Results 11 to 20 of about 14,255 (146)

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) [PDF]

Human Mutation, 2011
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS)
Joanna Amberger, Carol Bocchini, Ada Hamosh   +2 more
semanticscholar   +5 more sources

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders [PDF]

Nucleic Acids Res., 2004
Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
Ada Hamosh
openalex   +2 more sources

Online Mendelian Inheritance in Man OMIM: www.ncbi.nlm.nih.gov/entrez [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
This website is based on a definitive work on genetic disorders, Victor McKusick’s Mendelian Inheritance in Man. But whereas the book is now four years old, OMIM is updated daily—as of January 2003 it included 14 120 references, gaining more than 60 a month and revising a further 500. The site’s authors have reviewed the literature to provide a series
Matt Parton
openalex   +3 more sources

Lethal phenotypes in Mendelian disorders. [PDF]

Genet Med
Essential genes are those whose function is required for cell proliferation and/or organism survival. A gene's intolerance to loss-of-function can be allocated within a spectrum, as opposed to being considered a binary feature, since this function might ...
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D.   +8 more
europepmc   +2 more sources

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences11Accession numbers and URLs for data in this article are as follows: Online Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/omim. For TSC1 (MIM 191100) and TSC2 (MIM 191092). The Human Gene Mutation Data Base, Cardiff (HGMD): http://www.uwcm.acuk/uwcm/mg. For TSC1 120735 and for TSC2 120466. TSC Variation Database: http://www.expmed.bwh.harvard.edu/…

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2000
Disease causing aberrations in both tuberous sclerosis predisposing genes, TSC1 and TSC2, comprise nearly every type of alteration with a predominance of small truncating mutations distributed over both genes. We performed an RNA based screening of the entire coding regions of both TSC genes applying the protein truncation test (PTT) and identified a ...
Karin Mayer, Wolfgang G. Ballhausen, Werner Leistner, Hans‐Dieter Rott   +3 more
openalex   +4 more sources

Online Mendelian Inheritance in Man 'OMIM'.

Indian journal of dermatology, venereology and leprology, 2007
The skin is one of the commonest organ systems involved in genetic or inherited diseases. Genodermatoses, genetic syndromes, inherited skin diseases and also inflammatory or immunological disorders with a genetic basis occupy an important part of the dermatology curriculum.
Sangeeta Amladi
  +5 more sources

Corrections to: "Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database" [PDF]

Journal of Investigative Dermatology, 2010

openalex   +2 more sources

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3‐WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract Rodent models of epilepsy remain the cornerstone of research into the mechanisms underlying genetic epilepsy. Reproducibility of experiments using these rodent models, occurring across a diversity of laboratories and commercial vendors, remains an issue impacting the cost‐effectiveness and scientific rigor of the studies performed.
Massimo Mantegazza, Stėphane Auvin, Melissa Barker‐Haliski, Anna‐Maria Katsarou, Hana Kubova, Aristea S. Galanopoulou, Bridgette Semple, Christopher A. Reid   +7 more
wiley   +1 more source