18166138

Source:http://linkedlifedata.com/resource/pubmed/id/18166138

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0008928, umls-concept:C0015127, umls-concept:C0015576, umls-concept:C0020507, umls-concept:C0027342, umls-concept:C0152035, umls-concept:C0205314, umls-concept:C0599155, umls-concept:C0679622, umls-concept:C0681842, umls-concept:C1148673, umls-concept:C1314792, umls-concept:C1419771
pubmed:dateCreated	2008-2-13
pubmed:abstractText	Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01CA58343
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-10068652, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-10521292, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-10545612, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-10689183, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-10722711, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11257229, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11327761, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11472838, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11668178, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11746020, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11768584, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11830488, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-11857736, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-12196916, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-12393679, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-12807882, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-12807883, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-12815605, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-12923053, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-14866482, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-15156188, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-15226309, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-15301373, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-15583032, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-15952089, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-9182764, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-9182765, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-9207800, http://linkedlifedata.com/resource/pubmed/commentcorrection/18166138-9434946
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/100968552
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Core Binding Factor Alpha 1 Subunit, http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RUNX2 protein, human
pubmed:status	MEDLINE
pubmed:issn	1471-2350
pubmed:author	pubmed-author:DuJichengJ, pubmed-author:HuangTaoshengT, pubmed-author:JiangYushengY, pubmed-author:SpeckNancyN, pubmed-author:TSAIG GGG, pubmed-author:TangShaohuaS, pubmed-author:WangXiaoqinX, pubmed-author:XuXueqinX, pubmed-author:YangXuemeiX
pubmed:issnType	Electronic
pubmed:volume	8
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	82
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:18166138-Adult, pubmed-meshheading:18166138-China, pubmed-meshheading:18166138-Cleidocranial Dysplasia, pubmed-meshheading:18166138-Core Binding Factor Alpha 1 Subunit, pubmed-meshheading:18166138-DNA-Binding Proteins, pubmed-meshheading:18166138-Female, pubmed-meshheading:18166138-Humans, pubmed-meshheading:18166138-Hyperplasia, pubmed-meshheading:18166138-Male, pubmed-meshheading:18166138-Mutation, Missense, pubmed-meshheading:18166138-Nails, Malformed, pubmed-meshheading:18166138-Pedigree
pubmed:year	2007
pubmed:articleTitle	A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.
pubmed:affiliation	The prenatal diagnostic Center of Wenzhou City, Department of genetics of Wenzhou No2 Hospital, Wenzhou, China. tsh006@163.com
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural