News

jmg.bmj1d
The first three mosaic cri du chat syndrome patients with two rearranged cell lines
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 ...
jmg.bmj1d
The genetics of inherited macular dystrophies
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
jmg.bmj1d
Angelman syndrome: a review of the clinical and genetic aspects
Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
jmg.bmj2d
Online First
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer ...
jmg.bmj7d
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
Correspondence to Professor Rebecca C Fitzgerald, MRC Cancer Unit, Hutchison/MRC Research Centre, University of Cambridge, Hills Road, Cambridge CB2 OXZ, UK; rcf29{at}MRC-CU.cam.ac.uk Increasing ...
jmg.bmj7d
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos ...
jmg.bmj7d
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...
jmg.bmj7d
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...
jmg.bmj2d
46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism
Victorian Clinical Genetics Service, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia Cytogenetic Services Victoria, 165 Burwood Road, Hawthorn, Victoria 3122 ...
jmg.bmj6d
The epidemiology of anotia and microtia.
We studied a large data set from three registries of congenital malformations (central-east France, Sweden, and California), a total of 954 cases, known chromosome anomalies excluded. The prevalence ...
jmg.bmj6d
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 ...