Statements in which the resource exists.
SubjectPredicateObjectContext
pubmed-article:16575836rdf:typepubmed:Citationlld:pubmed
pubmed-article:16575836lifeskim:mentionsumls-concept:C2698903lld:lifeskim
pubmed-article:16575836lifeskim:mentionsumls-concept:C0026882lld:lifeskim
pubmed-article:16575836lifeskim:mentionsumls-concept:C0085280lld:lifeskim
pubmed-article:16575836lifeskim:mentionsumls-concept:C1416525lld:lifeskim
pubmed-article:16575836lifeskim:mentionsumls-concept:C1521828lld:lifeskim
pubmed-article:16575836lifeskim:mentionsumls-concept:C1513778lld:lifeskim
pubmed-article:16575836pubmed:issue5lld:pubmed
pubmed-article:16575836pubmed:dateCreated2006-4-25lld:pubmed
pubmed-article:16575836pubmed:databankReferencehttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:databankReferencehttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:abstractTextAlagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined patients, and using an aggressive and sequential screening approach we identified JAG1 mutations in 94% of individuals. Mutations were found in 232 out of 247 patients studied and 83 of the mutations were novel. This increase in the mutation rate was accomplished by combining rigorous clinical phenotyping, with a combination of mutation detection techniques, including fluorescence in situ hybridization (FISH), genomic and cDNA sequencing, and quantitative PCR. This higher rate of mutation identification has implications for clinical practice, facilitating genetic counseling, prenatal diagnosis, and evaluation of living-related liver transplant donors. Our results suggest that more aggressive screening may similarly increase the rate of mutation detection in other dominant and recessive disorders.lld:pubmed
pubmed-article:16575836pubmed:granthttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:granthttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:commentsCorrectionshttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:languageenglld:pubmed
pubmed-article:16575836pubmed:journalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:citationSubsetIMlld:pubmed
pubmed-article:16575836pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:16575836pubmed:statusMEDLINElld:pubmed
pubmed-article:16575836pubmed:monthMaylld:pubmed
pubmed-article:16575836pubmed:issn1098-1004lld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:MooreE CEClld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:SanchezPPlld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:SpinnerN BNBlld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:PiccoliD ADAlld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:KrantzI DIDlld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:KamathB MBMlld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:WarthenD MDMlld:pubmed
pubmed-article:16575836pubmed:authorpubmed-author:MorrissetteJ...lld:pubmed
pubmed-article:16575836pubmed:issnTypeElectroniclld:pubmed
pubmed-article:16575836pubmed:volume27lld:pubmed
pubmed-article:16575836pubmed:ownerNLMlld:pubmed
pubmed-article:16575836pubmed:authorsCompleteYlld:pubmed
pubmed-article:16575836pubmed:pagination436-43lld:pubmed
pubmed-article:16575836pubmed:dateRevised2009-11-19lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:meshHeadingpubmed-meshheading:16575836...lld:pubmed
pubmed-article:16575836pubmed:year2006lld:pubmed
pubmed-article:16575836pubmed:articleTitleJagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.lld:pubmed
pubmed-article:16575836pubmed:affiliationDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA.lld:pubmed
pubmed-article:16575836pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:16575836pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
pubmed-article:16575836pubmed:publicationTypeResearch Support, N.I.H., Extramurallld:pubmed
entrez-gene:182entrezgene:pubmedpubmed-article:16575836lld:entrezgene
http://linkedlifedata.com/r...entrezgene:pubmedpubmed-article:16575836lld:entrezgene
lhgdn:association:49348lhgdn:found_inpubmed-article:16575836lld:lhgdn
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:16575836lld:pubmed