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WEB2 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 ...
Angelman syndrome: a review of the clinical and genetic aspects
WEBAngelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop ...
WEBNov 17, 2020 · Combining evidence for and against pathogenicity for variants in cancer ... ... CanVIG- UK
The molecular basis of genetic dominance. - Journal of Medical …
WEBStudies of mutagenesis in many organisms indicate that the majority (over 90%) of mutations are recessive to wild type. If recessiveness represents the 'default' state, what are the distinguishing features that make a minority of mutations give rise to dominant or semidominant characters? This review draws on the rapid expansion in knowledge of molecular and cellular biology to classify the ...
Mutation analysis of the lamin A/C gene
WEBLaminopathies represent a heterogeneous group of genetic disorders characterised by mutations in the LMNA gene, which encodes two lamins, A and C, by alternative splicing of the primary transcript.1 Lamins belong to the intermediate filament multigene family and form the nuclear lamina, a mesh-like structure adjacent to the nucleoplasmic side of the inner nuclear membrane.2 They interact with ...
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 ...
Survival in trisomy 13 and trisomy 18 cases ascertained from …
WEBA lthough long term survivors are well documented, infants with the autosomal trisomies 18 (Edwards syndrome) or 13 (Patau syndrome) usually die in the first few days or weeks of life. Accurate estimates of life expectancy are few, particularly in the case of trisomy 13. There have been six population surveys of survival in trisomy 18, comprising 430 unselected cases.1–6 In contrast there ...
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