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WEB4 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 ...
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 ...
WEBNov 17, 2020 · Combining evidence for and against pathogenicity for variants in cancer ... ... CanVIG- UK
Guidelines for the clinical management of Lynch syndrome …
WEBLynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2 . The discovery of these genes, 15 years ago, has led to the identification of large numbers of affected families. In April 2006, a workshop ...
Clinical spectrum and pleiotropic nature of CDH1 germline …
WEBIllustration of E-cadherin pleiotropic effects. CDH1 germline mutations, inducing loss of E-cadherin expression and function, can result in hereditary cancer or congenital malformations. Diseases such as diffuse gastric cancer and lobular breast cancer, as well as cleft lip/palate and the blepharocheilodontic syndrome, constitute the clinical ...
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 ...
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 ...
Episodic ataxia and hemiplegia caused by the 8993T→C …
WEBThe m.8993T→C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults, is usually normal in patients with MTATP6 mutations. This raises the ...
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