BMJ 1994 Jul 30 ;309(6950):339-40; BMJ 1994 Jul 30;309(6950):340.

Super M, Schwarz MJ, Sardhawalla IB. CF screening [letter]. Nature 1990 Mar 8;344(6262):113-4. Comment on: Nature 1989 Nov 9;342(6246):131. Published erratum appears in Nature 1990 Mar 29;344(6265):388.

Surh LC, Cappelli M, MacDonald NE, Mettler G, Dales RE. Cystic fibrosis carrier screening in a high-risk population. Participation based on a traditional recruitment process. Arch Pediatr Adolesc Med 1994 Jun;148(6):632-7.

Tambor ES, Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Holtzman NA. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet 1994 Oct;55(4):626-37.

ten Kate LP. Carrier screening for cystic fibrosis and other autosomal recessive diseases [letter]. Am J Hum Genet 1990 Aug;47(2):359-61. Published erratum appears in Am J Hum Genet 1991 Jan;48(1):176.

ten Kate LP. Carrier screening in CF [letter]. Nature 1989 Nov 9;342(6246):131. Comment on: Nature 1989 Sep 14;341(6238):102-3. Comments in: Nature 1990 Feb 15;343(6259):586; Nature 1990 Mar 8;344(6262):113-4.

Ten Kate LP, Tijmstra T. Carrier screening for cystic fibrosis [letter]. Lancet 1989 Oct 21;2(8669):973-4. Comments in: Lancet 1989 Dec 9;2(8676):1403-4; Lancet 1990 Apr 7;335(8693):856.

ten Kate LP, Tijmstra T. Carrier screening for Tay-Sachs disease and cystic fibrosis [letter]. Lancet 1990 Jun 23;335(8704):1527-8. Comment on: Lancet 1990 Apr 7;335(8693):856. Comment in: Lancet 1990 Jul 21;336(8708):191.

Ten Kate LP, Tijmstra T. Community attitudes to cystic fibrosis carrier screening [letter]. Prenat Diagn 1990 Apr;10(4):275-6. Comment on: Prenat Diagn 1989 Oct;9(10):727-34.

ten Kate LP, Verheij JB, Wildhagen MF, Hilderink HB, Kooij L, Verzijl JG, Habbema JD. Comparison of single-entry and double-entry two-step couple screening for cystic fibrosis carriers. Hum Hered 1996 Jan-Feb;46(1):20-5.

Thornton JG, Blakeman JM, Costain K, Hester SA, Thomas M, Lilford RJ. Identification of the cystic fibrosis gene [letter]. BMJ 1990 Apr 28;300(6732):1141. Comment on: BMJ 1990 Mar 24;300(6727):812.

Turner G, Meagher W, Willis C, Colley P. Cascade testing for carrier status in cystic fibrosis in a large family. Med J Aust 1993 Aug 2;159(3):163-5. Comment in: Med J Aust 1993 Aug 2;159(3):148-50.

Vassart G, Cochaux P, Abramowicz M. CF screening [letter]. Nature 1990 Feb 15;343(6259):586. Comment on: Nature 1989 Nov 9;342(6246):131.

Wake SA, Rogers CJ, Colley PW, Hieatt EA, Jenner CF, Turner GM. Cystic fibrosis carrier screening in two New South Wales country towns. Med J Aust 1996 Apr 15;164(8):471-4.

Wald NJ. Couple screening for cystic fibrosis. Lancet 1991 Nov 23;338(8778):1318-9. Comments in: Lancet 1991 Dec 14;338(8781):1524-5; Lancet 1993 Nov 20;342(8882):1307-8.

Wald NJ, George L, Wald N, MacKenzie IZ. Further observations in connection with couple screening for cystic fibrosis [letter]. Prenat Diagn 1995 Jun;15(6):589-90.

Watson E, Williamson B, Brueton L, Winter R. Genetic counselling for cystic fibrosis based upon mutation/haplotype analysis [letter]. Lancet 1990 Jul 21;336(8708):190-1.

Watson EK, Mayall E, Chapple J, Dalziel M, Harrington K, Williams C, Williamson R. Screening for carriers of cystic fibrosis through primary health care services. BMJ 1991 Aug 31;303(6801):504-7.

Watson EK, Mayall ES, Lamb J, Chapple J, Williamson R. Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet 1992 Jul 25;340(8813):217-20. Comment in: Lancet 1992 Jul 25;340(8813):209-10.

Watson EK, Williamson R, Chapple J. Attitudes to carrier screening for cystic fibrosis: a survey of health care professionals, relatives of sufferers and other members of the public. Br J Gen Pract 1991 Jun;41(347):237-40.

Wertz DC, Fletcher JC. An international survey of attitudes of medical geneticists toward mass screening and access to results. Public Health Rep 1989 Jan-Feb;104(1):35-44.

Wilfond BS, Fost N. The cystic fibrosis gene: medical and social implications for heterozygote detection. JAMA 1990 May 23-30;263(20):2777-83. Comment in: JAMA 1990 Dec 12;264(22):2867-8.

Williams JK. Genetics and cystic fibrosis: a focus on carrier testing. Pediatr Nurs 1995 Sep-Oct;21(5):444-8.

Williamson R. Universal community carrier screening for cystic fibrosis? Nat Genet 1993 Mar;3(3):195-201.

Williamson R, Allison ME, Bentley TJ, Lim SM, Watson E, Chapple J, Adam S, Boulton M. Community attitudes to cystic fibrosis carrier testing in England: a pilot study. Prenat Diagn 1989 Oct;9(10):727-34. Comment in: Prenat Diagn 1990 Apr;10(4):275-6.< /P> Return to table of contents

PREIMPLANTATION SCREENING FOR CYSTIC FIBROSIS

Ao A, Handyside A, Winston RM. Preimplantation genetic diagnosis of cystic fibrosis (delta F508). Eur J Obstet Gynecol Reprod Biol 1996 Mar;65(1):7-10.

Ao A, Ray P, Harper J, Lesko J, Paraschos T, Atkinson G, Soussis I, Taylor D, Handyside A, Hughes M, Winston RM. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508). Prenat Diagn 1996 Feb;16(2):137-42.

Avner R, Laufer N, Safran A, Kerem BS, Friedmann A, Mitrani-Rosenbaum S. Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations. Hum Reprod 1994 Sep;9(9):1676-80.

Callahan CW, Person DA. Preimplantation diagnosis of the cystic fibrosis delta F508 mutation: what of the other two embryos? [letter]. JAMA 1995 Jul 12;274(2):126-7. Comment on: JAMA 1994 Dec 21;272(23):1858-60.

Cui KH, Haan EA, Wang LJ, Matthews CD. Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (delta F508). BMJ 1995 Aug 26;311(7004):536-40. Comment in: BMJ 1995 Aug 26;311(7004):540.

Findlay I, Quirke P, Hall J, Rutherford A. Fluorescent PCR: a new technique for PGD of sex and single-gene defects. J Assist Reprod Genet 1996 Feb;13(2):96-103.

Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod 1995 Jun;10(6):1609-18.

Findlay I, Urquhart A, Quirke P, Sullivan K, Rutherford AJ, Lilford RJ. Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Hum Reprod 1995 Apr;10(4):1005-13.

Handyside AH, Lesko JG, Tarin JJ, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 1992 Sep 24;327(13):905-9. Comment in: N Engl J Med 1992 Sep 24;327(1 3):951-3.

Liu J, Lissens W, Devroey P, Liebaers I, Van Steirteghem AC. Efficiency of polymerase chain reaction assay for cystic fibrosis in single human blastomeres according to the presence or absence of nuclei. Fertil Steril 1993 Apr;59(4):815-9.

Liu J, Lissens W, Devroey P, Van Steirteghem A, Liebaers I. Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell. Lancet 1992 May 16;339(8803):1190-2.

Liu J, Lissens W, Devroey P, Van Steirteghem A, Liebaers I. Polymerase chain reaction analysis of the cystic fibrosis delta F508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier. Prenat Diagn 1993 Sep;13(9):873- 80.

Liu J, Lissens W, Silber SJ, Devroey P, Liebaers I, Van Steirteghem A. Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with e pididymal sperm. JAMA 1994 Dec 21;272(23):1858-60. Comment in: JAMA 1995 Jul 12;274(2):126-7.

Raeburn JA. Commentary: Preimplantation diagnosis raises a philosophical dilemma. BMJ 1995 Aug 26;311(7004):540. Comment on: BMJ 1995 Aug 26;311(7004):536-40.

Ray PF, Winston RM, Handyside AH. Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis. J Assist Reprod Genet 1996 Feb;13(2):104-6.

Rechitsky S, Freidine M, Verlinsky Y, Strom CM. Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling). J Assist Reprod Genet 1996 Feb;13(2):115-24.

Schlegel PN, Cohen J, Goldstein M, Alikani M, Adler A, Gilbert BR, Palermo GD, Rosenwaks Z. Cystic fibrosis gene mutations do not affect sperm function during in vitro fertilization with micromanipulation for men with bilateral congenital absence of va s deferens. Fertil Steril 1995 Aug;64(2):421-6.

Simpson JL, Carson SA. Preimplantation genetic diagnosis [editorial]. N Engl J Med 1992 Sep 24;327(13):951-3. Comment on: N Engl J Med 1992 Sep 24;327(13):905-9. Published erratum appears in N Engl J Med 1992 Nov 26;327(22):1612.

Snabes MC, Chong SS, Subramanian SB, Kristjansson K, DiSepio D, Hughes MR. Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification. Proc Natl Acad Sci U S A 1994 Jun 21;91(13):6181-5.

Strom CM, Rechitsky S, Wolf G, Verlinsky Y. Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis. J Assist Reprod Genet 1994 Feb;11(2):55-62.

Strom CM, Verlinsky Y, Milayeva S, Evsikov S, Cieslak J, Lifchez A, Valle J, Moise J, Ginsberg N, Applebaum M. Preconception genetic diagnosis of cystic fibrosis [letter]. Lancet 1990 Aug 4;336(8710):306-7.

Verlinsky Y, Rechitsky S, Evsikov S, White M, Cieslak J, Lifchez A, Valle J, Moise J, Strom CM. Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn 1992 Feb;12(2):103-10.

Williams C, Davies D, Williamson R. Segregation of delta F508 and normal CFTR alleles in human sperm. Hum Mol Genet 1993 Apr;2(4):445-8.

Wu R, Cuppens H, Buyse I, Decorte R, Marynen P, Gordts S, Cassiman JJ. Co-amplification of the cystic fibrosis delta F508 mutation with the HLA DQA1 sequence in single cell PCR: implications for improved assessment of polar bodies and blastomeres in pr eimplantation diagnosis. Prenat Diagn 1993 Dec;13(12):1111-22.

PRENATAL SCREENING FOR CYSTIC FIBROSIS

Bick D, Maddalena A, Black SH, Headrick EG, Cummings E, Jones SL, Costakos D, Becker R, Schulman JD. Prenatal screening for delta F508 mutation in population not selected for cystic fibrosis [letter]. Lancet 1990 Nov 24;336(8726):1324-5.

Black SH, Bick DP, Maddalena A, Schulman JD, Jones SL, Fallon L, Cummings E, Menapace-Drew G. Pregnancy screening for cystic fibrosis [letter]. Lancet 1993 Oct 30;342(8879):1112-3. Comments on: Lancet 1993 Sep 4;342(8871):569-70; Lancet 1993 Sep 4;342 (8871):624.

Bolodar A, Horvath K, Nemeti M, Papp Z. First trimester chorionic villus sampling for DNA analysis. Acta Univ Carol [Med] (Praha) 1990;36(1-4):129-31.

Borgo G, Fabiano T, Perobelli S, Mastella G. Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A cohort study. Prenat Diagn 1992 Oct;12(10):821-30.

Boue J, Muller F, Simon-Bouy B, Faure C, Boue A. Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children. Prenat Diagn 1991 Apr;11(4):209-14.

Brambati B, Anelli MC, Tului L. Prenatal cystic fibrosis screening in a low-risk population undergoing chorionic villus sampling for fetal karyotyping. Clin Genet 1996 Jul;50(1):23-7.

Brambati B, Tului L, Fattore S, Ferec C. First-trimester fetal screening of cystic fibrosis in low-risk population [letter]. Lancet 1993 Sep 4;342(8871):624.

Brock D. Approaches to prenatal cystic fibrosis carrier screening [letter]. J Med Genet 1993 Jul;30(7):621. Comment on: J Med Genet 1993 Jan;30(1):86.

Brock DJ. Prenatal screening for cystic fibrosis: 5 years' experience reviewed. Lancet 1996 Jan 20;347(8995):148-50. Comment in: Lancet 1996 Apr 6;347(9006):969.

Brock DJ. Screening for cystic fibrosis. Antenatal testing has higher yield [letter]. BMJ 1994 Jul 30;309(6950):339-40. Comment on: BMJ 1994 Jun 4;308(6942):1462-7.

Brock DJ, Shrimpton AE. Non-paternity and prenatal genetic screening [letter]. Lancet 1991 Nov 2;338(8775):1151. Comment on: Lancet 1991 Oct 5;338(8771):869-71.

Brock DJ, Shrimpton AE, Jones C, McIntosh I. Cystic fibrosis: the new genetics. J R Soc Med 1991;84 Suppl 18:2-6.

Cairns J, Shackley P, Hundley V. Decision making with respect to diagnostic testing: a method of valuing the benefits of antenatal screening. Med Decis Making 1996 Apr-Jun;16(2):161-8.

Carey WF, Nelson PV, Raymond S, Morris CP. Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation. Prenat Diagn 1990 Sep;10(9):613-6.

Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X. Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. Prenat Diagn 1996 Mar;16(3):215-22.

Christian CL. Prenatal diagnosis of cystic fibrosis. Clin Perinatol 1990 Dec;17(4):779-91.

Clausen H, Brandt NJ, Schwartz M, Skovby F. Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman--a pilot study. Clin Genet 1996 Apr;49(4):200-5.

Clausen H, Brandt NJ, Schwartz M, Skovby F. Psychological impact of carrier screening for cystic fibrosis among pregnant women. Eur J Hum Genet 1996;4(2):120-3.

Cuckle H, Quirke P, Sehmi I, Lewis F, Murray J, Cross D, Cuckle P, Ozols B. Antenatal screening for cystic fibrosis. Br J Obstet Gynaecol 1996 Aug;103(8):795-9.

Dahl N, Kollberg H. Prenatal prediction of cystic fibrosis in a mother homozygous for the delta F508 mutation [letter]. Clin Genet 1992 Oct;42(4):214-5.

Damjanovich L, Szeifert GT, Szabo M, Papp Z. Pathological confirmation of foetal cystic fibrosis following prenatal diagnosis. Acta Morphol Hung 1990;38(2):141-8.

de Braekeleer M. Prenatal screening for carriers of cystic fibrosis should screen both partners individually [letter]. BMJ 1996 Sep 28;313(7060):820.

