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An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta
3 Department of Paediatric Dentistry, Eastman Dental Institute for Oral Health Care Sciences, University College London, 256 Gray’s Inn Road, London WC1X 8LD, UK 4 Institute of Child Health, ...
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Phenome-wide association study maps new diseases to the human major histocompatibility complex region
1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...
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‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects
Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to ...
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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...
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A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois, USA Objective: A pilot open label, single dose trial of fenobam, an mGluR5 antagonist ...
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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 ...
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The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading
Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...
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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 ...
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
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A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
1 Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia 2 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ...
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Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
Correspondence to Dr Georgios Koutsis, Neurogenetics Unit, 1st Department of Neurology, National and Kapodistrian University of Athens, Eginition University Hospital, Athens 11528, Greece; gkoutsi2{at ...