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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
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Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...
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Can our understanding of epigenetics assist with primary prevention of congenital defects?
1 The Congenital Anomalies Research Centre (CIAC), Institute of Health Carlos III (ISCIII), Madrid, Spain 2 The CIBER de Enfermedades Raras (CIBERER)(Centre for Biomedical Research on Rare Diseases), ...
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Is growth hormone treatment beneficial or harmful in Costello syndrome?
1 Regional Genetic Service and University Department of Medical Genetics, Central Manchester and Manchester Children’s University Hospitals NHS Trust, Manchester, UK 2 Department of Endocrinology, ...
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Marshall-Smith syndrome: the expanding phenotype.
Clinical Genetics Unit, Birmingham Maternity Hospital, Edgbaston, UK. We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, ...
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Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus
Correspondence to Professor Zhiguang Zhou, Department of Metabolism and Endocrinology, Second Xiangya Hospital, Changsha 410011, China; zhouzhiguang{at}csu.edu.cn; Professor Zhiguo Xie, Department of ...
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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
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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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High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia. The breakpoints of seven interstitial deletions of the long arm of chromosome 16 and two ...
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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 ...
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Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation
Background: The 3243A→G MTTL1 mutation is the most common heteroplasmic mitochondrial DNA (mtDNA) mutation associated with disease. Previous studies have shown that the percentage of mutated mtDNA ...
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The Smith-Lemli-Opitz syndrome
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...