Statements in which the resource exists.
SubjectPredicateObjectContext
pubmed-article:19477666rdf:typepubmed:Citationlld:pubmed
pubmed-article:19477666lifeskim:mentionsumls-concept:C0038454lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C0439660lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C0009333lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C0026882lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C1837352lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C0302892lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C1413582lld:lifeskim
pubmed-article:19477666lifeskim:mentionsumls-concept:C0678227lld:lifeskim
pubmed-article:19477666pubmed:issue2lld:pubmed
pubmed-article:19477666pubmed:dateCreated2010-2-15lld:pubmed
pubmed-article:19477666pubmed:abstractTextWe describe a three generation family with recurrent strokes and cataracts. The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later. His mother had long standing episodic headaches diagnosed as migraine. Grandmother was initially diagnosed with multiple sclerosis and had recurrent strokes at age 18 years and 49 years. MRI scanning showed a diffuse leukoencephalopathy with microhaemorrhages in all three individuals. All of the family members had cataracts but did not have retinal arterial changes. Sequence analysis of COL4A1 revealed the heterozygous missense mutation c.2263G-->A in exon 30, responsible for a glycine-to-arginine substitution (p.Gly755Arg) in both the index case and mother. Grandmother died at the age of 73 years and DNA analysis was not possible. Mutation in COL4A1 should be considered in families with a history of autosomal dominant cerebral vasculopathy, even in the absence of porencephaly.lld:pubmed
pubmed-article:19477666pubmed:languageenglld:pubmed
pubmed-article:19477666pubmed:journalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:19477666pubmed:citationSubsetIMlld:pubmed
pubmed-article:19477666pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:19477666pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:19477666pubmed:chemicalhttp://linkedlifedata.com/r...lld:pubmed
pubmed-article:19477666pubmed:statusMEDLINElld:pubmed
pubmed-article:19477666pubmed:monthMarlld:pubmed
pubmed-article:19477666pubmed:issn1532-2130lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:StoodleyNeilNlld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:RizzuPatrizia...lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:McLeanBrendan...lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:ChurchillAman...lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:KumarYadlapal...lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:JardinePhilip...lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:RankinJuliaJlld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:ShahSiddharth...lld:pubmed
pubmed-article:19477666pubmed:authorpubmed-author:van der...lld:pubmed
pubmed-article:19477666pubmed:copyrightInfo2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.lld:pubmed
pubmed-article:19477666pubmed:issnTypeElectroniclld:pubmed
pubmed-article:19477666pubmed:volume14lld:pubmed
pubmed-article:19477666pubmed:ownerNLMlld:pubmed
pubmed-article:19477666pubmed:authorsCompleteYlld:pubmed
pubmed-article:19477666pubmed:pagination182-7lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:meshHeadingpubmed-meshheading:19477666...lld:pubmed
pubmed-article:19477666pubmed:year2010lld:pubmed
pubmed-article:19477666pubmed:articleTitleA dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.lld:pubmed
pubmed-article:19477666pubmed:affiliationDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, United Kingdom.lld:pubmed
pubmed-article:19477666pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:19477666pubmed:publicationTypeCase Reportslld:pubmed
entrez-gene:1282entrezgene:pubmedpubmed-article:19477666lld:entrezgene
http://linkedlifedata.com/r...entrezgene:pubmedpubmed-article:19477666lld:entrezgene
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:19477666lld:pubmed
http://linkedlifedata.com/r...pubmed:referesTopubmed-article:19477666lld:pubmed