jmg.bmj2d
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders
Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...
jmg.bmj3d
An investigation of ACE as a risk factor for dementia and cognitive decline in the general population
1 Department of Public Health and Primary Care, University Forvie Site, Robinson Way, Cambridge CB2 2SR, UK 2 Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC ...
jmg.bmj3d
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel
Correspondence to Prof. Pei-Rong Ding, Department of Colorectal Surgery, Sun Yat-sen University Cancer Center, Guangzhou, China; dingpr{at}sysucc.org.cn; Prof. Zhi-Zhong Pan, Department of Colorectal ...
jmg.bmj3d
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study
Background: Metabolic syndrome (MetS) is defined by a combination of abnormalities that are all individual risk factors for the development of type 2 diabetes and/or cardiovascular disease. The ...
jmg.bmj5d
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...
jmg.bmj6d
The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review
Initial reports of patients with laminin α2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle ...
jmg.bmj7d
The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism
1 Department of Pediatrics, Wayne State University, Detroit, MI 48201, USA 2 Department of Neurology, Wayne State University, Detroit, MI 48201, USA Correspondence to: Dr A H M Mahbubul Huq, Division ...
jmg.bmj8d
5p14 deletion associated with microcephaly and seizures
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...
jmg.bmj9d
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles
1 Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA 2 Department of Pediatrics, University of California Davis, School ...
jmg.bmj9d
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
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Correspondence to Professor Angela T Morgan, Speech and Language, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia; angela.morgan{at}mcri.edu.au Background Heterozygous ...
jmg.bmj11d
Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2
*Unit on Genetics and Endocrinology (UGEN), Developmental Endocrinology Branch, (DEB), National Institute of Child Health and Human Development (NICHD), Building 10, Room 10N262, 10 Center Drive, ...