| | Case Reports Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome Ali Al Kaissi, Franz Grill, Hatem Safi, Maher Ben Ghachem, Farid Ben Chehida, and Klaus Klaushofer PMCID: PMC1774563 Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger Tönnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn, and Detlev Schindler PMCID: PMC1781429 Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report Michele Ceruti, Giuseppe Rodi, Giulia M Stella, Andrea Adami, Antonia Bolongaro, Aldo Baritussio, Ernesto Pozzi, and Maurizio Luisetti PMCID: PMC1845139 Alstrom syndrome (OMIM 203800): a case report and literature review Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, and Paul N Durrington PMCID: PMC2266715 Case Study Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy Eric Scott Sills, MJ Burns, Laurinda D Parker, Lisa P Carroll, Lisa L Kephart, CS Dyer, Peter R Papenhausen, and Jessica G Davis PMCID: PMC1803779 Commentary Loss-of-function genetic diseases and the concept of pharmaceutical targets Laurent Ségalat PMCID: PMC1936415 Research Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis) Heidi Johansen, Inger-Lise Andresen, Eva E Naess, and Kare Birger Hagen PMCID: PMC1838413 Reviews Hereditary chronic pancreatitis Jonas Rosendahl, Hans Bödeker, Joachim Mössner, and Niels Teich PMCID: PMC1774562 Essential thrombocythemia Jean B Brière PMCID: PMC1781427 Noonan syndrome Ineke van der Burgt PMCID: PMC1781428 Osteosarcoma (Osteogenic sarcoma) Piero Picci PMCID: PMC1794406 Cone rod dystrophies Christian P Hamel PMCID: PMC1808442 Holoprosencephaly Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, and Véronique David PMCID: PMC1802747 Neonatal diabetes mellitus: a disease linked to multiple mechanisms Michel Polak and Hélène Cavé PMCID: PMC1847805 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome Karine Morcel, Laure Camborieux, Programme de Recherches sur les Aplasies Müllériennes (PRAM), and Daniel Guerrier PMCID: PMC1832178 Cirrhotic cardiomyopathy Soon Koo Baik, Tamer R Fouad, and Samuel S Lee PMCID: PMC1847677 Inborn errors in the metabolism of glutathione Ellinor Ristoff and Agne Larsson PMCID: PMC1852094 Amelogenesis imperfecta Peter JM Crawford, Michael Aldred, and Agnes Bloch-Zupan PMCID: PMC1853073 Craniopharyngioma Matthew R Garnett, Stéphanie Puget, Jacques Grill, and Christian Sainte-Rose PMCID: PMC1855047 Pyoderma gangrenosum – a review Uwe Wollina PMCID: PMC1857704 Intestinal epithelial dysplasia (tufting enteropathy) Olivier Goulet, Julie Salomon, Frank Ruemmele, Natacha Patey-Mariaud de Serres, and Nicole Brousse PMCID: PMC1878471 Malignant hyperthermia Henry Rosenberg, Mark Davis, Danielle James, Neil Pollock, and Kathryn Stowell PMCID: PMC1867813 Paraneoplastic neurological syndromes Jérôme Honnorat and Jean-Christophe Antoine PMCID: PMC1868710 Hypoplastic left heart syndrome Jean Anne Connor and Ravi Thiagarajan PMCID: PMC1877799 Oesophageal atresia Lewis Spitz PMCID: PMC1884133 Central core disease Heinz Jungbluth PMCID: PMC1887524 Intrahepatic cholestasis of pregnancy Thomas Pusl and Ulrich Beuers PMCID: PMC1891276 Ellis-Van Creveld syndrome Geneviève Baujat and Martine Le Merrer PMCID: PMC1891277 Fibromuscular dysplasia Pierre-François Plouin, Jérôme Perdu, Agnès La Batide-Alanore, Pierre Boutouyrie, Anne-Paule Gimenez-Roqueplo, and Xavier Jeunemaitre PMCID: PMC1899482 Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene Olivier Rosmorduc and Raoul Poupon PMCID: PMC1910597 Multi-minicore Disease Heinz Jungbluth PMCID: PMC1947955 Ehlers-Danlos syndrome type IV Dominique P Germain PMCID: PMC1971255 Anorectal malformations Marc A Levitt and Alberto Peña PMCID: PMC1971061 Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis Philip R Cohen PMCID: PMC1963326 Acute graft versus host disease David A Jacobsohn and Georgia B Vogelsang PMCID: PMC2018687 Sotos syndrome Geneviève Baujat and Valérie Cormier-Daire PMCID: PMC2018686 Hypereosinophilic syndromes Florence E Roufosse, Michel Goldman, and Elie Cogan PMCID: PMC2045078 Idiopathic (primary) achalasia Farnoosh Farrokhi and Michael F Vaezi PMCID: PMC2040141 Hereditary sensory and autonomic neuropathies: types II, III, and IV Felicia B Axelrod and Gabrielle Gold-von Simson PMCID: PMC2098750 Hypophosphatasia Etienne Mornet PMCID: PMC2164941 Aorto-ventricular tunnel Roxane McKay PMCID: PMC2089057 Mowat-Wilson syndrome Livia Garavelli and Paola Cerruti Mainardi PMCID: PMC2174447 Oculocutaneous albinism Karen Grønskov, Jakob Ek, and Karen Brondum-Nielsen PMCID: PMC2211462 Myasthenia gravis Vern C Juel and Janice M Massey PMCID: PMC2211463 Arrhythmogenic right ventricular cardiomyopathy/dysplasia Gaetano Thiene, Domenico Corrado, and Cristina Basso PMCID: PMC2222049 Sarcoidosis Hilario Nunes, Diane Bouvry, Paul Soler, and Dominique Valeyre PMCID: PMC2169207 Anophthalmia and microphthalmia Amit S Verma and David R FitzPatrick PMCID: PMC2246098 Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome Rosa J Torres and Juan G Puig PMCID: PMC2234399 |