Desgeorges M, Boulot P, Kjellberg P, Lefort G, Rolland M, Demaille J, Claustres M. Prenatal diagnosis for cystic fibrosis using SSCP analysis [letter]. Prenat Diagn 1993 Feb;13(2):147-8.

Doherty RA, Bradley LA, Haddow JE. Cost effectiveness of antenatal screening for cystic fibrosis. Couple screening would be easier for many centres [letter]. BMJ 1996 Apr 6;312(7035):909; discussion 910. Comment on: BMJ 1995 Dec 2;311(7018):1460-3; di scussion 1463-4.

Doherty RA, Palomaki GE, Kloza EM, Erickson JL, Dostal DA, Haddow JE. Prenatal screening for cystic fibrosis [letter]. Lancet 1994 Jan 15;343(8890):172.

Doherty RA, Palomaki GE, Kloza EM, Erickson JL, Haddow JE. Couple-based prenatal screening for cystic fibrosis in primary care settings. Prenat Diagn 1996 May;16(5):397-404.

Donaldson C, Shackley P, Abdalla M, Miedzybrodzka Z. Willingness to pay for antenatal carrier screening for cystic fibrosis. Health Econ 1995 Nov-Dec;4(6):439-52.

Dufourcq R, Vuillaumier S, Pascaud O, Guidal C, Oury JF, Elion J, Denamur E. Compound heterozygosity for delta F508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis [letter]. Prenat Diagn 1994 Dec;14(12):1176-7.

Estivill X, Casals T, Nunes V. Genetic analysis of cystic fibrosis. Adv Exp Med Biol 1991;290:31-8.

Ferec C, Verlingue C, Audrezet MP, Guillermit H, Quere I, Raguenes O, Mercier B. Prenatal diagnosis of cystic fibrosis in different European populations: application of denaturing gradient gel electrophoresis. Fetal Diagn Ther 1993 Sep-Oct;8(5):341-50.

Findlay I, Cuckle H, Lilford RJ, Rutherford AJ, Quirke P, Lui S. Screening sperm donors for cystic fibrosis [letter]. BMJ 1995 Jun 10;310(6993):1533.

Firth HV, Lindenbaum RH. UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. J Med Genet 1992 Jan;29(1):20-3.

Fugger EF, Maddalena A, Schulman JD. Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction. Hum Reprod 1993 Sep;8(9):1435-7.

Geddes DM. Cystic fibrosis and pregnancy. J R Soc Med 1992;85 Suppl 19:36-7.

Hall MH, Miedzybrodzka ZH, Haites NE, Dean JC. Cystic fibrosis screening policies [letter]. Lancet 1996 Apr 6;347(9006):969. Comment on: Lancet 1996 Jan 20;347(8995):148-50.

Halley DJ, van Damme NH, Deelen WH, Oostra BA, Jahoda MG, Sachs ES, Los FJ, Niermeijer MF. Prenatal detection of major cystic fibrosis mutation [letter]. Lancet 1989 Oct 21;2(8669):972.

Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R. Cystic fibrosis carrier testing in early pregnancy by general practitioners. BMJ 1993 Jun 12;306(6892):1580-3. Comment in: BMJ 1993 Jun 12;306(6892):1558-9.

Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R. Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice. Br J Gen Pract 1996 Apr;46(405):225-7.

Harris HJ, Scotcher D, Craufurd D, Wallace A, Harris R. Cystic fibrosis carrier screening at first diagnosis of pregnancy in general practice [letter]. Lancet 1992 Jun 20;339(8808):1539.

Hilman BC, Aitken ML, Constantinescu M. Pregnancy in patients with cystic fibrosis. Clin Obstet Gynecol 1996 Mar;39(1):70-86.

Hitzeroth HW, Petersen EM, Herbert J, Denter M. Preventing cystic fibrosis in the RSA. S Afr Med J 1991 Jul 20;80(2):92-8.

Hogge WA, Hogge JS, Boehm CD, Sanders RC. Increased echogenicity in the fetal abdomen: use of DNA analysis to establish a diagnosis of cystic fibrosis. J Ultrasound Med 1993 Aug;12(8):451-4.

Janes SR, Rosenfield JM, Wertz DC, Erbe RW. DNA diagnosis of cystic fibrosis: utilization of genetic counseling. Birth Defects 1990;26(3):254-7.

Jedlicka-Kohler I, Gotz M, Eichler I. Utilization of prenatal diagnosis for cystic fibrosis over the past seven years. Pediatrics 1994 Jul;94(1):13-6.

Jorgensen FS, Bang J, Tranebjaerg L, Berge LN, Eik-Nes SH, Schwartz M. Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination. Prenat Diagn 1994 Feb;14(2):149-52.

Jung U, Urner U, Grade K, Coutelle C. Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population. Hum Genet 1994 Jul;94(1):19-24. Comment in: Hum Genet 1994 Jul;94(1):25-7; discussion 28-30.

Kotloff RM, FitzSimmons SC, Fiel SB. Fertility and pregnancy in patients with cystic fibrosis. Clin Chest Med 1992 Dec;13(4):623-35.

Kuliev AM, Modell B. Problems in the control of genetic disorders. Biomed Sci 1990 Jan;1(1):3-17.

Le Bris MJ, Giovangrandi Y, Audrezet MP, Journel H, Ferec C. Confined placental trisomy 7: pitfall for cystic fibrosis prenatal diagnosis [letter]. Lancet 1994 Aug 20;344(8921):556.

Le Moyec L, Muller F, Eugene M, Spraul M. Proton magnetic resonance spectroscopy of human amniotic fluids sampled at 17-18 weeks of pregnancy in cases of decreased digestive enzyme activities and detected cystic fibrosis. Clin Biochem 1994 Dec;27(6):47 5-83.

Lindeman R, Wallace R, Volpato F, Hu SP, Trent RJ. Utility of the polymerase chain reaction (PCR) for prenatal diagnosis of genetic disease. Pathology 1991 Apr;23(2):158-63.

Livingstone J, Axton RA, Gilfillan A, Mennie M, Compton M, Liston WA, Calder AA, Gordon AJ, Brock DJ. Antenatal screening for cystic fibrosis: a trial of the couple model. BMJ 1994 Jun 4;308(6942):1459-62. Comments in: BMJ 1994 Jun 4;308(6942):1451-2; BMJ 1994 Jul 30;309(6950):339; BMJ 1994 Jul 30;309(6950):340.

Livingstone J, Axton RA, Mennie M, Gilfillan A, Brock DJ. A preliminary trial of couple screening for cystic fibrosis: designing an appropriate information leaflet. Clin Genet 1993 Feb;43(2):57-62.

Macek M, Tomasova H, Boue J, Kleijer WJ, Sedlacek Z, Hronkova J, Vavrova V, Jelinkova E, Kulovany E, Benesova D, et al. The experience with the foetal diagnosis of the cystic fibrosis in the second and first trimester. Acta Univ Carol [Med] (Praha) 199 0;36(1-4):120-8.

Macintyre S, Sooman A. Non-paternity and prenatal genetic screening. Lancet 1991 Oct 5;338(8771):869-71. Comment in: Lancet 1991 Nov 2;338(8775):1151.

McIntosh I, Raeburn JA, Curtis A, Brock DJ. First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing [letter]. Lancet 1989 Oct 21;2(8669):972-3.

Mennie M, Compton M, Gilfillan A, Axton RA, Liston WA, Pullen I, Whyte D, Brock DJ. Prenatal screening for cystic fibrosis: attitudes and responses of participants. Clin Genet 1993 Aug;44(2):102-6.

Mennie ME, Compton ME, Gilfillan A, Liston WA, Pullen I, Whyte DA, Brock DJ. Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners. J Med Genet 1993 Jul;30(7):543-8.

Mennie ME, Gilfillan A, Compton M, Curtis L, Liston WA, Pullen I, Whyte DA, Brock DJ. Prenatal screening for cystic fibrosis. Lancet 1992 Jul 25;340(8813):214-6. Comment in: Lancet 1992 Jul 25;340(8813):209-10.

Mennie ME, Gilfillan A, Compton ME, Liston WA, Brock DJ. Prenatal cystic fibrosis carrier screening: factors in a woman's decision to decline testing. Prenat Diagn 1993 Sep;13(9):807-14.

Mennie ME, Liston WA, Brock DJ. Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population. J Med Genet 1992 May;29(5):308-12.

Metz O. Sex of children born to women with cystic fibrosis [letter]. Lancet 1992 Mar 21;339(8795):739-40. Comments in: Lancet 1992 Apr 18;339(8799):990; Lancet 1992 May 23;339(8804):1300.

Miedzybrodzka Z, Haites N, Dean J. A new approach to prenatal cystic fibrosis carrier screening [letter]. J Med Genet 1993 Jan;30(1):86. Comment in: J Med Genet 1993 Jul;30(7):621.

Miedzybrodzka Z, Semper J, Shackley P, Abdalla M, Donaldson C. Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay. J Med Genet 1995 Apr;32(4):282-3.

Miedzybrodzka ZH, Hall MH, Mollison J, Templeton A, Russell IT, Dean JC, Kelly KF, Marteau TM, Haites NE. Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening. BMJ 1995 Feb 11;310(6976):353-7. Comment in : BMJ 1995 May 6;310(6988):1199.

Miedzybrodzka ZH, Kelly KF, Davidson M, Little S, Shrimpton AE, Dean JC, Haites NE. Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms. Prenat Diagn 1992 Oct;12(10):845-9.

Nemeti M, Papp Z. First trimester diagnosis of cystic fibrosis with linked DNA probes. Acta Univ Carol [Med] (Praha) 1990;36(1-4):135-8.

Nugent CE. Cystic fibrosis, genetics, and DNA technology. Curr Opin Obstet Gynecol 1991 Apr;3(2):235-41.

Nunes V, Gaona A, Chillon M, Mana P, Casals T, Cutting G, Estivill X. Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations [letter]. Prenat Diagn 1991 Aug;11(8):671-2.

Rossiter JP, Johnson TR. Management of genetic disorders during pregnancy. Obstet Gynecol Clin North Am 1992 Dec;19(4):801-13.

Schwartz M, Brandt NJ, Skovby F. Screening for carriers of cystic fibrosis among pregnant women: a pilot study. Eur J Hum Genet 1993;1(3):239-44.

Screening for cystic fibrosis [editorial]. Lancet 1992 Jul 25;340(8813):209-10. Comments on: Lancet 1992 Jul 25;340(8813):214-6; Lancet 1992 Jul 25;340(8813):217-20. Comment in: Lancet 1992 Aug 22;340(8817):490-1.

Screening for cystic fibrosis [letter]. Lancet 1991 Dec 14;338(8781):1524-5. Comment on: Lancet 1991 Nov 23;338(8778):1318-9.

Seia M, Cozzi G, Sereni L, Ferrari M, Cremonesi L, Covone AE, Fenu L, Ronchetto P, Devoto M, Romeo G. DNA technology for prenatal diagnosis of cystic fibrosis in Italy. Adv Exp Med Biol 1991;290:399-401.

Sepulveda W, Leung KY, Robertson ME, Kay E, Mayall ES, Fisk NM. Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel. Obstet Gynecol 1996 Jan;87(1):103-6.

Simpson JL. Screening for fetal and genetic abnormalities. Baillieres Clin Obstet Gynaecol 1991 Sep;5(3):675-96.

Super M. Who should be offered genetic screening? Postgrad Med J 1993 Sep;69(815):669-71.

Super M, Haworth A, Schwarz MJ. Active cascade cystic fibrosis screening [letter]. Prenat Diagn 1995 Nov;15(11):1082-3. Comment on: Prenat Diagn 1994 Dec;14(13):1243-52.

Super M, Schwarz MJ, Malone G, Roberts T, Haworth A, Dermody G. Screening for cystic fibrosis. Should begin with cascade screening [letter]. BMJ 1994 Oct 1;309(6958):877-8. Comment on: BMJ 1994 Jun 4;308(6942):1468.

Szibor R, Bruckner R, Gedschold J, Weise W, Gola H, Rose I, Grade K, Speer A, Coutelle C, Bollmann R, et al. Prenatal diagnosis of cystic fibrosis in first and second trimenon (GDR report). Acta Univ Carol [Med] (Praha) 1990;36(1-4):117-9.

Trezise AE, Chambers JA, Wardle CJ, Gould S, Harris A. Expression of the cystic fibrosis gene in human foetal tissues. Hum Mol Genet 1993 Mar;2(3):213-8.

Turner G, Wilcken B, Griffiths H. Cystic fibrosis screening and community genetics [letter]. J Med Genet 1991 Aug;28(8):575. Comment on: J Med Genet 1990 Aug;27(8):475-9.

Vines G. Gene tests: the parents' dilemma. New Sci 1994 Nov 12;144(1951):40-4.

Wald NJ, Brock DJ, Haddow JE, Doherty RA. Antenatal screening for cystic fibrosis [letter]. BMJ 1995 May 6;310(6988):1199. Comment on: BMJ 1995 Feb 11;310(6976):353-7.

Wald NJ, George LM, Wald NM, Mackenzie I. Couple screening for cystic fibrosis [letter]. Lancet 1993 Nov 20;342(8882):1307-8. Comment on: Lancet 1991 Nov 23;338(8778):1318-9.

Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R. Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet 1996 Apr;58(4):823-35.

Yilmaz E, Ozguc M, Coskun T, Beksac S, Cakar N, Ayter S, Ozalp I. Prenatal diagnosis of cystic fibrosis in a Turkish family. Turk J Pediatr 1991 Apr-Jun;33(2):79-84.

Young ID. Pregnancy screening for cystic fibrosis. Lancet 1993 Sep 4;342(8871):569-70. Comment on: Lancet 1993 Sep 4;342(8871):624. Comment in: Lancet 1993 Oct 30;342(8879):1112-3.

NEONATAL SCREENING FOR CYSTIC FIBROSIS

Abman SH, Ogle JW, Harbeck RJ, Butler-Simon N, Hammond KB, Accurso FJ. Early bacteriologic, immunologic, and clinical courses of young infants with cystic fibrosis identified by neonatal screening. J Pediatr 1991 Aug;119(2):211-7.

Accurso FJ, Sokol RJ, Hammond KB, Abman SH. Early respiratory course in infants with cystic fibrosis: relevance to newborn screening. Pediatr Pulmonol Suppl 1991;7:42-5.

al-Jader LN, Goodchild MC, Ryley HC, Harper PS. Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis. Adv Exp Med Biol 1991;290:347-8.

al-Jader LN, Goodchild MC, Ryley HC, Harper PS. Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis. Clin Genet 1990 Dec;38(6):460-5.

