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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2009-9-7
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pubmed:abstractText |
It is estimated that 3-30% of cases with isolated GH deficiency (IGHD) have a genetic etiology, with a number of mutations being reported in GH1 and GHRHR. The aim of our study was to genetically characterize a cohort of patients with congenital IGHD and analyze their characteristics.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/HESX1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Human Growth Hormone,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Neuropeptide,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Pituitary...,
http://linkedlifedata.com/resource/pubmed/chemical/SOX3 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SOXB1 Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/somatotropin releasing hormone...
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1945-7197
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pubmed:author |
pubmed-author:AlatzoglouKyriaki SKS,
pubmed-author:AylwinSimonS,
pubmed-author:BanerjeeKausikK,
pubmed-author:BraunerRajaR,
pubmed-author:BuchananCharlesC,
pubmed-author:CheethamTimothy DTD,
pubmed-author:ChristesenHenrik THT,
pubmed-author:ClaytonPeter EPE,
pubmed-author:CrowneElisabeth CEC,
pubmed-author:DattaniMehul TMT,
pubmed-author:HertelNiels TNT,
pubmed-author:HindmarshPeter CPC,
pubmed-author:KelbermanDanielD,
pubmed-author:MehtaAmeetaA,
pubmed-author:MullisPrimus EPE,
pubmed-author:MushtaqTalatT,
pubmed-author:RazaJamalJ,
pubmed-author:SavageMartin OMO,
pubmed-author:SinhaSunil KSK,
pubmed-author:TenSvetlanaS,
pubmed-author:TrainerPeter JPJ,
pubmed-author:TurtonJames PJP
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pubmed:issnType |
Electronic
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3191-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19567534-Adolescent,
pubmed-meshheading:19567534-Child,
pubmed-meshheading:19567534-Child, Preschool,
pubmed-meshheading:19567534-Cohort Studies,
pubmed-meshheading:19567534-Genetic Testing,
pubmed-meshheading:19567534-Homeodomain Proteins,
pubmed-meshheading:19567534-Human Growth Hormone,
pubmed-meshheading:19567534-Humans,
pubmed-meshheading:19567534-Infant,
pubmed-meshheading:19567534-Locus Control Region,
pubmed-meshheading:19567534-Mutation,
pubmed-meshheading:19567534-Pedigree,
pubmed-meshheading:19567534-Receptors, Neuropeptide,
pubmed-meshheading:19567534-Receptors, Pituitary Hormone-Regulating Hormone,
pubmed-meshheading:19567534-SOXB1 Transcription Factors
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pubmed:year |
2009
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pubmed:articleTitle |
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
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pubmed:affiliation |
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom.
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pubmed:publicationType |
Journal Article
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