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Study Related Publications

Savage SA, Alter BP: The role of telomere biology in bone marrow failure and other disorders. Mechanisms of Aging and Development 129:35-47, 2008.

 

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP: TINF2, a component of the shelterin telomere protection complex, is mutated in Dyskeratosis Congenita. American Journal of Human Genetics 82:501-509, 2008.

 

Alter BP, Lipton JM: Anemia, Fanconi. eMedicine Journal [serial online]. Updated, 2007.

 

Alter BP, Rosenberg PS, Brody L: Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics 44:1-9, 2007.

 

Alter BP, Rosenberg PS: Granulocyte-colony stimulating factor and aplastic anemia. Blood 109:4589, 2007.

 

Alter BP, Baerlocher G, Savage SA, Chanock SJ, Weksler BB, Willner J, Peters JA, Giri N, Lansdorp PM: Very short telomere by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 110:1439-1447, 2007.

 

Alter BP: Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology (Am Soc Hematol Educ Program). 2007:29-39.

 

Giri N, Batista D, Alter BP, Stratakis CA: Endocrine Abnormalities in Patients with Fanconi Anemia. Journal of Clinical Endocrinology and Metabolism 92:2624-2631, 2007.

 

Giri N, Pitel PA, Green D, Alter BP: Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte-colony stimulating factor. British Journal of Haematology 138:815-817, 2007.

 

Hutson SP, Alter BP: Experiences of Siblings of Patients with Fanconi's Anemia. Pediatric Blood & Cancer 48:72-79, 2007.

 

Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, Dale DC: Neutrophil elastase mutations and risk of leukemia in severe congenital neutropenia. British Journal of Haematology 140:210-213, 2007.

 

Tamary H and Alter BP: Current Diagnosis of Inherited Bone Marrow Failure Syndromes. Pediatric Hematology and Oncology 24:87-99, 2007.

 

Al-Rahawan MM, Giri N, Alter BP: Intensive immunosuppression therapy for aplastic anemia associated with Dyskeratosis Congenita. International Journal of Hematology 83:275-276, 2006.

 

Alter BP: Inherited Forms of Aplastic Anemia: the Inherited Bone Marrow Failure Syndromes (IBMFS). In: Current Pediatric Therapy, 18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 938-941.

 

Alter BP: The Association between FANCD1/BRCA2 Mutations and Leukemia. British Journal of Haematology 133:446-448, 2006.

 

Bagby GC, Alter BP: Fanconi Anemia. Seminars in Hematology 43:147-156, 2006.

 

Braun M, Giri N, Alter BP and Cowen EW: Thrombocytopenia, multiple mucosal squamous cell cancers, and dyspigmentation. Journal of the American Academy of Dermatology 54:1056-1059, 2006.

 

Dale DC, Rosenberg PS, Alter BP: To the Editor: Lineage-specific hematopoietic growth factors. New England Journal of Medicine 355:526-527, 2006.

 

Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, Freedman MH, Donadieu J, Kannourakis G, Alter BP, Cham BP, Winkelstein J, Kinsey SE, Zeidler C, Welte K: The Severe Chronic Neutropenia International Registry: 10-year follow-up report. Supportive Cancer Therapy 3:220-231, 2006.

 

Giri N, Alter BP: Acquired Aplastic Anemia. In: Current Pediatric Therapy, 18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 942-944.

Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C Welte K, Dale DC: The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006; 107(12):4628-35.

Savage SA, Chanock SJ, Stewart BJ, Weksler BB, Alter BP: Mutations in the Reverse Transcriptase Component of Telomerase (TERT) in Patients with Bone Marrow Failure. Letter to the Editor. Blood Cells, Molecules, and Disease 37:134-136, 2006.

Alter BP, Lipton JM: Anemia, Fanconi. eMedicine Journal [serial online]. Updated, 2005.

Alter BP: Bone Marrow Failure: A Child Is Not Just a Small Adult (But an Adult May Have a Childhood Disease). Hematology (Am Soc Hematol Educ Program) 2005; 96-103.

Alter BP: Diamond-Blackfan Anemia: A “Cultural” Diagnosis. Blood 2005; 105:435-436.

Alter BP, Joenje H, Oostra AB, Pals G: Fanconi Anemia: Adult Head and Neck Cancer and Hematopoietic Mosaicism. Archives of Otolaryngology-Head & Neck Surgery 2005; 131:635-639.

