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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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20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA Dr S R Lalani, Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, ...
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Rett syndrome: clinical review and genetic update
1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...
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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 ...
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A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population
1 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan 2 Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan 3 Department of Preventive ...
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Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
OBJECTIVE To evaluate the frequency of pathogenic mtDNA transfer RNA mutations and deletions in biochemically demonstrable respiratory chain (RC) deficiencies in paediatric and adult patients. METHODS ...
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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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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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De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes
aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Augustenburger Platz 1, D-13353, Berlin, Germany, bDepartment of General ...
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Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements
OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN Searching published reports in ...
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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...
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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
1 Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Limburg, Netherlands 2 Department of Obstetrics & Gynaecology Maastricht University Medical Centre, Maastricht ...