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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 ...
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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 ...
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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, ...
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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 ...
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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 ...
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Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
Background Copy number variants (CNVs) associated with late-onset medical conditions are rare but important secondary findings in chromosomal microarray analysis (CMA) performed during pregnancy. Here ...
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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 ...
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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 ...
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Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and ultimately fatal disorder for which there is no cure. While the disease is by definition idiopathic, accumulating evidence, including ...
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Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...
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The molecular genetics of Marfan syndrome and related microfibrillopathies
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...