Special collections

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, Beate Niesler

Journal of Medical Genetics May 2007, 44 (5) 306-313; DOI: 10.1136/jmg.2006.046581
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease
M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets

Journal of Medical Genetics Apr 2007, 44 (4) e74; DOI: 10.1136/jmg.2006.045716
X-linked retinoschisis: an update
Stephen K Sikkink, Susmito Biswas, Neil R A Parry, Paulo E Stanga, Dorothy Trump

Journal of Medical Genetics Apr 2007, 44 (4) 225-232; DOI: 10.1136/jmg.2006.047340
Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease
Albert K Luo, Brian K Jefferson, Mario J Garcia, Geoffrey S Ginsburg, Eric J Topol

Journal of Medical Genetics Mar 2007, 44 (3) 161-165; DOI: 10.1136/jmg.2006.045732
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, M Abitbol

Journal of Medical Genetics Mar 2007, 44 (3) e70; DOI: 10.1136/jmg.2006.044511
Development of a genotyping microarray for Usher syndrome
Frans P M Cremers, William J Kimberling, Maigi Külm, Arjan P de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W R J Cremers, Lies H Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes C Fleischhauer, Wolfgang Berger, Phil M Kelley, Elene Haralambous, Maria Bitner-Glindzicz, Andrew R Webster, Zubin Saihan, Elfride De Baere, Bart P Leroy, Giuliana Silvestri, Gareth J McKay, Robert K Koenekoop, Jose M Millan, Thomas Rosenberg, Tarja Joensuu, Eeva-Marja Sankila, Dominique Weil, Mike D Weston, Bernd Wissinger, Hannie Kremer

Journal of Medical Genetics Feb 2007, 44 (2) 153-160; DOI: 10.1136/jmg.2006.044784
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E Ferner, Susan M Huson, Nick Thomas, Celia Moss, Harry Willshaw, D Gareth Evans, Meena Upadhyaya, Richard Towers, Michael Gleeson, Christine Steiger, Amanda Kirby

Journal of Medical Genetics Feb 2007, 44 (2) 81-88; DOI: 10.1136/jmg.2006.045906
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
Daniela Rossi, Patrick De Smet, Alla Lyfenko, Lucia Galli, Stefania Lorenzini, Daniela Franci, Francesco Petrioli, Alfredo Orrico, Corrado Angelini, Vincenzo Tegazzin, Robert Dirksen, Vincenzo Sorrentino

Journal of Medical Genetics Feb 2007, 44 (2) e67; DOI: 10.1136/jmg.2006.043794
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Blanche P Alter, Philip S Rosenberg, Lawrence C Brody

Journal of Medical Genetics Jan 2007, 44 (1) 1-9; DOI: 10.1136/jmg.2006.043257
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino

Journal of Medical Genetics Dec 2006, 43 (12) e58; DOI: 10.1136/jmg.2006.043315

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