Allen DB, Farrell PM. Newborn screening: principles and practice. Adv Pediatr 1996;43:231-70.

Allen JL, Stavis R, Kaplan GS, Naylor EW. Diagnosis of cystic fibrosis in a premature infant via neonatal screening [letter]. Arch Pediatr Adolesc Med 1994 Sep;148(9):995-6. Comment on: Am J Dis Child 1993 Nov;147(11):1190-5.

Balnaves ME, Bonacquisto L, Francis I, Glazner J, Forrest S. The impact of newborn screening on cystic fibrosis testing in Victoria, Australia. J Med Genet 1995 Jul;32(7):537-42.

Boland C, Thompson NL. Effects of newborn screening of cystic fibrosis on reported maternal behaviour. Arch Dis Child 1990 Nov;65(11):1240-4.

Bowling FG, McGill JJ, Shepherd RW, Danks DM. Screening for cystic fibrosis: use of delta F508 mutation [letter]. Lancet 1990 Apr 14;335(8694):925-6.

Bronstein MN, Sokol RJ, Abman SH, Chatfield BA, Hammond KB, Hambidge KM, Stall CD, Accurso FJ. Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis. J Pediatr 1992 Apr;120(4 Pt 1):533-40.< /P>

Chatfield S, Owen G, Ryley H, Goodchild M, Weller P. Does early detection lead to an improved prognosis in cystic fibrosis neonates? Acta Univ Carol [Med] (Praha) 1990;36(1-4):96-8.

Chatfield S, Owen G, Ryley HC, Williams J, Alfaham M, Goodchild MC, Weller P. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child 1991 Jan;66(1 Spec No):29-33.

Coles EC, Dodge JA, Morison S. Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history [letter]. Arch Dis Child 1993 Oct;69(4):470. Comment on: Arch Dis Child 1993 Apr;68(4):464-7. Comment in: Arch Dis Child 1 994 Mar;70(3):252.

Dankert-Roelse JE, Knol K, ten Kate LP. Effects of neonatal screening for cystic fibrosis on reproduction, attitudes toward reproductive behaviour and genetic knowledge. Acta Univ Carol [Med] (Praha) 1990;36(1-4):99-101.

Dankert-Roelse JE, te Meerman GJ. Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre. Thorax 1995 Jul;50(7):712-8. Comment in: Thorax 1995 Jul;50(7):705-6 .

Dankert-Roelse JE, te Meerman GJ, Martijn A, ten Kate LP, Knol K. Survival and clinical outcome in patients with cystic fibrosis, with or without neonatal screening. J Pediatr 1989 Mar;114(3):362-7.

Dodge JA. Screening for cystic fibrosis: why, how, and when? [editorial]. Pediatr Pulmonol Suppl 1991;7:5-6.

Elliott RB. Newborn screening for cystic fibrosis: a historical perspective. Pediatr Pulmonol Suppl 1991;7:7-10.

Faraguna D, Giglio L, D'Orazio C, Pederzini F, de Vonderweid U, Mastella G. Is clinical status at diagnosis a prognostic factor in CF infants identified by neonatal screening? Pediatr Pulmonol Suppl 1991;7:46-51.

Farrell PM, Aronson RA, Hoffman G, Laessig RH. Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing. Wis Med J 1994 Aug;93(8):415-21.

Farrell PM, Mischler EH. Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group. Adv Pediatr 1992;39:35-70.

Farrell PM, Mischler EH, Fost NC, Wilfond BS, Tluczek A, Gregg RG, Bruns WT, Hassemer DJ, Laessig RH. Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery. Pediatr Pulmonol Suppl 1991;7:11-8.

Ferec C, Verlingue C, Parent P, Morin JF, Codet JP, Rault G, Dagorne M, Lemoigne A, Journel H, Roussey M, et al. Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation ana lyses. Hum Genet 1995 Nov;96(5):542-8.

Fitzgerald D, Van Asperen P, Henry R, Waters D, Freelander M, Wilson M, Wilcken B, Gaskin K. Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H). J Paediatr Child Health 1995 Jun;31(3):168-71.

Francis I. Newborn screening in Australia and New Zealand 1984-1990. Human Genetics Society of Australasia/Australian College of Paediatrics Committee on Newborn Metabolic Screening. Med J Aust 1991 Dec 2-16;155(11-12):821-3.

Gaskin K, Waters D, Dorney S, Gruca M, O'Halloran M, Wilcken B. Assessment of pancreatic function in screened infants with cystic fibrosis. Pediatr Pulmonol Suppl 1991;7:69-71.

Green MR, Weaver LT. Early and late outcome of cystic fibrosis screening. J R Soc Med 1994;87 Suppl 21:5-10.

Green MR, Weaver LT, Heeley AF. Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history [letter]. Arch Dis Child 1994 Mar;70(3):252. Comment on: Arch Dis Child 1993 Oct;69(4):470.

Green MR, Weaver LT, Heeley AF, Nicholson K, Kuzemko JA, Barton DE, McMahon R, Payne SJ, Austin S, Yates JR, et al. Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history. Arch Dis Child 1993 Apr;68(4):464-7. Comment in: Arch Dis Child 1993 Oct;69(4):470.

Helton JL, Harmon RJ, Robinson N, Accurso FJ. Parental attitudes toward newborn screening for cystic fibrosis. Pediatr Pulmonol Suppl 1991;7:23-8.

Henry RL, Boulton TJ, Roddick LG. False negative results on newborn screening for cystic fibrosis. J Paediatr Child Health 1990 Jun;26(3):150-1.

Holtzman NA. What drives neonatal screening programs? [editorial]. N Engl J Med 1991 Sep 12;325(11):802-4. Comment on: N Engl J Med 1991 Sep 21;325(11):769-74. Comment in: N Engl J Med 1992 Feb 13;326(7):494-5.

Laroche D, Travert G. Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia [letter]. Lancet 1991 Jan 5;337(8732):55. Comment on: Lancet 1990 Jun 2;335(8701):1340.

Larsen J, Campbell S, Faragher EB, Gotz M, Eichler I, Waldherr S, Dobianer K, Spona J. Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation. Eur J Pediatr 1994 Aug;153(8):569- 73.

Lindner R. What drives neonatal screening programs? [letter]. N Engl J Med 1992 Feb 13;326(7):494-5. Comment on: N Engl J Med 1991 Sep 12;325(11):802-4.

Lyon IC, Webster DR. Newborn screening for cystic fibrosis [letter]. Pediatrics 1991 Jun;87(6):954-6. Comment on: Pediatrics 1990 Jun;85(6):1001-7.

Macek M Jr, Macek M, Stuhrmann M, Kulovany E, Dolanska M, Koukolik F, Boehm I, Hronkova J, Jezkova Z, Paulova M, et al. The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy. Clin Genet 1991 Mar;39(3):219-22.

Marcus MS, Sondel SA, Farrell PM, Laxova A, Carey PM, Langhough R, Mischler EH. Nutritional status of infants with cystic fibrosis associated with early diagnosis and intervention. Am J Clin Nutr 1991 Sep;54(3):578-85. Comment in: Am J Clin Nutr 1992 Nov;56(5):955-7.

Mischler E, Farrell P, Bruns T, Rock M, Tluczek A, Colby H, McCarthy C, Hassemer D, Laessig R, Fost N. Neonatal screening for cystic fibrosis in Wisconsin. Wis Med J 1989 Mar;88(3):14-8.

Mischler EH, Marcus MS, Sondel SA, Laxova A, Carey P, Langhough R, Farrell PM. Nutritional assessment of infants with cystic fibrosis diagnosed through screening. Pediatr Pulmonol Suppl 1991;7:56-63.

Modell B. Biochemical neonatal screening. BMJ 1990 Jun 30;300(6741):1667-8.

Nazer H, Rahbeeni Z. Cystic fibrosis and the liver--a Saudi experience. Ann Trop Paediatr 1994;14(3):189-94.

Newborn screening for cystic fibrosis. Proceedings from IVth International Conference, October 8-9, 1990, Colorado, USA. Pediatr Pulmonol Suppl 1991;7:1-92.

Pederzini F, D'Orazio C, Tamiazzo G, Faraguna D, Giglio L, Mastella G. Growth evaluation at one year of life in infants with cystic fibrosis diagnosed by neonatal screening. Pediatr Pulmonol Suppl 1991;7:64-8.

Periodic health examination, 1991 update: 4. Screening for cystic fibrosis. Canadian Task Force on the Periodic Health Examination. Can Med Assoc J 1991 Sep 15;145(6):629-35.

Phelan PD. Neonatal screening for cystic fibrosis [editorial]. Thorax 1995 Jul;50(7):705-6. Comment on: Thorax 1995 Jul;50(7):712-8.

Ryley HC, Goodchild MC, Dodge JA. Screening for cystic fibrosis. Br Med Bull 1992 Oct;48(4):805-22.

Sokol RJ, Reardon MC, Accurso FJ, Stall C, Narkewicz MR, Abman SH, Hammond KB. Fat-soluble vitamins in infants identified by cystic fibrosis newborn screening. Pediatr Pulmonol Suppl 1991;7:52-5.

Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW. Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Metab Biol 1993 Apr;49(2):200-11.

Statham H, Green J, Snowdon C. Mothers' consent to screening newborn babies for disease [letter]. BMJ 1993 Mar 27;306(6881):858-9.

te Meerman GJ, Dankert-Roelse JE. Pros and cons of neonatal screening for cystic fibrosis. Adv Exp Med Biol 1991;290:83-92; discussion 92-5.

Tluczek A, Mischler EH, Bowers B, Peterson NM, Morris ME, Farrell PM, Bruns WT, Colby H, McCarthy C, Fost N, et al. Psychological impact of false-positive results when screening for cystic fibrosis. Pediatr Pulmonol Suppl 1991;7:29-37.

Tluczek A, Mischler EH, Farrell PM, Fost N, Peterson NM, Carey P, Bruns WT, McCarthy C. Parents' knowledge of neonatal screening and response to false-positive cystic fibrosis testing. J Dev Behav Pediatr 1992 Jun;13(3):181-6.

Veeze HJ. Diagnosis of cystic fibrosis. Neth J Med 1995 Jun;46(6):271-4.

Waters DL, Dorney SF, Gaskin KJ, Gruca MA, O'Halloran M, Wilcken B. Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. N Engl J Med 1990 Feb 1;322(5):303-8. Comment in: N Engl J Med 1990 Feb 1;322(5):3 28-9.

Weller PH, West JV. Neonatal screening--should we or shouldn't we? J R Soc Med 1991;84 Suppl 18:7-9.

Wilcken B, Wiley V, Sherry G, Bayliss U. Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 1995 Dec;127(6):965-70.

Wilfond BS, Farrell PM, Laxova A, Mischler E. Severe hemolytic anemia associated with vitamin E deficiency in infants with cystic fibrosis. Implications for neonatal screening. Clin Pediatr (Phila) 1994 Jan;33(1):2-7.

ECONOMICS OF CYSTIC FIBROSIS SCREENING AND TESTING

Anderson C. Roche cuts controversial PCR fees, testing limits [news]. Nature 1992 Jan 30;355(6359):379.

Brock DJ. Cost effectiveness of antenatal screening for cystic fibrosis. Realistic cost must be established for genetic counselling in two step screening [letter]. BMJ 1996 Apr 6;312(7035):908; discussion 910. Comment on: BMJ 1995 Dec 2;311(7018):1460 -3; discussion 1463-4.

Cairns JA, Shackley P. Assessing value for money in medical screening. J Med Screen 1994 Jan;1(1):39-44.

Cuckle HS, Richardson GA, Sheldon TA, Quirke P. Cost effectiveness of antenatal screening for cystic fibrosis. BMJ 1995 Dec 2;311(7018):1460-3; discussion 1463-4. Comments in: BMJ 1996 Apr 6;312(7035):908; discussion 910; BMJ 1996 Apr 6;312(7035):908- 9; discussion 910; BMJ 1996 Apr 6;312(7035):909; discussion 910; BMJ 1996 Apr 6;312(7035):909-10.

Donaldson C. Using economics to assess the place of screening. J Med Screen 1994 Apr;1(2):124-8; discussion 128-9.

Garber AM, Fenerty JP. Costs and benefits of prenatal screening for cystic fibrosis. Med Care 1991 May;29(5):473-89.

Ginsberg G, Blau H, Kerem E, Springer C, Kerem BS, Akstein E, Greenberg A, Kolumbos A, Abeliovich D, Gazit E, et al. Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population. Health Econ 1994 Jan-Feb;3(1):5-2 3.

Kent P. Cost effectiveness of antenatal screening for cystic fibrosis. Counselors do not have to be genetic nurse specialists [letter]. BMJ 1996 Apr 6;312(7035):908; discussion 910. Comment on: BMJ 1995 Dec 2;311(7018):1460-3; discussion 1463-4.

Lieu TA, Watson SE, Washington AE. The cost-effectiveness of prenatal carrier screening for cystic fibrosis. Obstet Gynecol 1994 Dec;84(6):903-12.

Miedzybrodzka Z, Shackley P, Donaldson C, Abdalla M. Counting the benefits of screening: a pilot study of willingness to pay for cystic fibrosis carrier screening. J Med Screen 1994 Apr;1(2):82-3.

Morris J. Cost effectiveness of antenatal screening for cystic fibrosis. Couple screening should be preferred for medical reasons [letter]. BMJ 1996 Apr 6;312(7035):908-9; discussion 910. Comment on: BMJ 1995 Dec 2;311(7018):1460-3; discussion 1463-4.

Morris JK, Oppenheimer PM. Cost comparison of different methods of screening for cystic fibrosis. J Med Screen 1995;2(1):22-7.

Thornton JG, Lilford RJ. Decision analysis for medical managers. BMJ 1995 Mar 25;310(6982):791-4.

Torgerson DJ. Cost effectiveness of antenatal screening for cystic fibrosis. Authors should have used marginal analysis [letter]. BMJ 1996 Apr 6;312(7035):909; discussion 910. Comment on: BMJ 1995 Dec 2;311(7018):1460-3; discussion 1463-4.

Walters S. Cost effectiveness of antenatal screening for cystic fibrosis. Study might be better described as a cost description of screening [letter]. BMJ 1996 Apr 6;312(7035):909-10. Comment on: BMJ 1995 Dec 2;311(7018):1460-3; discussion 1463-4.

ETHICAL, LEGAL, AND SOCIAL ISSUES OF CYSTIC FIBROSIS SCREENING AND TESTING

Asch DA, Hershey JC, Pauly MV, Patton JP, Jedrziewski MK, Mennuti MT. Genetic screening for reproductive planning: methodological and conceptual issues in policy analysis. Am J Public Health 1996 May;86(5):684-90.

Axworthy D, Brock DJ, Bobrow M, Marteau TM. Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet 1996 May 25;347(9013):1443-6. Comment in: Lancet 1996 May 25;3 47(9013):1421-2.

