16170239

Source:http://linkedlifedata.com/resource/pubmed/id/16170239

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0002085, umls-concept:C0005789, umls-concept:C0011155, umls-concept:C0042333, umls-concept:C0175695, umls-concept:C0686907, umls-concept:C1855496, umls-concept:C1881036
pubmed:issue	7
pubmed:dateCreated	2005-9-19
pubmed:abstractText	We tested the hypothesis that Sotos syndrome (SoS) due to the common deletion is a contiguous gene syndrome incorporating plasma coagulation factor twelve (FXII) deficiency. The relationship between FXII activity and the genotype at a functional polymorphism of the FXII gene was investigated.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/HD 2406407, http://linkedlifedata.com/resource/pubmed/grant/P01 HD38420, http://linkedlifedata.com/resource/pubmed/grant/R01NS27042
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9815831
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Factor XII, http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides..., http://linkedlifedata.com/resource/pubmed/chemical/NSD1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	1098-3600
pubmed:author	pubmed-author:BrownChester WCW, pubmed-author:HöglundPiaP, pubmed-author:HaradaNaokiN, pubmed-author:KondohTatsuroT, pubmed-author:KurotakiNaohiroN, pubmed-author:LupskiJames RJR, pubmed-author:MakitaYoshioY, pubmed-author:NishimotoJunjiJ, pubmed-author:OkamotoNobuhikoN, pubmed-author:OzakiTakaoT, pubmed-author:RaskinSalmoS, pubmed-author:ShenJoseph JJJ, pubmed-author:ShiiharaTakashiT, pubmed-author:TouyamaMayumiM, pubmed-author:UetakeKimiakiK, pubmed-author:VisserRemcoR
pubmed:issnType	Print
pubmed:volume	7
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	479-83
pubmed:dateRevised	2008-11-21
pubmed:meshHeading	pubmed-meshheading:16170239-Adolescent, pubmed-meshheading:16170239-Adult, pubmed-meshheading:16170239-Child, pubmed-meshheading:16170239-Child, Preschool, pubmed-meshheading:16170239-Chromosome Deletion, pubmed-meshheading:16170239-Factor XII, pubmed-meshheading:16170239-Factor XII Deficiency, pubmed-meshheading:16170239-Female, pubmed-meshheading:16170239-Genetic Variation, pubmed-meshheading:16170239-Humans, pubmed-meshheading:16170239-In Situ Hybridization, pubmed-meshheading:16170239-Infant, pubmed-meshheading:16170239-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:16170239-Male, pubmed-meshheading:16170239-Nuclear Proteins, pubmed-meshheading:16170239-Phenotype, pubmed-meshheading:16170239-Point Mutation, pubmed-meshheading:16170239-Syndrome
pubmed:year	2005
pubmed:articleTitle	Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
pubmed:affiliation	Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural