21450989

Source:http://linkedlifedata.com/resource/pubmed/id/21450989

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0086860, umls-concept:C1413784, umls-concept:C1418277, umls-concept:C1563716
pubmed:issue	6
pubmed:dateCreated	2011-5-23
pubmed:abstractText	Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/DK020595, http://linkedlifedata.com/resource/pubmed/grant/DK07011, http://linkedlifedata.com/resource/pubmed/grant/DK15070, http://linkedlifedata.com/resource/pubmed/grant/RR04999
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0375362
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins, http://linkedlifedata.com/resource/pubmed/chemical/NKX2-5 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/PAX8 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Paired Box Transcription Factors, http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	1945-7197
pubmed:author	pubmed-author:GrasbergerHelmutH, pubmed-author:HermannsPiaP, pubmed-author:PohlenzJoachimJ, pubmed-author:RefetoffSamuelS
pubmed:issnType	Electronic
pubmed:volume	96
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	E977-81
pubmed:meshHeading	pubmed-meshheading:21450989-Congenital Hypothyroidism, pubmed-meshheading:21450989-Female, pubmed-meshheading:21450989-Homeodomain Proteins, pubmed-meshheading:21450989-Humans, pubmed-meshheading:21450989-Mutation, pubmed-meshheading:21450989-Paired Box Transcription Factors, pubmed-meshheading:21450989-Promoter Regions, Genetic, pubmed-meshheading:21450989-Thyroid Dysgenesis, pubmed-meshheading:21450989-Transcription Factors
pubmed:year	2011
pubmed:articleTitle	Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
pubmed:affiliation	Department of Pediatrics, Johannes Gutenberg University Medical School, Langenbeckstrasse 1, D-55101 Mainz, Germany.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural