jmg.bmj5d
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, ...
jmg.bmj7d
‘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 ...
jmg.bmj3d
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 ...
jmg.bmj11d
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 ...
jmg.bmj6d
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.bmj13d
Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
Correspondence to Dr Thomas Folkmann Hansen, Danish Headache Center, Department of Neurology, Rigshospitalet Glostrup, Glostrup DK2600, Denmark; thomas.folkmann.hansen{at}regionh.dk Methods 2558 male ...
jmg.bmj11d
Online First
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex ...
jmg.bmj10d
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 ...
jmg.bmj7d
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 ...
jmg.bmj3d
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 ...
jmg.bmj5d
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.