Background Mainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
Dr D Craig, Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queen’s University Belfast, Whitla Medical Building, 97 Lisburn Road, Belfast BT9 7BL, Northern Ireland; ...
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 ...
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...
Phenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS ...
5 Experimental and Molecular Cardiology Group, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, and The Netherlands Interuniversity Cardiologic Institute (ICIN), Catharijnesingel 52, 3501 ...
Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives ...
a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...
3 Institute for Immunology & Infectious Diseases, Murdoch University, Perth, Australia 4 Centre for Comparative Genomics, Murdoch University, Perth, Australia Correspondence to Professor Steve D ...
Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, ...
Correspondence to Dr Ben J H M Poorthuis, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Room F0-220, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; ...
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