Endocrinology

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene
Merel S Ebberink, Janet Koster, Gepke Visser, Francjan van Spronsen, Irene Stolte-Dijkstra, G Peter A Smit, Johanna M Fock, Stephan Kemp, Ronald J A Wanders, Hans R Waterham

Journal of Medical Genetics May 2012, 49 (5) 307-313; DOI: 10.1136/jmedgenet-2012-100778
An SNX10 mutation causes malignant osteopetrosis of infancy
Memet Aker, Alex Rouvinski, Saar Hashavia, Asaf Ta-Shma, Avraham Shaag, Shamir Zenvirt, Shoshana Israel, Michael Weintraub, Albert Taraboulos, Zvi Bar-Shavit, Orly Elpeleg

Journal of Medical Genetics Apr 2012, 49 (4) 221-226; DOI: 10.1136/jmedgenet-2011-100520
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Hanan E Shamseldin, Muneera Alshammari, Tarfa Al-Sheddi, Mustafa A Salih, Hisham Alkhalidi, Amal Kentab, Gabriela M Repetto, Mais Hashem, Fowzan S Alkuraya

Journal of Medical Genetics Apr 2012, 49 (4) 234-241; DOI: 10.1136/jmedgenet-2012-100836
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
Ola Khalifa, Faiqa Imtiaz, Rabab Allam, Zuhair Al-Hassnan, Amal Al-Hemidan, Khalid Al-Mane, Gheid Abuharb, Ameera Balobaid, Nadia Sakati, James Hyland, Mohammed Al-Owain

Journal of Medical Genetics Apr 2012, 49 (4) 246-248; DOI: 10.1136/jmedgenet-2012-100783
Life expectancy in hereditary cancer predisposing diseases: an observational study
Anna Wilding, Sarah Louise Ingham, Fiona Lalloo, Tara Clancy, Susan M Huson, Anthony Moran, D Gareth Evans

Journal of Medical Genetics Apr 2012, 49 (4) 264-269; DOI: 10.1136/jmedgenet-2011-100562
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Derralynn A Hughes, Mia Malmenäs, Patrick B Deegan, Perry M Elliott, Lionel Ginsberg, Daniel Hajioff, Alex S Ioannidis, Catherine H Orteu, Uma Ramaswami, Michael West, Gregory M Pastores, Crispin Jenkinson

Journal of Medical Genetics Mar 2012, 49 (3) 212-220; DOI: 10.1136/jmedgenet-2011-100407
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna, Maïté Chassagne, Jennifer Ceresuela, Isabelle Rouvet, Sylvie Padet, Cécile Acquaviva, Serge Nataf, Stéphane Vinzio, Dominique Bozon, Bénédicte Mousson de Camaret

Journal of Medical Genetics Feb 2012, 49 (2) 146-150; DOI: 10.1136/jmedgenet-2011-100504
A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
Marlene D Dalgaard, Nils Weinhold, Daniel Edsgärd, Jeremy D Silver, Tune H Pers, John E Nielsen, Niels Jørgensen, Anders Juul, Thomas A Gerds, Aleksander Giwercman, Yvonne L Giwercman, Gabriella Cohn-Cedermark, Helena E Virtanen, Jorma Toppari, Gedske Daugaard, Thomas S Jensen, Søren Brunak, Ewa Rajpert-De Meyts, Niels E Skakkebæk, Henrik Leffers, Ramneek Gupta

Journal of Medical Genetics Jan 2012, 49 (1) 58-65; DOI: 10.1136/jmedgenet-2011-100174
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome
J P Lopez-Atalaya, C Gervasini, F Mottadelli, S Spena, M Piccione, G Scarano, A Selicorni, A Barco, L Larizza

Journal of Medical Genetics Jan 2012, 49 (1) 66-74; DOI: 10.1136/jmedgenet-2011-100354
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
B J C van den Bosch, M Gerards, W Sluiter, A P A Stegmann, E L C Jongen, D M E I Hellebrekers, R Oegema, E H Lambrichs, H Prokisch, K Danhauser, K Schoonderwoerd, I F M de Coo, H J M Smeets

Journal of Medical Genetics Jan 2012, 49 (1) 10-15; DOI: 10.1136/jmedgenet-2011-100466

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