Bouchard L, Renaud M, Kremp O, Dallaire L. Selective abortion: a new moral order? Consensus and debate in the medical community. Int J Health Serv 1995;25(1):65-84.

Brock DJ, Scott M. Insurance and genetic testing [letter]. Lancet 1993 Feb 20;341(8843):495. Comment on: Lancet 1993 Jan 23;341(8839):224-7.

Charo RA. Legal and regulatory issues surrounding carrier testing. Clin Obstet Gynecol 1993 Sep;36(3):568-97.

Colten HR. Screening for cystic fibrosis; public policy and personal choices [editorial]. N Engl J Med 1990 Feb 1;322(5):328-9. Comments on: N Engl J Med 1990 Feb 1;322(5):291-6; N Engl J Med 1990 Feb 1;322(5):303-8.

De Braekeleer M, Melancon MJ. The ethics of cystic fibrosis carrier screening: where do we stand? [letter]. Am J Hum Genet 1990 Sep;47(3):580-1. Comment on: Am J Hum Genet 1990 Feb;46(2):393. Comment in: Am J Hum Genet 1991 Jun;48(6):1204-6.

de Braekeleer M, Murray F, Daigneault J, Allard C, Simard F, Aubin G. Disease knowledge and reproductive attitudes of parents having a child with cystic fibrosis. Ann Genet 1994;37(2):89-92.

Decruyenaere M, Evers-Kiebooms G, Denayer L, Van den Berghe H. Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clin Genet 1992 Apr;41(4):189-96.

Denayer L, Evers-Kiebooms G, De Boeck K, Van den Berghe H. Reproductive decision making of aunts and uncles of a child with cystic fibrosis: genetic risk perception and attitudes toward carrier identification and prenatal diagnosis. Am J Med Genet 199 2 Sep 1;44(1):104-11.

Fackelmann KA. DNA dilemmas: readers and 'experts' weigh in on biomedical ethics. Sci News 1994 Dec 17;146(25):408-10.

Fanos JH, Johnson JP. Perception of carrier status by cystic fibrosis siblings. Am J Hum Genet 1995 Aug;57(2):431-8.

Fost N. Genetic diagnosis and treatment: ethical considerations. Am J Dis Child 1993 Nov;147(11):1190-5.

Fost N, Farrell PM. A prospective randomized trial of early diagnosis and treatment of cystic fibrosis: a unique ethical dilemma. Clin Res 1989 Sep;37(3):495-500.

Fox JL, Van Brunt J. Towards understanding human genetic diseases. Biotechnology (N Y) 1990 Oct;8(10):903-4, 906, 909. Published erratum appears in Biotechnology (N Y) 1991 Feb;9(2):198.

Gates EA. Maternal choice: will it work both ways? Womens Health Issues 1990 Fall;1(1):25-7.

Geller G, Tambor ES, Bernhardt BA, Chase GA, Hofman KJ, Faden RR, Holtzman NA. Physicians' attitudes toward disclosure of genetic information to third parties. J Law Med Ethics 1993 Summer;21(2):238-40.

Geller G, Tambor ES, Chase GA, Hofman KJ, Faden RR, Holtzman NA. Incorporation of genetics in primary care practice: will physicians do the counseling and will they be directive? Arch Fam Med 1993 Nov;2(11):1119-25.

Geller G, Tambor ES, Papiernik E. Attitudes toward abortion for fetal anomaly in the second vs. the third trimester: a survey of Parisian obstetricians. Prenat Diagn 1993 Aug;13(8):707-22.

Holtzman NA. Benefits and risks of emerging genetic technologies: the need for regulation. Clin Chem 1994 Aug;40(8):1652-7.

Hook EB. Muddling genetic discrimination [letter]. Am J Hum Genet 1992 Oct;51(4):899-901.

Joyce C. Your genome in their hands. New Sci 1990 Aug 11;127(1729):52-5.

Juengst ET, Watson JD. Human genome research and the responsible use of new genetic knowledge. Int J Bioeth 1991 Apr-Jun;2(2):99-102.

Kerem E, Lynch A. Screening for cystic fibrosis. Ethical and social issues [editorial]. Am Rev Respir Dis 1991 Mar;143(3):457-60.

Lindahl R, Johnson VP. Molecular medicine: a primer for clinicians -- Part VII: ethical issues associated with genetic testing. S D J Med 1994 Dec;47(12):415-9.

Marshall E. The genome project's conscience [news]. Science 1996 Oct 25;274(5287):488-90.

Miller SR, Schwartz RH. Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis. Am J Public Health 1992 Feb;82(2):236-42.

Parker LS, Majeske RA. Standards of care and ethical concerns in genetic testing and screening. Clin Obstet Gynecol 1996 Dec;39(4):873-84.

Renaud M, Bouchard L, Kremp O, Dallaire L, Labadie JF, Bisson J, Trugeon A. Is selective abortion for a genetic disease an issue for the medical profession? A comparative study of Quebec and France. Prenat Diagn 1993 Aug;13(8):691-706.

Roberts L. Whither the ELSI program? Hastings Cent Rep 1993 Nov-Dec;23(6):5.

Robertson JA. Procreative liberty and human genetics. Emory Law J 1990 Summer;39(3):697-719.

Sachs BP, Korf B. The Human Genome Project: implications for the practicing obstetrician. Obstet Gynecol 1993 Mar;81(3):458-62.

Sigman GS, Kraut J, La Puma J. Disclosure of a diagnosis to children and adolescents when parents object: a clinical ethics analysis. Am J Dis Child 1993 Jul;147(7):764-8.

Stone DH, Stewart S. Screening and the new genetics; a public health perspective on the ethical debate. J Public Health Med 1996 Mar;18(1):3-5.

Watson EK, Marchant J, Bush A, Williamson B. Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic. J Med Genet 1992 Jul;29(7):490-1.

Welkenhuysen M, Evers-Kiebooms G, Decruyenaere M, Van den Berghe H, Bande-Knops J, Van Gerven V. Adolescents' attitude towards carrier testing for cystic fibrosis and its relative stability over time. Eur J Hum Genet 1996;4(1):52-62.

Wertz DC, Janes SR, Rosenfield JM, Erbe RW. Attitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families. Am J Hum Genet 1992 May;50(5):1077-85.

Wertz DC, Rosenfield JM, Janes SR, Erbe RW. Attitudes toward abortion among parents of children with cystic fibrosis. Am J Public Health 1991 Aug;81(8):992-6.

Wexler NS. Disease gene identification: ethical considerations. Hosp Pract (Off Ed) 1991 Oct 15;26(10):145-8, 150, 152.

Wilfond BS, Fost N. The introduction of cystic fibrosis carrier screening into clinical practice: policy considerations. Milbank Q 1992;70(4):629-59.

Williams JK, Lea DH. Applying new genetic technologies: assessment and ethical considerations. Nurse Pract 1995 Jul;20(7):16, 21-6.

Wink DM. A question of ethics [letter]. MCN Am J Matern Child Nurs 1990 Mar-Apr;15(2):74. Comment on: MCN Am J Matern Child Nurs 1989 May-Jun;14(3):196-8.

GENETIC EPIDEMIOLOGY OF CYSTIC FIBROSIS

GLOBAL EPIDEMIOLOGY OF CYSTIC FIBROSIS

Aulehla-Scholz C, Kaiser R, Weber J, Pivetta O, Eigel A, Dworniczak B, Olek K, Horst J. The frequency of the CF delta F508 deletion in CF chromosomes of different ethnic origin. Hum Genet 1990 Sep;85(4):392-3.

Cutting GR. Spectrum of mutations in cystic fibrosis. J Bioenerg Biomembr 1993 Feb;25(1):7-10.

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 1992 Jun;50(6):11 85-94.

de Vries HG, van der Meulen MA, Rozen R, Halley DJ, Scheffer H, ten Kate LP, Buys CH, te Meerman GJ. Haplotype identity between individuals who share a CFTR mutation allele identical by descent: demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. Hum Genet 1996 Sep;98(3):304-9.

Dean M, Gerrard B, Stewart C, Krueger L, Holsclaw D, Quittell L, Baranov V, Kapronov N, Leppert M, Amos J, et al. Identification of cystic fibrosis mutations. Adv Exp Med Biol 1991;290:45-51.

Devoto M, Castagnola S, Saha N, Chetsanga C, Allen M, Gyllensten U, Romeo G. Screening for the major cystic fibrosis mutation in non-Caucasian populations [letter]. Am J Hum Genet 1991 Oct;49(4):903-4.

Kalman YM, Kerem E, Darvasi A, DeMarchi J, Kerem B. Difference in frequencies of the cystic fibrosis alleles, delta F508 and W1282X, between carriers and patients. Eur J Hum Genet 1994;2(2):77-82.

Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X. Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum Mutat 1996;8(2):149-59.

Osborne L, Santis G, Schwarz M, Klinger K, Dork T, McIntosh I, Schwartz M, Nunes V, Macek M Jr, Reiss J, et al. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet 1992 Aug;89(6):653-8.

Population analysis of the major mutation in cystic fibrosis. Hum Genet 1990 Sep;85(4):391-453.

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat 1994;4(3):167-77.

Quinton PM. Human genetics. What is good about cystic fibrosis? Curr Biol 1994 Aug 1;4(8):742-3.

Schroeder SA, Gaughan DM, Swift M. Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis. Nat Med 1995 Jul;1(7):703-5. Comment in: Nat Med 1995 Nov;1(11):1100-2.

Tsui LC. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat 1992;1(3):197-203.

Tsui LC. Population analysis of the major mutation in cystic fibrosis [editorial]. Hum Genet 1990 Sep;85(4):391-2.

Tsui LC. The spectrum of cystic fibrosis mutations. Trends Genet 1992 Nov;8(11):392-8.

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium [letter]. Am J Hum Genet 1990 Aug;47(2):354-9.

EPIDEMIOLOGY OF CYSTIC FIBROSIS - EUROPE

Angelicheva D, Boteva K, Jordanova A, Savov A, Kufardjieva A, Tolun A, Telatar M, Akarsubasi A, Koprubasi F, Aydogdu S, et al. Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation. Hum Mutat 1994;3(4):353-7.

Anglani F, Camporese C, Picci L, Greggio NA, Barbato A, Zacchello F. Cystic fibrosis genetics in southern Europe [letter]. Lancet 1990 Aug 11;336(8711):379-80.

Anvret M, Stolpe L, Dahl N, Eiserman M, Nordenskjold M, Starborg M, Johansson L. Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families [letter]. Clin Genet 1991 Mar;39(3):238-9.

Audrezet MP, Canki-Klain N, Mercier B, Bracar D, Verlingue C, Ferec C. Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients. Hum Genet 1994 Jun;93(6):659-62.

Audrezet MP, Mercier B, Guillermit H, Ferec C. A mutation in exon 7 of the CFTR gene is common in the western part of France [letter]. J Med Genet 1992 Sep;29(9):679.

Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, Ferec C. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 1993 Jan;2(1):51-4. Published erratum appears in Hum Mol Genet 1993 Apr;2(4):496.

Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B. Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. Hum Hered 1993 Sep-Oct;43(5):295-300.

Bal J, Maciejko D, Mazurczak T, Potocka A, Krawczak M, Reiss J. Frequency of the cystic fibrosis mutation delta F508 in Poland [letter]. Hum Genet 1991 Jan;86(3):329.

Bal J, Mazurczak T, Reiss J. The frequency of mutations in exon 11 of the CF gene in Polish cystic fibrosis patients. Acta Biochim Pol 1992;39(3):245-9.

Balassopoulou A, Loukopoulos D, Kollia P, Devoto M, Adam G, Arvanitakis S, Hadjisevastou H. Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect. Hum Genet 1990 Sep;85(4):393-4.

Baranov VS, Gorbunova VN, Ivaschenko TE, Shwed NYu, Osinovskaya NS, Kascheeva TK, Lebedev VM, Mikhailov AV, Vakharlovsky VG, Kuznetzova TV. Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R. Prenat Diagn 1992 Jul;12( 7):575-86.

Baranov VS, Ivaschenko TE, Gorbunova VN, Livshitz LA, Venozinskis MT, Gembovskaya SA, Kalinin VN, Romanenko OP, Gembitzkaya TE, Orlov AV, et al. Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR. Hum Genet 19 91 May;87(1):61-4.

Bertranpetit J, Calafell F. Genetic and geographical variability in cystic fibrosis: evolutionary considerations. Ciba Found Symp 1996;197:97-114; discussion 114-8.

Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide. Hum Mutat 1995;6(1):23-9.

Bonduelle M, Lissens W, Malfroot A, Dab I, Liebaers I. The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population. Hum Genet 1990 Sep;85(4):395-6.

Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, Zelante L, Mastella G, Cabrini G, et al. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90 % of the mutations. Hum Genet 1995 Apr;95(4):397-402.

Borrego S, Casals T, Dapena J, Fernandez E, Gimenez J, Cabeza JC, Sanchez J, Antinolo G. Molecular and clinical analyses of cystic fibrosis in the south of Spain. Clin Genet 1994 Oct;46(4):287-90.

Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD. Novel cystic fibrosis mutation associated with mild disease in Cypriot patients. Hum Genet 1994 May;93(5):529-32.

Casals T, Nunes V, Lazaro C, Gimenez FJ, Girbau E, Volpini V, Estivill X. Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families. J Med Genet 1991 Nov;28(11):771-6.

Casals T, Nunes V, Palacio A, Gimenez J, Gaona A, Ibanez N, Morral N, Estivill X. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 1993 Mar;91(1):66-70.

Casals T, Vazquez C, Lazaro C, Girbau E, Gimenez FJ, Estivill X. Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. Am J Hum Genet 1992 Feb;50(2):404-10.

Cashman SM, Patino A, Delgado MG, Byrne L, Denham B, De Arce M. The Irish cystic fibrosis database. J Med Genet 1995 Dec;32(12):972-5.

Cashman SM, Patino A, Martinez A, Garcia-Delgado M, Miedzybrodzka Z, Schwarz M, Shrimpton A, Ferec C, Raguenes O, Macek M Jr, et al. Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, Eng lish, Scottish, Breton and Czech patients. Hum Hered 1995 Jan-Feb;45(1):6-12.

Cazeneuve C, Beldjord C, Kaplan JC, Bienvenu T. Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ann Genet 1995;38(4):202-5.

Cheadle J, Myring J, al-Jader L, Meredith L. Mutation analysis of 184 cystic fibrosis families in Wales. J Med Genet 1992 Sep;29(9):642-6.

Cheadle JP, Goodchild MC, Meredith AL. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales. Hum Mol Genet 1993 Oct;2(10):1551-6.

Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D. Mutation analysis in 600 French cystic fibrosis patients. J Med Genet 1994 Jul;31(7):541-4.

