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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
WEBAims and scope. 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 ...
Online First - Journal of Medical Genetics
WEB4 days ago · August 24, 2024. Neurogenetics. Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome. Jade Fauqueux, Simon Boussion, Caroline Thuillier, Evine Meurisse, Didier Lacombe, Marjolaine Willems, Amélie Piton, Emilie Ait-Yahya, Jamal Ghoumid, Thomas Smol. …
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 ...
Mutations in the FKRP gene can cause muscle-eye-brain disease …
WEBThe hypoglycosylation of α-dystroglycan is a new disease mechanism recently identified in four congenital muscular dystrophies (CMDs): Walker–Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama CMD (FCMD), and CMD type 1C (MDC1C).1 The underlying genetic defects in these disorders are mutations in known or putative glycosyltransferase enzymes, which among their targets probably ...
WEBGarrett A, et al. Med Genet 2020;0:1–8. doi:10.1136/jmedgenet-2020-107248 1 POSITION STATEMENT Combining evidence for and against pathogenicity for variants in ...
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 ...
Current status of human chromosome 14 - Journal of Medical …
WEBOver the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant ...
WEBMar 7, 2022 · Recommendation 1: identification of an SDHA PGV in an individual with an SDHA-associated tumour. When diagnostic genetic testing is undertaken in an individual with wtGIST, PPGL, renal cancer, neuroblastoma or pituitary tumour and a PGV identified, including SDHA c.91C>T p. (Arg31*), provided other causes have been excluded or …