Alter BP: Fanconi’s Anemia, transplantation, and cancer. Pediatric Transplantation 2005; 9 (Suppl. 7):81-86.

Rosenberg PS, Socié G, Alter BP, Gluckman E: Risk of squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 2005; 105:67-73.

Rosenberg PS, Alter BP, Socié G, Gluckman E: Secular Trends in Outcomes for Fanconi Anemia Patients Who Receive Transplants: Implications for Future Studies. Biology of Blood and Bone Marrow Transplantation 2005; 11:672-679.

Alter BP: Growth Hormone and the Risk of Malignancy. Pediatric Blood & Cancer 2004; 43:534-535.

Rosenberg PS, Huang Y, Alter BP: Individualized risk of adverse events in Fanconi anemia. Blood 2004; 104:350-355.

Tong BC, Dhir K, Ha PK, Westra WH, Alter BP, Sidransky D, Koch WM, Califano JA: Use of Single Nucleotide Polymorphism Arrays to Identify a Novel Region of Loss on Chromosome 6Q in Squamous Cell Carcinomas of the Oral Cavity. Head Neck - J Sci Spec 2004; 26 (4):345-352.

Velazquez I, Alter BP: Androgens and Liver Tumors: Fanconi’s Anemia and Non-Fanconi’s Conditions. American Journal of Hematology 2004; 77:257-267.

Alter BP, Lipton JM: Bone marrow failure syndromes. In: Rudolph's Pediatrics, 21st edition, Appleton Lange, Norwalk, CT, 2003, pp 1562-1567.

Alter BP: Cancer in Fanconi Anemia, 1927-2001. Cancer 2003; 97:425-440.

Alter BP, Greene MH, Velazquez I, Rosenberg PS: Cancer in Fanconia Anemia. Blood 2003; 101:2072-2073. (letter).

Alter BP and Elghetany MT: The CCC System – is it really the answer to pediatric MDS? Journal of Pediatric Hematology/Oncology 25: 426-427, 2003 (letter).

Alter BP: Diamond-Blackfan Anemia. The NORD Guide to Rare Disorders, Lippincott, Williams and Wilkins, Philadelphia, PA, 2003. p 365.

Alter BP: Inherited Bone Marrow Failure Syndromes. Nathan and Oski’s Hematology of Infancy and Childhood, sixth edition, DG Nathan, SH Orkin, AT Look, D Ginsburg, eds, WB Saunders Inc, Philadelphia, 2003, pp 280-365.

Alter BP, D’Andrea AD: Inherited Bone Marrow Failure Syndromes. Blood: Principles and Practice of Hematology, second edition, RI Handin, SE Lux, TP Stossel, eds, JB Lippincott, Philadelphia, PA, 2003, pp 209-272.

Alter BP: Fanconi Anemia. The NORD Guide to Rare Disorders, Lippincott, Williams and Wilkins, Philadelphia , PA, 2003. p 366.

Rosenberg PS, Greene MH, Alter BP: Cancer Incidence in persons with Fanconi anemia. Blood 2003; 101:822-826.

Alter BP: Bone marrow failure syndromes in children. Pediatric Clinics of North America 2002; 49:973-988.

Alter BP: Radiosensitivity in Fanconi’s anemia patients. Radiotherapy and Oncology 2002; 62:345-347.

Elghetany MT, Alter BP: p53 Protein Overexpression in Bone Marrow of Patients With Shwachman-Diamond Syndrome Has a Prevalence Similar to That of Patients With Refractory Anemia: Archives of Pathology and Laboratory Medicine 2002; 126:452-455.

Freedman MH, Alter BP: Malignant Myeloid Transformation in Congenital Forms of Neutropenia. Israeli Medical Association Journal 2002; 4:1011-1014.

Freedman MH and Alter BP: Risk of Myelodysplastic Syndrome and Acute Myeloid Leukemia in Congenital Neutropenias. Seminars in Hematology 2002; 39:128-133.

Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T. Shwachman-Diamond syndrome: Report from an international conference. Journal of Pediatrics 2002; 141:266-270.

Alter BP: Modern Review of Congenital Hypoplastic Anemia. Journal of Pediatric Hematology/Oncology 2001; 23:383-384.

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