Chillon M, Casals T, Gimenez J, Nunes V, Estivill X. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Hum Mutat 1994;3(3):223- 30.

Chillon M, Casals T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994 Apr;93( 4):447-51.

Chillon M, Nunes V, Casals T, Gimenez FJ, Fernandez E, Benitez J, Estivill X. Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families. Hum Genet 1990 Sep;85(4):396-7.

Chomel JC, Haliassos A, Tesson L, Kaplan JC, Kitzis A. Frequency of the major CF mutation in French CF patients. Hum Genet 1990 Sep;85(4):397-8.

Claustres M, Desgeorges M, Kjellberg P, Bellet H, Demaille J, Ramsay M. Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France. Hum Genet 1990 Sep;85(4):398-9.

Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J. Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France. Hum Genet 1992 Dec;90(4):464-6.

Claustres M, Desgeorges M, Moine P, Morral N, Estivill X. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Hum Genet 1996 Sep;98(3):336-44.

Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M. Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations. Hum Mutat 1992;1(4):310-3.

Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. Hum Mo l Genet 1993 Aug;2(8):1209-13.

Cochaux P, van Geffel R, Baran D, Poncin J, Vassart G. Prevalence of the delta F508 deletion of the cystic fibrosis gene in Belgian patients. Hum Genet 1990 Sep;85(4):400.

Cochaux P, van Geffel R, Baran D, Vassart G. Prevalence of the major mutation of the CF gene in Belgian patients. Adv Exp Med Biol 1991;290:353-4.

Constantinou-Deltas CD, Georgiou C, Ioannou P, Angastiniotis M, Aristodemou E. delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus. Hum Mutat 1992;1(6):503-5.

Coutelle C, Bruckner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I, et al. Prevalence of cystic fibrosis mutations in the East German population. Hum Mutat 1992;1(2):109-12.

Coutelle C, Grade K, Bruckner R, Szibor R, Will K, Bauer I, Gorki H, Gedschold J, Brock J, Urner U, et al. CF DNA-diagnosis and gene mutation analysis: data from East Germany. Pathol Biol (Paris) 1991 Jun;39(6):585-6.

Cremonesi L, Ruocco L, Seia M, Russo S, Giunta A, Ronchetto P, Fenu L, Romano L, Devoto M, Romeo G, et al. Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients. Hum Genet 1990 Sep;85(4):400-2.

Cuppens H, Legius E, Cabello P, Marynen P, De Boeck C, Decorte R, Fryns JP, Eggermont E, Van den Berghe H, Cassiman JJ. Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families. Hum Genet 1990 Sep;85(4 ):402-3.

Cuppens H, Marynen P, De Boeck C, Cassiman JJ. Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics 1993 Dec;18( 3):693-7.

Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ. CFTR haplotype backgrounds on normal and mutant CFTR genes. Hum Mol Genet 1994 Apr;3(4):607-14.

D'Alcamo E, Sammarco P, di Marzo R, Iapichino L, Pardo F, Maggio A, Balsamo V, Caronia F. Cystic fibrosis in the Sicilian population: linkage disequilibrium and prenatal diagnosis by polymerase chain reaction. Adv Exp Med Biol 1991;290:355-6.

Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A. Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients. Hum Genet 1992 Mar;88(6):699-700.

Dahl N, Grandell U, Martinsson T, Allen M, Johansson L, Stolpe L, Gyllensten U, Hjelte L, Kollberg H, Strandvik B, et al. Frequency of four cystic fibrosis mutations in a Swedish population. Acta Paediatr 1993 Jun-Jul;82(6-7):609.

De Arce MA, Mulherin D, McWilliam P, Lawler M, FitzGerald MX, Humphries P. Frequency of deletion 508 among Irish cystic fibrosis patients. Hum Genet 1990 Sep;85(4):403-4.

De Benedetti L, Ronchetto P, Devoto M, Romeo G, Krainiaia GV, Reznik BY. Preliminary results on cystic fibrosis haplotypes from patients diagnosed in Odessa. Acta Univ Carol [Med] (Praha) 1990;36(1-4):112-4.

De Braekeleer M, Chaventre A, Bertorelle G, Verlingue C, Raguenes O, Mercier B, Ferec C. Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany. Hum Genet 1996 Au g;98(2):223-7.

De Braekeleer M, Daigneault J. Spatial distribution of the DF508 mutation in cystic fibrosis: a review. Hum Biol 1992 Apr;64(2):167-74.

de Vries HG, Collee JM, de Walle HE, van Veldhuizen MH, Smit Sibinga CT, Scheffer H, ten Kate LP. Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. Hum Ge net 1997 Jan;99(1):74-9.

Deufel T, Rabe H, Wieser T, Meitinger T, Rosenecker J, Bertele-Harms R, Harms K, Hadorn HB, Roscher AA. Mutation analysis in the diagnosis of cystic fibrosis. Eur J Pediatr 1993 Nov;152(11):909-11.

Devoto M. Origin and diffusion of the major CF mutation in Europe. The European Working Group on CF Genetics (EWGCFG). Adv Exp Med Biol 1991;290:63-71; discussion 71-4.

Dodge JA, Morison S, Lewis PA, Colest EC, Geddes D, Russell G, Jackson AD, Bentley B. Cystic fibrosis in the United Kingdom, 1968-1988: incidence, population and survival. Paediatr Perinat Epidemiol 1993 Apr;7(2):157-66.

Dork T, Kalin N, Stuhrmann M, Schmidtke J, Tummler B. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Hum Genet 1992 Nov;90(3):279-84.

Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 1994 Nov;94(5):533-42.

Dork T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G, et al. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 1992 Feb;88(4):417-25.

Duarte A, Barreto C, Marques-Pinto L, Tavares MC, Amil J, Pinto M, Chieira ML, Castedo S, Lavinha J. Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology. Hum Genet 1990 Sep;85(4):404-5.

Eiklid K, Tranebjaerg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, et al. Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients. Clin Genet 1993 Jul;44(1):12-4.

Endreffy E, Burg K, Gyurkovits K, Kalman M, Laszlo A, Rasko I. Allele frequencies of cystic fibrosis-linked markers and F508 deletion in affected Hungarian families. Acta Paediatr Hung 1992;32(2):101-13.

Estivill X, Chillon M, Casals T, Bosch A, Morral N, Nunes V, Gasparini P, Seia A, Pignatti PF, Novelli G, et al. Delta F508 gene deletion in cystic fibrosis in southern Europe [letter]. Lancet 1989 Dec 9;2(8676):1404.

Ferec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992 Jun;1(3):188-91.

Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B. Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. Mol Cell Probes 1995 Apr;9(2):135-7.

Gasparini P, Cappello N, Dallapiccola B, Devoto M, Estivill X, Ferrari M, Leoni G, Novelli G, Piazza A, Pignatti PF, et al. Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study. Gene Geogr 1990 Apr;4(1):53-64.< /P>

Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G. Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotype s. Hum Mutat 1993;2(5):389-94.

Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G, et al. The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Ge nomics 1991 May;10(1):193-200.

Glavac D, Ravnik-Glavac M, Dean M. Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population. Hum Mol Genet 1993 Mar;2(3):315-6.

Grade K, Will K, Szibor R, Gedschold J, Bruckner R, Bauer I, Giermann K, Gorki H, Hein J, Brell U, et al. First analysis of the F508 deletion in cystic fibrosis patients from the GDR. Hum Genet 1990 Sep;85(4):406-7.

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). Hum Genet 1990 Sep;85(4):436-45.

Greil I, Wagner K, Eber E, Zach M, Rosenkranz W. Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene. Wien Klin Wochenschr 1995;107(15):464-9.

Guillermit H, Fanen P, Ferec C. A 3' splice site consensus sequence mutation in the cystic fibrosis gene. Hum Genet 1990 Sep;85(4):450-3.

Harris A, Beards F, Mathew C. Mutation analysis at the cystic fibrosis locus in the British population. Hum Genet 1990 Sep;85(4):408-9.

Hendrickx J, Wauters J, Coucke P, Vits L, Van der Auwera B, Willems PJ. DNA diagnosis of cystic fibrosis by direct detection of the delta F508 mutation. Acta Clin Belg 1991;46(1):13-7.

Jaume-Roig B, Simon-Bouy B, Taillandier A, Serre JL, Antich J, Bellon J, Boue J, Boue A. Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci. Hum Genet 1990 Sep;85(4):410-1.

Kadasi L, Gecz J, Krivusova T, Matusek J, Ferak V. Haplotype analysis of the CFTR gene region and the proportion of delta F508 deletion in Slovak patients with cystic fibrosis. Funct Dev Morphol 1992;2(2):141-2.

Kadasi L, Gecz J, Matusek J, Krivusova T, Ferak V, Devoto M, Hruskovic J, Romeo G. Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients. Hum Genet 1992 May;89(3):305-6.

Kalaydjieva L, Angelicheva D, Galeva I, Lalov V, Konstantinova D. Cystic fibrosis in Bulgaria [letter]. J Med Genet 1991 Nov;28(11):807. Comment on: J Med Genet 1990 Nov;27(11):717-9.

Kalaydjieva L, Antov J, Bronzova J, Vladimirova V, Horst J. Molecular data on cystic fibrosis in Bulgaria. Hum Genet 1990 Sep;85(4):412-3.

Kalaydjieva L, Plageras P, Horst J. Further evidence of cystic fibrosis heterogeneity in southern Europe. Hum Hered 1991;41(1):65-7.

Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C. Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mu tation. Hum Genet 1995 Sep;96(3):364-6.

Kapranov N, Ginter E, Kashirskaja N, Hill CM, Ilangovan P, Rolles CJ. Cystic fibrosis in Russia: background and a model for future collaboration with the West. J R Soc Med 1996;89 Suppl 27:44-7.

Kere J, Estivill X, Chillon M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A. Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum Genet 1994 Feb;93(2):162-6.

Kere J, Norio R, Savilahti E, Estivill X, de la Chapelle A. Cystic fibrosis in Finland: a molecular and genealogical study. Hum Genet 1989 Aug;83(1):20-5.

Kere J, Savilahti E, Norio R, Estivill X, de la Chapelle A. Cystic fibrosis mutation delta F508 in Finland: other mutations predominate. Hum Genet 1990 Sep;85(4):413-5.

Koprubasi FF, Malik N, Bosch-al-Jadooa N, Alkan M, Tanac R, Buhler E. Molecular genetic analysis of Turkish cystic fibrosis patients. Ann Genet 1993;36(3):144-9.

Kornfalt R, Andreasson B, Holmberg L. Cystic fibrosis mutations in southern Sweden: relationship to clinical severity. Acta Paediatr 1992 Mar;81(3):262-3.

Larsen J, Georghiou A, Kury FD, Gotz M, Sanz K, Dobianer K, Spona J. Frequency of delta F508 mutation and haplotype analysis in Austrian cystic fibrosis families [letter]. Hum Genet 1992 Jun;89(4):464-5.

Leoni GB, Rosatelli C, Sardu R, Scarpa G, Silvetti M, Cao A. Molecular bases for cystic fibrosis in the Sardinian population. Hum Genet 1990 Sep;85(4):415.

Liechti-Gallati S, Malik N, Alkan M, Maechler M, Morris M, Thonney F, Sennhauser F, Moser H. Association between haplotypes and specific mutations in Swiss cystic fibrosis families. Pediatr Res 1991 Oct;30(4):304-8.

Liechti-Gallati S, Niederer BU, Schneider V, Machler M, Alkan M, Malik N, Braga S, Moser H. Haplotype analysis for CF-linked DNA polymorphisms in Switzerland. Clin Genet 1990 Jun;37(6):442-9.

Liechti-Gallati S, Parsai I, Kraemer R, Rudeberg A, Braga S, Moser H. The delta F508-deletion in 99 CF patients of Switzerland. Adv Exp Med Biol 1991;290:367-8.

Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE. The spectrum of CFTR mutations in south-west German cystic fibrosis patients. Hum Genet 1992 Nov;90(3):267-9.

Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I. The prevalence of the deletion F508 in a Belgian cystic fibrosis population. Adv Exp Med Biol 1991;290:369-70.

Lucotte G, Barre E. Cystic fibrosis delta F508 mutation in a French population. Adv Exp Med Biol 1991;290:371-2.

Lucotte G, Hazout S. Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles. Hum Biol 1995 Aug;67(4):562-76.

Lucotte G, Hazout S, De Braekeleer M. Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation between mutation frequencies and incidence of disease. Hum Biol 1995 Oct;67(5):797-803.

Lucotte G, Hazout S, Loirat F. North-west/south-east gradient in delta F508 frequency in Europe [letter]. Lancet 1991 Oct 5;338(8771):882-3.

Lucotte G, Loirat F. A more detailed map of the cystic fibrosis mutation DF508 frequencies in Europe. Hum Biol 1993 Jun;65(3):503-7.

Macek M Jr, Vavrova V, Boehm I, Stuhrmann M, Reis A, Macek M, Duspisova R, Jelinkova E, Sperling K, Krawczak M, et al. Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families. Adv Exp Med Biol 1991;290:373-5.

Macek M Jr, Vavrova V, Bohm I, Stuhrmann M, Reis A, Duspivova R, Macek M, Sperling K, Krawczak M, Schmidtke J. Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families. Hum Genet 1990 Sep;85(4):417-8.< /P>

Magnani C, Cremonesi L, Belloni E, Ferrari M, Seia M, Russo MP, Devoto M, Ronchetto P, Romeo G. Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population. Clin Genet 1994 Mar;4 5(3):135-9.

McIntosh I, Curtis A, Lorenzo ML, Keston M, Gilfillan AJ, Morris G, Brock DJ. The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland. Hum Genet 1990 Sep;85(4):419-20.

McIntosh I, Lorenzo ML, Brock DJ. Frequency of delta F508 mutation on cystic fibrosis chromosomes in UK [letter]. Lancet 1989 Dec 9;2(8676):1404-5.

McMahon CJ, Genet SA, Middleton-Price HR, Rutland P, Pembrey ME, Malcolm S. The major cystic fibrosis mutation in a British population. Hum Genet 1990 Dec;86(2):236-7.

Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers I, Ferec C. Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations. Hum Mutat 1993;2(1):16-20.

Miedzybrodzka ZH, Dean JC, Russell G, Friend JA, Kelly KF, Haites NE. Prevalence of cystic fibrosis mutations in the Grampian region of Scotland. J Med Genet 1993 Apr;30(4):316-7.

Mittre H, Leymarie P, Leporrier N. High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France [letter]. J Med Genet 1995 Jul;32(7):577.

Molano J, Ezquieta B, Granell R. Screening for cystic fibrosis mutations in Spanish patients. Clin Chim Acta 1994 May;226(2):247-53.

Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek M Jr, Kalaydjieva L, et al. The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet 1994 Jun;7(2):169-75. Comme nt in: Nat Genet 1994 Nov;8(3):216-8.

Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Hum Mol Genet 1993 Jul;2(7):1015-22.

Nemeth K, Fekete G, Kiss E, Varadi A, Holics K, Ujhelyi R. Analysis of five CFTR mutations in Hungarian cystic fibrosis patients. J Inherit Metab Dis 1996;19(3):378.

Nemeti M, Johnson JP, Papp Z, Louie E. The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients. Hum Genet 1992 May;89(2):245-6.

Nemeti M, Louie E, Papp Z, Johnson JP. Molecular analysis of cystic fibrosis in the Hungarian population. Hum Genet 1991 Aug;87(4):511-2.

No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients. European Working Group on Cystic Fibrosis Genetics [letter]. Eur J Hum Genet 1995;3(5):324-5.

Novelli G, Gasparini P, Savoia A, Pignatti PF, Sangiuolo F, Dallapiccola B. Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families. Hum Genet 1990 Sep;85(4):420-1.

Novelli G, Sangiuolo F, Dallapiccola B, Gasparini P, Savoia A, Pignatti PF, Fernandez E, Benitez J, Casals T, Nunes V, et al. Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families [letter]. Prenat Diagn 1990 Jun;10(6):413-4.

Novelli G, Sangiuolo F, Mokini V, Cikuli M, Piazza A, Dallapiccola B. The cystic fibrosis delta F508 mutation in the Albanian population [letter]. Am J Hum Genet 1992 Apr;50(4):875-6.

Nunes V, Bonizzato A, Gaona A, Dognini M, Chillon M, Casals T, Pignatti PF, Novelli G, Estivill X, Gasparini P. A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical pr esentation [letter]. Am J Hum Genet 1992 May;50(5):1140-2.

Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al. Analysis of 14 cystic fibrosis mutations in five south European populations. Hum Genet 1991 Oct;87(6):737-8.

Peral B, Hernandez-Chico C, San Millan JL, Granell R, Molano J, Carrasco S, Telleria JJ, Devoto M, Moreno F. The delta F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families [letter]. Hum Genet 1991 Aug;87(4):516-7.

Puliti A, Orriols JJ, Ronchetto P, Fenu L, Devoto M, Romeo G, Kadasi L, Gecz J, Ferak V. Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. Adv Exp Med Biol 1991;290:383-5.

Ramsay M, Williamson R, Estivill X, Wainwright BJ, Ho MF, Halford S, Kere J, Savilahti E, de la Chapelle A, Schwartz M, et al. Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet 1993 Jul;2(7):1007 -14. Published erratum appears in Hum Mol Genet 1993 Sep;2(9):1523.

Ravnik-Glavac M, Gasparini P, Peterlin B, Strukelj M, Glavac D, Canki-Klain N, Pignatti PF, Komel R. Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population. Ann Genet 1992;35(2):85-8.

Ravnik-Glavac M, Glavac D, Komel R, Dean M. Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations. Hum Mutat 1993;2(4):286-92.

Reis A, Bremer S, Schlosser M, Dueck M, Bohm I, Hundrieser J, Macek M, Stuhrmann M, Wagner M, Dork T, et al. Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population. Hum Genet 1990 Sep;8 5(4):421-2.

Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet 1991 Aug;87(4):457-61.

Reiss J, Ellermeyer U, Rininsland F, Ballhausen P, Lenz U, Wagner S, Schlosser M. A comprehensive CFTR mutation analysis of German cystic fibrosis patients. Hum Mol Genet 1993 Jun;2(6):809-11.

Restagno G, Garnerone S, Gennaro C, Ferrone M, Carbonara A. Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families. Clin Genet 1992 Dec;42(6):309-13.< /P>

Restagno G, Garnerone S, Gennaro C, Varetto O, Ansaldi N, Castello D, Santini B, Carbonara AO. delta F508 deletion in cystic fibrosis in Italian families. Hum Genet 1990 Sep;85(4):422-3.

Romeo G, Devoto M, Galietta LJ. Why is the cystic fibrosis gene so frequent? Hum Genet 1989 Dec;84(1):1-5.

Ronchetto P, Devoto M, Puliti A, Romeo G, Sokolov B, Kalinin VN, Vorsanova SG, Krainiaia GV, Reznik BY. Preliminary results on the frequency of the delta F508 mutation in cystic fibrosis patients from the USSR. Hum Genet 1990 Sep;85(4):423-4.

Ronchetto P, Fenu L, Puliti A, Devoto M, Romano L, Romeo G, Cremonesi L, Carrera P, Ruocco L, Seia M, et al. Frequency of cystic fibrosis mutations among Italian patients. Adv Exp Med Biol 1991;290:387-90.

Russo MP, Romeo G, Devoto M, Barbujani G, Cabrini G, Giunta A, D'Alcamo E, Leoni G, Sangiuolo F, Magnani C, et al. Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian popula tion. Hum Mutat 1995;5(1):23-7.

Santis G, Osborne L, Knight R, Ramsay M, Williamson R, Hodson M. Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients. Hum Genet 1990 Sep;85(4):424-5.

Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L. Double mutant alleles: are they rare? Hum Mol Genet 1995 Jul;4(7):1169-71.

Savov A, Mercier B, Kalaydjieva L, Ferec C. Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing. Hum Mol Genet 1994 Jan;3(1 ):57-60. Published errata appear in Hum Mol Genet 1994 Mar;3(3):530 and 1994 Jun;3(6):1034.

Scheffer H, Bruinvels DJ, te Meerman GJ, Verlind E, Penninga D, Dankert J, Ten Kate LP, Buys CH. Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in dise quilibrium. Hum Genet 1990 Sep;85(4):425-7.

Schwartz M, Anvret M, Claustres M, Eiken HG, Eiklid K, Schaedel C, Stolpe L, Tranebjaerg L. 394delTT: a Nordic cystic fibrosis mutation. Hum Genet 1994 Feb;93(2):157-61.

Schwartz M, Brandt NJ, Koch C, Lanng S, Schiotz PO. Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis. Acta Paediatr 1992 Jun-Jul;81(6-7):522-6.

Schwartz M, Johansen HK, Koch C, Brandt NJ. Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark. Hum Genet 1990 Sep;85(4):427-8.

Schwartz M, Sorensen N, Brandt NJ, Hogdall E, Holm T. High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study. Hum Genet 1995 Jun;95(6):703-6.

Schwarz MJ, Malone GM, Haworth A, Cheadle JP, Meredith AL, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, et al. Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. Hum Mutat 1995;6(4):326-33.

Schwarz MJ, Super M, Wallis C, Beighton P, Newton C, Heptinstall LE, Summers C, Markham A, Hambleton G, Webb KW, et al. Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital. Hum Genet 1990 Sep;85(4):428-30.

Sebastio G, Castiglione O, Incerti B, Salvatore D, Santamaria F. The delta F508 mutation in cystic fibrosis patients of southern Italy. Hum Genet 1990 Sep;85(4):430-1.

Serre JL. Toward a geographical history of the predominant and secondary mutations in Europe. Adv Exp Med Biol 1991;290:55-62.

Serre JL, Mornet E, Simon-Bouy B, Boue J, Boue A. General cystic fibrosis mutations are usually missense mutations affecting two specific protein domains and associated with a specific RFLP marker haplotype. Eur J Hum Genet 1993;1(4):287-95.

Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England. Hum Mutat 1994;3(2):141-51.

Shrimpton AE, McIntosh I, Brock DJ. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. J Med Genet 1991 May;28(5):317-21.

Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boue J, Boue A. The cystic fibrosis delta F508 mutation in the French population. Hum Genet 1990 Sep;85(4):431-2.

Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boue J, Boue A. Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients. Clin Genet 1991 Sep;40(3):218-24.

Simova L, Williams C, Efremov GD, Gordova-Muratovska A, Sustic S, Watson EK, Williamson R. delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population. Hum Genet 1990 Sep;85(4):432-3.

Smyth RL, Ashby D. The United Kingdom cystic fibrosis epidemiology study. Postgrad Med J 1996 Mar;72 Suppl 2:S4-10; discussion S7-10.

Sorensen N, Schwartz M. Incidence of cystic fibrosis at the Faroe Islands. Adv Exp Med Biol 1991;290:403-4.

Spencer DA, Venkataraman M, Higgins S, Stevenson K, Weller PH. Cystic fibrosis in children from ethnic minorities in the West Midlands. Respir Med 1994 Oct;88(9):671-5.

Super M, Schwarz MJ. Mutations of the cystic fibrosis gene locus within the population of the Northwest of England. Eur J Pediatr 1992 Feb;151(2):108-11.

Teng H, Cuppens H, De Boeck C, Cassiman JJ. Identification of seven rather infrequent and one novel CFTR mutation in the Belgian population. Hum Mol Genet 1994 Dec;3(12):2249-50.

Tummler B, Storrs T, Dziadek V, Dork T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schroder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X. Geographic distribution and origin of CFTR mutations in Germany. Hum Genet 1996 Jun;97(6):727-31.

Tzetis M, Kanavakis E, Antoniadi T, Doudounakis S, Adam G, Kattamis C. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Hum Genet 1997 Jan;99(1):121-5.

Wagner K, Zach M, Rosenkranz W. Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families. Hum Genet 1992 Jun;89(4):437-8.

Watson EK, Mayall ES, Simova L, Thompson EM, Warner JO, Williamson R, Williams C. The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families. Hum Genet 1990 Sep;85(4):435-6.

Wauters JG, Hendrickx J, Coucke P, Vits L, Stuer K, van Schil L, van der Auwera BJ, Van Elsen A, Dumon J, Willems PJ, et al. Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. Clin Genet 1991 Feb;39 (2):89-92.

Wennberg C, Kucinskas V. Low frequency of the delta F508 mutation in Finno-Ugrian and Baltic populations. Hum Hered 1994 May-Jun;44(3):169-71.

Witt M, Reis A, Cichy W, Dziechciowska K. Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient. Hum Hered 1996 Nov-Dec;46(6):310-4.

EPIDEMIOLOGY OF CYSTIC FIBROSIS - NORTH AMERICA

Bayleran JK, Yan H, Hopper CA, Simpson EM. Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. Hum Genet 1996 Aug;98(2):207-9.

Beaudet AL, Feldman GL, Kobayashi K, Lemna WK, Fernbach SD, Knowles MR, Boucher RC, O'Brien WE. Mutation analysis for cystic fibrosis in a North American population. Adv Exp Med Biol 1991;290:53-4.

Collazo T, Magarino C, Chavez R, Suardiaz B, Gispert S, Gomez M, Rojo M, Heredero L. Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families. Hum Hered 1995 Jan-Feb;45(1):55-7.

Corsten PG, Blight CE, Riddell DC, Hamilton DC, Cole DE. Molecular diagnosis of cystic fibrosis in Maritime Canada. Clin Invest Med 1994 Feb;17(1):1-8.

Daigneault J, Aubin G, Simard F, De Braekeleer M. Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). Clin Genet 1991 Oct;40(4):298-303.

Daigneault J, Aubin G, Simard F, De Braekeleer M. Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada). Hum Biol 1992 Feb;64(1):115-9.

De Braekeleer M, Daigneault J, Allard C, Simard F, Aubin G. Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada). Ann Hum Biol 1996 Sep-Oct;23(5):345-52.

DeMarchi JM, Caskey CT, Richards CS. Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum Mutat 1996;8(2):116-25.

FitzSimmons SC. The changing epidemiology of cystic fibrosis. Curr Probl Pediatr 1994 May-Jun;24(5):171-9.

FitzSimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr 1993 Jan;122(1):1-9. Comment in: J Pediatr 1993 Jul;123(1):172.

Gilbert F, Schoelkopf J, Li Z, Arzimanoglou II, Shaham M, Udey J, Arzimanoglou I [corrected to Arzimanoglou II]. Ethnic intermarriage and its consequences for cystic fibrosis carrier screening. Am J Prev Med 1995 Jul-Aug;11(4):251-5. Published erratum appears in Am J Prev Med 1996 Jul-Aug;12(4):preceding 218.

Grebe TA, Doane WW, Richter SF, Clericuzio C, Norman RA, Seltzer WK, Rhodes SN, Goldberg BE, Hernried LS, McClure M, et al. Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. Am J Hum Genet 1992 Oct;51(4):736-40.

Grebe TA, Doane WW, Richter SF, Seltzer WK, Jain KD. A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al [letter]. Am J Hum Genet 1996 Jul;59(1):269-72. Comment on: Am J Hum Genet 1995 Feb;56(2):544-7.

Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet 1994 Mar;54(3):443-6. Comment in: Am J Hum Genet 1995 Feb; 56(2):544-7.

Highsmith WE Jr, Chong GL, Orr HT, Perry TR, Schald D, Farber R, Wagner K, Knowles MR, Warwick WJ, Silverman LM, et al. Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis pati ents: results of a collaborative study. Clin Chem 1990 Oct;36(10):1741-6.

Hoffman RA, Floyd ME, Whetsell LH, Kramer JC, Schaefer FV. Cystic fibrosis in the southern Midwest United States: molecular characterization of the common mutations. Am J Med Sci 1994 Feb;307(2):82-5.

Kessler D, Moehlenkamp C, Kaplan G. Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico. Clin Genet 1996 Feb;49(2):95-7.

Klinger K, Horn GT, Stanislovitis P, Schwartz RH, Fujiwara TM, Morgan K. Cystic fibrosis mutations in the Hutterite Brethren. Am J Hum Genet 1990 May;46(5):983-7.

Kosorok MR, Wei WH, Farrell PM. The incidence of cystic fibrosis. Stat Med 1996 Mar 15;15(5):449-62.

Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med 1990 Feb 1;322(5):291-6. Commen ts in: N Engl J Med 1990 Feb 1;322(5):328-9; N Engl J Med 1990 Jul 5;323(1):62-3.

Littlewood JM. Update on the United States epidemiology study. Postgrad Med J 1996 Mar;72 Suppl 2:S6; discussion S7-10.

McColley SA, Rosenstein BJ, Cutting GR. Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child 1991 Jan;145(1):94-7.

Mercier B, Raguenes O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, et al. Complete detection of mutations in cystic fibrosis patients of Native American origin. Hum Genet 1994 Dec;94(6):629-32.

Ober C, Lester LA, Mott C, Billstrand C, Lemke A, van der Ven K, Marcus S, Kraut J, Lloyd-Still J, Booth C. Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families. Am J Hum Genet 1992 De c;51(6):1344-8.

Orozco L, Salcedo M, Lezana JL, Chavez M, Valdez H, Moreno M, Carnevale A. Frequency of delta F508 in a Mexican sample of cystic fibrosis patients. J Med Genet 1993 Jun;30(6):501-2.

Park VM, Smith ME, Knight MT, Rock MJ. A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier. J Med Genet 1995 May;32(5):401-2.

Phillips OP, Bishop C, Woods D, Elias S. Cystic fibrosis mutations among African Americans in the southeastern United States. J Natl Med Assoc 1995 Jun;87(6):433-5.

Phillips OP, Elias S, Woods D, Hanissian AS, Schoumacher RA, Bishop C. Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening. Am J Obstet Gynecol 1993 Apr;168(4):1076-82.

Prapphal N, Fitzpatrick SB, Getson P, Fink R, O'Donnell R, Chaney H. Cystic fibrosis in blacks in Washington, DC: fifteen years' experience. J Natl Med Assoc 1989 Mar;81(3):263-7.

Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an eleva ted incidence of cystic fibrosis. Am J Med Genet 1992 Feb 1;42(3):360-4.

Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, Klinger K, Daigneault J, De Braekeleer M, Kerem B, Tsui L, et al. Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Ac adian families. Am J Hum Genet 1990 Oct;47(4):606-10.

Traystman MD, Schulte N, Colombo JL, Sammut PH, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling WJ, et al. Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center . Hum Mutat 1993;2(1):7-15.

Traystman MD, Schulte NA, MacDonald M, Anderson JR, Sanger WG. Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank. Hum Mutat 1994;4(4):271-5.

Villarreal MT, Chavez M, Lezana JL, Cuevas F, Carnevale A, Codova E, del Angel RM, Orozco L. G542X mutation in Mexican cystic fibrosis patients. Clin Genet 1996 Jan;49(1):54-6.

Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991 May;10(1):229-35.

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet 1993 Mar;52(3):609-15.

Zielenski J, Markiewicz D, Rininsland F, Rommens J, Tsui LC. A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am J Hum Genet 1991 Dec;49(6):1256-62.

EPIDEMIOLOGY OF CYSTIC FIBROSIS - SOUTH AMERICA

Bienvenu T, Chertkoff L, Beldjord C, Segal E, Carniglia L, Barreiro C, Kaplan JC. Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients. Hum Mutat 1996;7(4):376-7.

de Miranda AB, Llerena Junior J, Dallalana LT, Moura-Neto RS, Suffys PN, Degrave WM. Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients. Mem Inst Oswaldo Cruz 1993 Apr-Jun;88(2):309-12.

Luna MC, Granados PA, Olek K, Pivetta OH. Cystic fibrosis in Argentina: the frequency of the delta F508 mutation. Hum Genet 1996 Mar;97(3):314.

Macri CN, de Gentile AS, Manterola A, Tomezzoli S, Reis FC, Largo Garcia I, Lezana Fernandez JL. Epidemiology of cystic fibrosis in Latin America: preliminary communication. Pediatr Pulmonol 1991;10(4):249-53.

Martins CS, Ribeiro F, Costa FF. Frequency of the cystic fibrosis delta F 508 mutation in a population from Sao Paulo State, Brazil. Braz J Med Biol Res 1993 Oct;26(10):1037-40.

Raskin S, Phillips JA 3d, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, et al. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am J Med Genet 1993 Jul 1;46 (6):665-9.

Rios J, Orellana O, Aspillaga M, Avendano I, Largo I, Riveros N. CFTR mutations in Chilean cystic fibrosis patients. Hum Genet 1994 Sep;94(3):291-4.

Saleh MC, Botelli A, Melano de Botelli M, Rezzonico CA, Argarana CE. Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina. Medicina (B Aires) 1996;56(1):14-6.

EPIDEMIOLOGY OF CYSTIC FIBROSIS - ASIA

Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992 No v;51(5):951-6. Comment in: Am J Hum Genet 1992 Nov;51(5):943-50.

Al-Mobaireek KF, Abdullah AM. Cystic fibrosis in Saudi Arabia: common and rare presentations. Ann Trop Paediatr 1995 Dec;15(4):269-72.

Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS. Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. J Med Genet 1993 Feb;30(2):16 4-6.

Hundrieser J, Bremer S, Peinemann F, Stuhrmann M, Hoffknecht N, Wulf B, Schmidtke J, Reiss J, Maass G, Tummler B. Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients. Hum Genet 1990 Sep;85(4):409-10.

Imaizumi Y. Incidence and mortality rates of cystic fibrosis in Japan, 1969-1992. Am J Med Genet 1995 Aug 28;58(2):161-8.

Kerem E, Kalman YM, Yahav Y, Shoshani T, Abeliovich D, Szeinberg A, Rivlin J, Blau H, Tal A, Ben-Tur L, et al. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 19 95 Aug;96(2):193-7.

Kunitomo K, Komi N, Kawahito M, Miura M, Sasaki K. Cystic fibrosis in Japan. Tokushima J Exp Med 1991 Dec;38(3-4):85-9.

Lerer I, Cohen S, Chemke M, Friedmen A, Abeliovich D. The delta F508 mutation in Israeli CF families. Adv Exp Med Biol 1991;290:365-6.

Lerer I, Cohen S, Chemke M, Sanilevich A, Rivlin J, Golan A, Yahav J, Friedman A, Abeliovich D. The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs. H um Genet 1990 Sep;85(4):416-7.

Lerer I, Sagi M, Cutting GR, Abeliovich D. Cystic fibrosis mutations delta F508 and G542X in Jewish patients. J Med Genet 1992 Feb;29(2):131-3.

Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996;4(1):20-4.

Nazer HM. Early diagnosis of cystic fibrosis in Jordanian children. J Trop Pediatr 1992 Jun;38(3):113-5.

Norzila MZ, Azizi BH. Cystic fibrosis in Malay children--a report of three cases. Singapore Med J 1996 Jun;37(3):273-4.

Ozguc M, Yilmaz E, Erdem H, Coskun T, Ozcelik U, Togan I, Gocmen A, Ayter S, Ozalp I. Allele frequencies of Mp6D-9 and GATT markers in 32 Turkish cystic fibrosis families. Clin Genet 1994 May;45(5):266-8.

Powers CA, Potter EM, Wessel HU, Lloyd-Still JD. Cystic fibrosis in Asian Indians. Arch Pediatr Adolesc Med 1996 May;150(5):554-5.

Sereth H, Shoshani T, Bashan N, Kerem BS. Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis. Hum Genet 1993 Oct 1;92(3):289-95.

Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 1992 Jan;50(1):222-8.

Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered 1995 May-Jun;45(3):175-7.

EPIDEMIOLOGY OF CYSTIC FIBROSIS - AUSTRALIA

Goldblatt J, Creegan R, Edkins T, Landau LI, Ryan G, Walpole IR. Mutation analysis of Western Australian families affected by cystic fibrosis. Med J Aust 1995 Jan 2;162(1):12-5.

Nelson PV, Carey WF, Morris CP, Pollard AC. The frequency of the common (delta F508) cystic fibrosis mutation in the Australian population [letter]. Med J Aust 1990 Mar 19;152(6):328.

EPIDEMIOLOGY OF CYSTIC FIBROSIS - AFRICA

Bateman ED. Frequency of mutant cystic fibrosis genes in South Africa [editorial]. S Afr Med J 1992 Jul;82(1):2-3.

Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan JC, Beldjord C. Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island. Hum Mutat 1993;2(4):306-8.

Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, de Ravel TJ, Westwood AT, Claustres M, Ramsay M. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996 Sep;33(9):802-4.

Chevalier-Porst F, Chomel JC, Hillaire D, Kitzis A, Kaplan JC, Goutaland R, Mathieu M, Bozon D. A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island. Hum Mol Genet 1992 Nov;1(8):647-8.

Denter M, Ramsay M, Jenkins T. Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis. S Afr Med J 1992 Jul;82(1):7-10.

Goldman A, Jenkins T, Ramsay M. Analysis of 40 known cystic fibrosis mutations in South African patients. Clin Genet 1994 Dec;46(6):398-400.

Herbert JS, Retief AE. The frequency of the delta F508 mutation in the cystic fibrosis genes of 71 unrelated South African cystic fibrosis patients. S Afr Med J 1992 Jul;82(1):13-5.

Hillaire D, Chomel JC, Lesure F, Renouil M, Musenger C, Pierson F, Berthelon M, Lenoir G, Gerard G, Bois E, et al. Cystic fibrosis in the population of Reunion Island. Ann Genet 1991;34(1):5-7.

Lucotte G, Barre E, Berriche S. Frequency of the cystic fibrosis mutation delta F508 in Algeria [letter]. Hum Genet 1991 Oct;87(6):759.

GENE THERAPY FOR CYSTIC FIBROSIS

Adventures with adenovirus [editorial]. Nat Genet 1993 Jan;3(1):1-2.

Alton E, Geddes D. A mixed message for cystic fibrosis gene therapy [news]. Nat Genet 1994 Sep;8(1):8-9. Comment on: Nat Genet 1994 Sep;8(1):42-51.

Alton E, Geddes DM. Gene therapy [letter]. N Engl J Med 1996 Feb 1;334(5):332; discussion 333. Comments on: N Engl J Med 1995 Sep 28;333(13):823-31; N Engl J Med 1995 Sep 28;333(13):871-3.

Alton EW. Gene therapy for cystic fibrosis. J Inherit Metab Dis 1995;18(4):501-7.

Alton EW. Towards gene therapy for cystic fibrosis. J Pharm Pharmacol 1995 May;47(5):351-4.

Alton EW, Geddes DM. Gene therapy for respiratory diseases: potential applications and difficulties [editorial]. Thorax 1995 May;50(5):484-6.

Berger A. Safety ruling opens gene therapy to women with CF [news]. New Sci 1995 Jun 3;146(1980):8.

BeSaw L. Gene therapy uproar. Texas researchers say pessimism is unfounded. Tex Med 1995 Dec;91(12):20-3.

Boucher RC. Current status of CF gene therapy. Trends Genet 1996 Mar;12(3):81-4.

Bradbury NA, Bridges RJ. Regulated membrane vesicle trafficking: a defect in cystic fibrosis corrected by gene transfer. Biochem Soc Trans 1992 May;20(2):124S.

Brown P. Britain dithers over gene therapy [news]. New Sci 1992 Dec 12;136(1851):4.

Bryson HM, Sorkin EM. Dornase alfa. A review of its pharmacological properties and therapeutic potential in cystic fibrosis. Drugs 1994 Dec;48(6):894-906.

Caplen NJ, Alton EW, Middleton PG, Dorin JR, Stevenson BJ, Gao X, Durham SR, Jeffery PK, Hodson ME, Coutelle C, et al. Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Nat Med 1995 Jan;1(1):39-46. Comments in: Nat Med 1995 Jan;1(1):15-7; Nat Med 1995 Mar;1(3):182. Published erratum appears in Nat Med 1995 Mar;1(3):272.

Caplen NJ, Gao X, Hayes P, Elaswarapu R, Fisher G, Kinrade E, Chakera A, Schorr J, Hughes B, Dorin JR, et al. Gene therapy for cystic fibrosis in humans by liposome-mediated DNA transfer: the production of resources and the regulatory process. Gene The r 1994 Mar;1(2):139-47.

Chinet TC. Use of in vivo nasal transepithelial potential difference to evaluate efficacy in CF gene therapy phase I trials [editorial]. Eur Respir J 1994 Nov;7(11):1917-20. Comment on: Eur Respir J 1994 Nov;7(11):2050-6.

Coghlan A. Gene dream fades away. New Sci 1995 Nov 25;148(2005):14-5.

Collins FS. Cystic fibrosis: molecular biology and therapeutic implications. Science 1992 May 8;256(5058):774-9.

Crystal RG. The gene as the drug. Nat Med 1995 Jan;1(1):15-7. Comment on: Nat Med 1995 Jan;1(1):39-46.

Crystal RG. Gene therapy strategies for pulmonary disease. Am J Med 1992 Jun 22;92(6A):44S-52S.

Crystal RG, Jaffe A, Brody S, Mastrangeli A, McElvaney NG, Rosenfeld M, Chu CS, Danel C, Hay J, Eissa T. A phase 1 study, in cystic fibrosis patients, of the safety, toxicity, and biological efficacy of a single administration of a replication deficien t, recombinant adenovirus carrying the cDNA of the normal cystic fibrosis transmembrane conductance regulator gene in the lung. Hum Gene Ther 1995 May;6(5):643-66.

Crystal RG, Mastrangeli A, Sanders A, Cooke J, King T, Gilbert F, Henschke C, Pascal W, Herena J, Harvey BG, et al. Evaluation of repeat administration of a replication deficient, recombinant adenovirus containing the normal cystic fibrosis transmembra ne conductance regulator cDNA to the airways of individuals with cystic fibrosis. Hum Gene Ther 1995 May;6(5):667-703.

Crystal RG, McElvaney NG, Rosenfeld MA, Chu CS, Mastrangeli A, Hay JG, Brody SL, Jaffe HA, Eissa NT, Danel C. Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nat Genet 1994 Se p;8(1):42-51. Comment in: Nat Genet 1994 Sep;8(1):8-9.

Cuthbert A. Cystic fibrosis gene update. J R Soc Med 1994;87 Suppl 21:2-4.

Davies K, Williamson B. Gene therapy begins [editorial]. BMJ 1993 Jun 19;306(6893):1625-6. Published erratum appears in BMJ 1993 Jul 10;307(6896):82.

Davis PB. Cystic fibrosis: new perceptions, new strategies. Hosp Pract (Off Ed) 1992 Nov 15;27(11):79-83, 87-8, 93-4 passim.

Delaney SJ, Wainwright BJ. New pharmaceutical approaches to the treatment of cystic fibrosis. Nat Med 1996 Apr;2(4):392-3. Comment on: Nat Med 1996 Apr;2(4):467-9.

Dickler HB, Collier E. Gene therapy in the treatment of disease. J Allergy Clin Immunol 1994 Dec;94(6 Pt 1):942-51.

Dietz HC, Hamosh A. Nonstop treatment of cystic fibrosis [letter]. Nat Med 1996 Jun;2(6):608-9. Comment on: Nat Med 1996 Apr;2(4):467-9.

Dodge JA. Gene therapy for cystic fibrosis [letter]. Nat Med 1995 Mar;1(3):182. Comment on: Nat Med 1995 Jan;1(1):39-46.

Drumm ML, Pope HA, Cliff WH, Rommens JM, Marvin SA, Tsui LC, Collins FS, Frizzell RA, Wilson JM. Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell 1990 Sep 21;62(6):1227-33. Published erratum appears in Cell 1 993 Jun 16;74(1):215.

Eissa NT, Chu CS, Danel C, Crystal RG. Evaluation of the respiratory epithelium of normals and individuals with cystic fibrosis for the presence of adenovirus E1a sequences relevant to the use of E1a- adenovirus vectors for gene therapy for the respira tory manifestations of cystic fibrosis. Hum Gene Ther 1994 Sep;5(9):1105-14.

Elgavish A, Meezan E. Altered sulfate transport via anion exchange in CFPAC is corrected by retrovirus-mediated CFTR gene transfer. Am J Physiol 1992 Jul;263(1 Pt 1):C176-86.

