jmg.bmj4d
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
The birth prevalence rates for the skeletal dysplasias.
This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative ...
jmg.bmj5d
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, ...
jmg.bmj5d
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
1 Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA 2 Molecular Graphics and ...
jmg.bmj7d
Multiregion whole-genome sequencing depicts intratumour heterogeneity and punctuated evolution in ovarian clear cell carcinoma
Background Ovarian clear cell carcinoma (OCCC) arises from endometriosis and represents a difficult-to-treat gynaecological malignancy, in part, because its spatial intratumour heterogeneity and ...
jmg.bmj7d
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation
Little is understood of the genotype/phenotype correlations in X linked glycerol kinase deficiency (GKD) where most cases are caused by extensive deletions of Xp21, which often include genes flanking ...
jmg.bmj7d
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.bmj8d
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.bmj8d
Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia
* Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton University NHS Hospitals Trust, Coxford Road, Southampton SO16 5YA, UK † Department of Paediatric Surgery, Southampton ...
jmg.bmj9d
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
Background Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker ...
jmg.bmj9d
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.bmj10d
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)
1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...