Ausgabe 1/2007
Inhalt (49 Artikel)
Hereditary chronic pancreatitis
Jonas Rosendahl, Hans Bödeker, Joachim Mössner, Niels Teich
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, Klaus Klaushofer
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, Detlev Schindler
Holoprosencephaly
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David
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, Jessica G Davis
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, Kare Birger Hagen
Cardiac tumours in children
Orhan Uzun, Dirk G Wilson, Gordon M Vujanic, Jonathan M Parsons, Joseph V De Giovanni
Neonatal diabetes mellitus: a disease linked to multiple mechanisms
Michel Polak, Hélène Cavé
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Karine Morcel, Laure Camborieux, Daniel Guerrier
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, Maurizio Luisetti
Craniopharyngioma
Matthew R Garnett, Stéphanie Puget, Jacques Grill, Christian Sainte-Rose
Intestinal epithelial dysplasia (tufting enteropathy)
Olivier Goulet, Julie Salomon, Frank Ruemmele, Natacha Patey-Mariaud de Serres, Nicole Brousse
Malignant hyperthermia
Henry Rosenberg, Mark Davis, Danielle James, Neil Pollock, Kathryn Stowell
Fibromuscular dysplasia
Pierre-François Plouin, Jérôme Perdu, Agnès La Batide-Alanore, Pierre Boutouyrie, Anne-Paule Gimenez-Roqueplo, Xavier Jeunemaitre
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene
Olivier Rosmorduc, Raoul Poupon
Loss-of-function genetic diseases and the concept of pharmaceutical targets
Laurent Ségalat
Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis
Philip R Cohen
Hereditary sensory and autonomic neuropathies: types II, III, and IV
Felicia B Axelrod, Gabrielle Gold-von Simson
Arrhythmogenic right ventricular cardiomyopathy/dysplasia
Gaetano Thiene, Domenico Corrado, Cristina Basso
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Rosa J Torres, Juan G Puig
Alstrom syndrome (OMIM 203800): a case report and literature review
Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington