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.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.bmj11d
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
2 Genetic Institute, Emek Medical Center, Rappaport School of Medicine, Technion, Haifa, Israel Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial ...
jmg.bmj1d
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.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.bmj12d
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is ...
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.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.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.bmj13d
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.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.bmj11d
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.