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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA Correspondence to: Dr V P Sybert, Box 356524, Division of Dermatology, University of Washington School of Medicine ...
jmg.bmj17 小时
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein ...
Correspondence to Dr A Barco, Instituto de Neurociencias de Alicante (Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas), Campus de Sant Joan, Apt. 18, Sant Joan d'Alacant ...
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Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 ...
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...
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Germline E-cadherin mutations in familial lobular breast cancer
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Results: A novel germline CDH1 truncating mutation in the extracellular portion of ...
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De novo mtDNA point mutations are common and have a low recurrence risk
4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...
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The impact of proband mediated information dissemination in families with a BRCA1/2 gene ...
1 Family Cancer Clinic, AZ-VUB, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Jette, Belgium 2 Department of Medical Oncology, AZ-VUB, Vrije Universiteit Brussel, Belgium 3 Department of Cancer ...
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Pathology update to the Manchester Scoring System based on testing in over 4000 families
Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...
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Under-recognised neurocognitive deficits in adults and adolescents with tuberous sclerosis ...
Background Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to ...
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Bayesian approach to determining penetrance of pathogenic SDH variants
Background Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in ...
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A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with ...
2 Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA 3 Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA 8 ...
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Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
2 College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China Background A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening ...
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Human Evolutionary Genetics: Origins, Peoples & Disease
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