Featherstone C. Old hopes and new horizons for treating cystic fibrosis [news]. Lancet 1996 Jun 1;347(9014):1544.

Flotte TR. Prospects for virus-based gene therapy for cystic fibrosis. J Bioenerg Biomembr 1993 Feb;25(1):37-42.

Flotte TR, Afione SA, Solow R, Drumm ML, Markakis D, Guggino WB, Zeitlin PL, Carter BJ. Expression of the cystic fibrosis transmembrane conductance regulator from a novel adeno-associated virus promoter. J Biol Chem 1993 Feb 15;268(5):3781-90.

Flotte TR, Afione SA, Zeitlin PL. Adeno-associated virus vector gene expression occurs in nondividing cells in the absence of vector DNA integration. Am J Respir Cell Mol Biol 1994 Nov;11(5):517-21.

Geisow MJ. Inspired respiratory solutions. Trends Biotechnol 1992 Jun;10(6):181-2.

Gene therapy for cystic fibrosis utilizing a replication deficient recombinant adenovirus vector to deliver the human cystic fibrosis transmembrane conductance regulator cDNA to the airways. A phase I study. Hum Gene Ther 1994 Aug;5(8):1019-57.

Gruenert DC. Cystic fibrosis therapy--where we are and how we got there [editorial]. West J Med 1996 Apr;164(4):361-2. Comment on: West J Med 1996 Apr;164(4):321-34.

Halbert CL, Alexander IE, Wolgamot GM, Miller AD. Adeno-associated virus vectors transduce primary cells much less efficiently than immortalized cells. J Virol 1995 Mar;69(3):1473-9.

Hart SL, Mayall E, Stern M, Munkonge FM, Frost A, Huang L, Vasilliou M, Williamson R, Alton EW, Coutelle C. The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments. Hu m Mol Genet 1995 Sep;4(9):1597-602.

Hay JG, McElvaney NG, Herena J, Crystal RG. Modification of nasal epithelial potential differences of individuals with cystic fibrosis consequent to local administration of a normal CFTR cDNA adenovirus gene transfer vector. Hum Gene Ther 1995 Nov;6(11 ):1487-96.

Healy B. From the National Institutes of Health: the pace of human gene transfer research quickens [news]. JAMA 1993 Feb 3;269(5):567.

Jiang C, O'Connor SP, Armentano D, Berthelette PB, Schiavi SC, Jefferson DM, Smith AE, Wadsworth SC, Cheng SH. Ability of adenovirus vectors containing different CFTR transcriptional cassettes to correct ion transport defects in CF cells. Am J Physiol 1996 Oct;271(4 Pt 1):L527-37.

Johnson LG. Gene therapy for cystic fibrosis. Chest 1995 Feb;107(2 Suppl):77S-83S.

Johnson LG, Boyles SE, Wilson J, Boucher RC. Normalization of raised sodium absorption and raised calcium-mediated chloride secretion by adenovirus-mediated expression of cystic fibrosis transmembrane conductance regulator in primary human cystic fibro sis airway epithelial cells. J Clin Invest 1995 Mar;95(3):1377-82.

Johnson LG, Olsen JC, Sarkadi B, Moore KL, Swanstrom R, Boucher RC. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nat Genet 1992 Sep;2(1):21-5.

Johnson LG, Pickles RJ, Boyles SE, Morris JC, Ye H, Zhou Z, Olsen JC, Boucher RC. In vitro assessment of variables affecting the efficiency and efficacy of adenovirus-mediated gene transfer to cystic fibrosis airway epithelia. Hum Gene Ther 1996 Jan;7( 1):51-9.

Kearns WG, Afione SA, Fulmer SB, Pang MC, Erikson D, Egan M, Landrum MJ, Flotte TR, Cutting GR. Recombinant adeno-associated virus (AAV-CFTR) vectors do not integrate in a site-specific fashion in an immortalized epithelial cell line. Gene Ther 1996 Se p;3(9):748-55.

Knowles MR, Hohneker KW, Zhou Z, Olsen JC, Noah TL, Hu PC, Leigh MW, Engelhardt JF, Edwards LJ, Jones KR, et al. A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med 1995 Sep 28;333(13):823-31. Comments in: N Engl J Med 1995 Sep 28;333(13):871-3; N Engl J Med 1996 Feb 1;334(5):332; discussion 333; N Engl J Med 1996 Feb 1;334(5):332-3.

Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995 Apr;6(4):445-55.

Kollen WJ, Midoux P, Erbacher P, Yip A, Roche AC, Monsigny M, Glick MC, Scanlin TF. Gluconoylated and glycosylated polylysines as vectors for gene transfer into cystic fibrosis airway epithelial cells. Hum Gene Ther 1996 Aug 20;7(13):1577-86.

Lehrman S. NIH awards gene centre grants [news]. Nature 1993 Nov 4;366(6450):3.

Leiden JM. Gene therapy--promise, pitfalls, and prognosis [editorial]. N Engl J Med 1995 Sep 28;333(13):871-3. Comments on: N Engl J Med 1995 Sep 28;333(13):823-31; N Engl J Med 1995 Sep 28;333(13):832-8. Comment in: N Engl J Med 1996 Feb 1;334(5):33 2; discussion 333.

Littlewood JM, Conway SP, Page RL. Cystic fibrosis. 7. Management of cystic fibrosis in different countries. Cystic fibrosis in Leeds. Thorax 1991 May;46(5):387-9; discussion 389-90.

Marshall E. Gene therapy's growing pains [news]. Science 1995 Aug 25;269(5227):1050-5.

McElvaney NG, Crystal RG. IL-6 release and airway administration of human CFR cDNA adenovirus vector [letter]. Nat Med 1995 Mar;1(3):182-4.

McElvaney NG, Doujaiji B, Moan MJ, Burnham MR, Wu MC, Crystal RG. Pharmacokinetics of recombinant secretory leukoprotease inhibitor aerosolized to normals and individuals with cystic fibrosis. Am Rev Respir Dis 1993 Oct;148(4 Pt 1):1056-60.

Mennie ME, Compton ME, Liston WA, Brock DJ. Gene therapy for cystic fibrosis: will it affect the uptake of prenatal carrier screening? Prenat Diagn 1994 Dec;14(12):1158-62.

Mergey M, Lemnaouar M, Veissiere D, Perricaudet M, Gruenert DC, Picard J, Capeau J, Brahimi-Horn MC, Paul A. CFTR gene transfer corrects defective glycoconjugate secretion in human CF epithelial tracheal cells. Am J Physiol 1995 Dec;269(6 Pt 1):L855-64 .

Middleton PG, Geddes DM, Alton EW. Protocols for in vivo measurement of the ion transport defects in cystic fibrosis nasal epithelium. Eur Respir J 1994 Nov;7(11):2050-6. Comment in: Eur Respir J 1994 Nov;7(11):1917-20.

Midro AT, Kulczycki LL. New perspectives and hope for cure-reflecting recent genetic developments in cystic fibrosis. Mater Med Pol 1992 Oct-Dec;24(4):253-5.

Mittereder N, Yei S, Bachurski C, Cuppoletti J, Whitsett JA, Tolstoshev P, Trapnell BC. Evaluation of the efficacy and safety of in vitro, adenovirus-mediated transfer of the human cystic fibrosis transmembrane conductance regulator cDNA. Hum Gene Ther 1994 Jun;5(6):717-29.

O'Neal WK, Beaudet AL. Somatic gene therapy for cystic fibrosis. Hum Mol Genet 1994;3 Spec No:1497-502.

Olsen JC, Johnson LG, Wong-Sun ML, Moore KL, Swanstrom R, Boucher RC. Retrovirus-mediated gene transfer to cystic fibrosis airway epithelial cells: effect of selectable marker sequences on long-term expression. Nucleic Acids Res 1993 Feb 11;21(3):663-9 .

Owen CA. Recent advances in somatic gene therapy for hereditary respiratory diseases. Thorax 1992 Apr;47(4):315-6.

Pickler RH, Munro CL. Gene therapy for inherited disorders. J Pediatr Nurs 1995 Feb;10(1):40-7.

Ramakrishna J, Grand RJ. Gene therapy for exocrine pancreatic insufficiency [editorial]. Gastroenterology 1994 Jun;106(6):1711-3. Comment on: Gastroenterology 1994 Jun;106(6):1638-44.

Ramsey BW. Management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 1996 Jul 18;335(3):179-88.

Ramsey BW, Astley SJ, Aitken ML, Burke W, Colin AA, Dorkin HL, Eisenberg JD, Gibson RL, Harwood IR, Schidlow DV, et al. Efficacy and safety of short-term administration of aerosolized recombinant human deoxyribonuclease in patients with cystic fibrosis . Am Rev Respir Dis 1993 Jul;148(1):145-51.

Roberts L. Cystic fibrosis corrected in lab [news]. Science 1990 Sep 28;249(4976):1503.

Rosenecker J, Harms KH, Bertele RM, Pohl-Koppe A, v. Mutius E, Adam D, Nicolai T. Adenovirus infection in cystic fibrosis patients: implications for the use of adenoviral vectors for gene transfer. Infection 1996 Jan-Feb;24(1):5-8.

Rosenfeld MA, Chu CS, Seth P, Danel C, Banks T, Yoneyama K, Yoshimura K, Crystal RG. Gene transfer to freshly isolated human respiratory epithelial cells in vitro using a replication-deficient adenovirus containing the human cystic fibrosis transmembra ne conductance regulator cDNA. Hum Gene Ther 1994 Mar;5(3):331-42.

Rosenfeld MA, Ronald G, Crystal RG. Gene therapy for pulmonary diseases. Pathol Biol (Paris) 1993 Oct;41(8):677-80.

Samara G, Sawicki MP, Hurwitz M, Passaro E Jr. Molecular biology and therapy of disease. Am J Surg 1993 Jun;165(6):720-7.

Saw SM, Taskar V. Gene therapy for cystic fibrosis: a potential cure. Md Med J 1996 Apr;45(4):305-7.

Scott MT. Cystic fibrosis: the breakthrough to gene therapy. Prof Care Mother Child 1994 Aug-Sep;4(6):164-5.

Shalon LB, Adelson JW. Cystic fibrosis. Gastrointestinal complications and gene therapy. Pediatr Clin North Am 1996 Feb;43(1):157-96.

Siegfried W. Perspectives in gene therapy with recombinant adenoviruses. Exp Clin Endocrinol 1993;101(1):7-11.

Smith AE. Treatment of cystic fibrosis based on understanding CFTR. J Inherit Metab Dis 1995;18(4):508-16.

Sorscher EJ, Logan JJ, Frizzell RA, Lyrene RK, Bebok Z, Dong JY, Duvall MD, Felgner PL, Matalon S, Walker L, et al. Gene therapy for cystic fibrosis using cationic liposome mediated gene transfer: a phase I trial of safety and efficacy in the nasal air way. Hum Gene Ther 1994 Oct;5(10):1259-77.

Sorscher EJ, Logan JJ, Frizzell RA, Lyrene RK, Bebok Z, Dong JY, Duvall MD, Felgner PL, Matalon S, Walker L, Wiatrak BJ. Informed consent to participate in a research study -- gene therapy for cystic fibrosis using cationic liposome mediated gene trans fer: a phase I trial of safety and efficacy in the nasal airway. Hum Gene Ther 1994 Oct;5(10):1271-7.

Southern KW. Gene therapy for cystic fibrosis: current issues. Br J Hosp Med 1996 Apr 17-30;55(8):495-9.

Stableforth DE. New respiratory therapies in cystic fibrosis. J R Soc Med 1994;87 Suppl 21:11-6.

Taussig LM. Advances in cystic fibrosis: bringing the bench to the bedside. Eur J Pediatr 1995;154(9 Suppl 4):S9-10.

Thompson L. Gene therapy. Harkin seeks compassionate use of unproven treatments [news]. Science 1992 Dec 11;258(5089):1728. Comment in: Science 1993 Mar 19;259(5102):1678-9.

Tizzano EF, Buchwald M. Cystic fibrosis: beyond the gene to therapy. J Pediatr 1992 Mar;120(3):337-49.

Ulmer JS, Herzka A, Toy KJ, Baker DL, Dodge AH, Sinicropi D, Shak S, Lazarus RA. Engineering actin-resistant human DNase I for treatment of cystic fibrosis. Proc Natl Acad Sci U S A 1996 Aug 6;93(16):8225-9.

Vega MA, Goossens M, Besmond C. A powerful method for in vitro selection of normal versus cystic fibrosis airway epithelial cells. Gene Ther 1994 Jan;1(1):59-63.

Welsh MJ, Smith AE, Zabner J, Rich DP, Graham SM, Gregory RJ, Pratt BM, Moscicki RA. Cystic fibrosis gene therapy using an adenovirus vector: in vivo safety and efficacy in nasal epithelium. Hum Gene Ther 1994 Feb;5(2):209-19.

Welsh MJ, Zabner J, Graham SM, Smith AE, Moscicki R, Wadsworth S. Adenovirus-mediated gene transfer for cystic fibrosis: Part A. Safety of dose and repeat administration in the nasal epithelium. Part B. Clinical efficacy in the maxillary sinus. Hum Gen e Ther 1995 Feb;6(2):205-18.

White KR, Munro CL, Pickler RH. Therapeutic implications of recent advances in cystic fibrosis. MCN Am J Matern Child Nurs 1995 Nov-Dec;20(6):304-8.

Williamson B. Gene therapy. Gut 1992 Dec;33(12):1585-6.

Wilson JM. Vectors--shuttle vehicles for gene therapy. Clin Exp Immunol 1997 Jan;107 Suppl 1:31-2.

Wilson JM, Caplan AL. Gene therapy in academic medical centers [editorial]. Gene Therapy 1995 May;2(3):169-70.

Zabner J, Couture LA, Gregory RJ, Graham SM, Smith AE, Welsh MJ. Adenovirus-mediated gene transfer transiently corrects the chloride transport defect in nasal epithelia of patients with cystic fibrosis. Cell 1993 Oct 22;75(2):207-16.

Zabner J, Couture LA, Smith AE, Welsh MJ. Correction of cAMP-stimulated fluid secretion in cystic fibrosis airway epithelia: efficiency of adenovirus-mediated gene transfer in vitro. Hum Gene Ther 1994 May;5(5):585-93.

Zabner J, Ramsey BW, Meeker DP, Aitken ML, Balfour RP, Gibson RL, Launspach J, Moscicki RA, Richards SM, Standaert TA, et al. Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithe lium of patients with cystic fibrosis. J Clin Invest 1996 Mar 15;97(6):1504-11.

Last updated: 21 March 1997
First published: 21 March 1997
Metadata | Permanence level: Permanent: Stable Content