jmg.bmj2d
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...
jmg.bmj2d
Wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease
OBJECTIVES Recent data suggest that wild type huntingtin can protect against apoptosis in the testis of mice expressing full length huntingtin transgenes with expanded CAG repeats. It is not clear if ...
jmg.bmj3d
Current Issue
Original research: National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy (28 November, 2024) ...
jmg.bmj3d
Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women
Background: Oxidative stress has been recently suggested to play a part in the development of osteoporosis. Catalase is a major antioxidant enzyme that detoxifies hydrogen peroxide by converting it ...
jmg.bmj3d
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients
1 Department of Medical Genetics, University of Cambridge and Addenbrooke’s NHS Hospital Trust, Cambridge, UK 2 Department of Ophthalmology, Addenbrooke’s NHS Hospital Trust, Cambridge, UK 3 ...
jmg.bmj4d
Genetics of skin appendage neoplasms and related syndromes
Department of Dermatology, Columbia University Medical Center, New York, USA Correspondence to: Dr Julide Tok Celebi Department of Dermatology, Columbia University, 630 West 168th Street, VC-15-202, ...
jmg.bmj5d
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
jmg.bmj5d
Prenatal testing for Huntington's disease: experience within the UK 1994-1998
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
jmg.bmj7d
Axenfeld-Rieger syndrome: more than meets the eye
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...
jmg.bmj7d
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)
1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...
jmg.bmj7d
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
Correspondence to Dr Arupa Ganguly, Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; ganguly{at}pennmedicine.upenn.edu; Dr Jennifer M Kalish ...