News

jmg.bmj2d
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome
1 Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK 2 Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle ...
jmg.bmj2d
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort
1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...
jmg.bmj11d
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints
1 Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany 2 Institute of Pathology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, D-20251 ...
jmg.bmj1d
Channelopathies: ion channel defects linked to heritable clinical disorders
Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...
jmg.bmj10d
Chromosome 2 (2p16) abnormalities in Carney complex tumours
1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...
jmg.bmj2d
Dysmorphic sibs trisomic for the region 6q22.1→6q23.3
*Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074, Republic of Singapore †National University Medical Institutes, Faculty of ...
jmg.bmj5d
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
*Department of Medical Genetics, Haartman Institute, PO Box 21 (Haartmaninkatu 3), FIN-00014 University of Helsinki, Helsinki, Finland †Finnish Genome Centre, PO Box 21 (Tukholmankatu 2), FIN-00014 ...
jmg.bmj12d
Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population
2 Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands 3 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands 4 Department of Ophthalmology, ...
jmg.bmj8d
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...
jmg.bmj8d
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...
jmg.bmj9d
Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...