19346217

Source:http://linkedlifedata.com/resource/pubmed/id/19346217

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0079541, umls-concept:C0205210, umls-concept:C0542341, umls-concept:C0678920, umls-concept:C1707520, umls-concept:C2827424
pubmed:issue	6
pubmed:dateCreated	2009-6-2
pubmed:abstractText	Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain. There are several important HPE mutational target genes, including the transcription factor SIX3, which encodes an early regulator of Shh, Wnt, Bmp and Nodal signalling expressed in the developing forebrain and eyes of all vertebrates.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Sine oculis homeobox homolog 3...
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	1468-6244
pubmed:author	pubmed-author:BalogJ ZJZ, pubmed-author:BianchiD WDW, pubmed-author:BrunnerH GHG, pubmed-author:CareyJ CJC, pubmed-author:ChitayatDD, pubmed-author:ClarksonKK, pubmed-author:Clayton-SmithJJ, pubmed-author:CleggN JNJ, pubmed-author:DelgadoM RMR, pubmed-author:DobynsW BWB, pubmed-author:DomenéSS, pubmed-author:DonnaiDD, pubmed-author:El-JaickKK, pubmed-author:FryerAA, pubmed-author:HadleyDD, pubmed-author:HahnJJ, pubmed-author:HeikMM, pubmed-author:HennekamR C MRC, pubmed-author:HerbergsJJ, pubmed-author:JaneckeA RAR, pubmed-author:JuliussonP BPB, pubmed-author:LacbawanFF, pubmed-author:LevenRR, pubmed-author:LichtyAA, pubmed-author:LongRR, pubmed-author:MüsebeckJJ, pubmed-author:McDonald-McGinnD MDM, pubmed-author:McLeanS DSD, pubmed-author:MuenkeMM, pubmed-author:NjølstadP RPR, pubmed-author:OmarSS, pubmed-author:PaulussenAA, pubmed-author:PostraAA, pubmed-author:PotockiLL, pubmed-author:RoesslerEE, pubmed-author:Schrander-StumpelC T R MCT, pubmed-author:SmithWW, pubmed-author:SolomonB DBD, pubmed-author:StashinkoEE, pubmed-author:VélezJ IJI, pubmed-author:VanallenM IMI, pubmed-author:WieackerP FPF, pubmed-author:ZackaiE HEH, pubmed-author:ZhouNN, pubmed-author:van HaeringenAA, pubmed-author:van den BoogaardM-J HMJ
pubmed:issnType	Electronic
pubmed:volume	46
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	389-98
pubmed:meshHeading	pubmed-meshheading:19346217-Chi-Square Distribution, pubmed-meshheading:19346217-Cohort Studies, pubmed-meshheading:19346217-DNA Mutational Analysis, pubmed-meshheading:19346217-Eye Proteins, pubmed-meshheading:19346217-Female, pubmed-meshheading:19346217-Holoprosencephaly, pubmed-meshheading:19346217-Homeodomain Proteins, pubmed-meshheading:19346217-Humans, pubmed-meshheading:19346217-Male, pubmed-meshheading:19346217-Mutation, pubmed-meshheading:19346217-Nerve Tissue Proteins, pubmed-meshheading:19346217-Penetrance, pubmed-meshheading:19346217-Phenotype, pubmed-meshheading:19346217-Sex Factors
pubmed:year	2009
pubmed:articleTitle	Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
pubmed:affiliation	Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Building 35, Room 1B-203, Bethesda, MD 20892-3717, USA.
pubmed:publicationType	Journal Article, Research Support, N.I.H., Intramural