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WEB3 days ago · Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic ...
About - Journal of Medical Genetics
WEBThe Journal of Medical Genetics is an official journal of the Canadian College of Medical Geneticists. BMJ is a founding member of COPE (the Committee on Publication Ethics), which provides a forum for publishers and Editors of scientific journals to discuss issues relating to the integrity of the work submitted to or published in their journals.
Authors - Journal of Medical Genetics
WEBAuthors. Acceptance rate: 19%. Time to first decision with review: 46 days. Impact factor: 3.5. Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including ...
Haemochromatosis - Journal of Medical Genetics
WEBHereditary haemochromatosis is the most common genetic disorder in white people. Its prevalence exceeds the combined incidence of cystic fibrosis, muscular dystrophia, and phenylketonuria.1 The faulty haemochromatosis gene ( HFE ) (OMIM 235200) was discovered in 19962 and is localised on the short arm of chromosome 6. A single mutation, 845A (c845A; GenBank U60319 OMIM 235200.0001) in the HFE ...
WEBresults diagnostic BRCA1/2 testing in the Manchester series. Results were available on 4115 primary BRCA1/2 screens on non-Jewish individuals affected by either or both breast and ovarian cancer or another BRCA-related cancer (eg, pancreas, prostate). Pathology including at least grade of breast cancer was available on 2485/3511 (71%); hormone ...
Hereditary diffuse gastric cancer: updated clinical guidelines with …
WEBGermline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic testing, surgery, surveillance strategies, pathology reporting and the patient's perspective on multiple aspects, including diet post gastrectomy. The updated guidelines include revised CDH1 testing criteria ...
Overview of VACTERL association - Journal of Medical Genetics
WEBVACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L ...
Methodology in phenome-wide association studies: a systematic …
WEBPhenome-wide association study (PheWAS) has been increasingly used to identify novel genetic associations across a wide spectrum of phenotypes. This systematic review aims to summarise the PheWAS methodology, discuss the advantages and challenges of PheWAS, and provide potential implications for future PheWAS studies. Medical Literature Analysis and Retrieval System Online (MEDLINE) and ...
Inbreeding and risk of late onset complex disease
WEBInbreeding has been shown in almost all species to be associated with impairment of function because of homozygosity of recessive alleles. This occurs across a wide range of traits and suggests a large number of deleterious alleles in the human genome. This has been predicted from the reduced early survival of offspring in first cousin marriages and from similar results in other organisms.1 ...
Germline and somatic mosaicism in achondroplasia
WEBEditor—We describe a sib recurrence in achondroplasia with parents of normal stature. Both affected offspring carry the same causal mutation (G1138C) in the fibroblast growth factor receptor 3 ( FGFR3 ) gene. Despite having no clinical features of achondroplasia, a proportion of the mother's peripheral blood leucocytes also contained the mutant FGFR3 allele. We conclude she is a germline and ...
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