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Hirschsprung disease, associated syndromes, and genetics: a review
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 ...
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Angelman syndrome: a review of the clinical and genetic aspects
Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
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The genetics of inherited macular dystrophies
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...
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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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BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours ...
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5p14 deletion associated with microcephaly and seizures
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...
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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Background This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online ...
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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location
a Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK, b Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, ...
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines
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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Chromosomal radiosensitivity of lymphocytes from Alzheimer's disease patients.
Department of Optometry and Vision Sciences, UMIST, Manchester. We have examined chromosome aberrations in gamma irradiated (3 Gy) lymphocytes from five patients with Alzheimer's disease (AD). In each ...
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The heritability of high myopia: a reanalysis of Goldschmidt's data
*Department of Optometry and Vision Sciences, University of Wales, Redwood Building, King Edward VII Avenue, PO Box 905, Cardiff CF1 3XF, UK †Department of Psychological Medicine, University of Wales, ...