jmg.bmj21d
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...
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Online First
Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing ...
jmg.bmj7d
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 ...
jmg.bmj13d
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
Correspondence to Dr Rosanna Weksberg, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada; rweksb{at}sickkids.ca and Dr Brian Hon-Yin Chung, Department of ...
jmg.bmj10d
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration
Purpose To explore the molecular basis of familial, early onset, age-related macular degeneration (AMD) with diverse phenotypes, using whole exome sequencing (WES). Methods We performed WES on four ...
jmg.bmj8d
Clinical presentation in female patients with Fabry disease
Department of Paediatric Genetics, Edouard Herriot Hospital, 5 Place d’Arsonval, F69437 Lyon, Cedex 03, France Correspondence to: Dr Guffon, Department of Paediatric Genetics, Edouard Herriot Hospital ...
jmg.bmj6d
Annual Review of Genomics and Human Genetics
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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Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
Background: Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all ...
jmg.bmj10d
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...
jmg.bmj15d
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...
jmg.bmj8d
A molecular investigation of true dominance in Huntington’s disease
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...
jmg.bmj12d
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France. Spinal muscular atrophy (SMA) is characterised by ...