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dc.provenanceCONICET-
dc.creatorWit, J. M.-
dc.creatorVan Duyvenvoorde, H. A.-
dc.creatorScheltinga, S. A.-
dc.creatorDe Bruin, S.-
dc.creatorHafkenscheid, L.-
dc.creatorKant, S. G.-
dc.creatorRuivenkamp, C. A. L.-
dc.creatorGijsbers, A. C. J.-
dc.creatorVan Doorn, J.-
dc.creatorFeigerlova, E.-
dc.creatorNoordam, C.-
dc.creatorWalenkamp, M. J.-
dc.creatorClaahsen-Van De Grinten, H.-
dc.creatorStouthart, P.-
dc.creatorBonapart, I. E.-
dc.creatorPereira, A. M.-
dc.creatorGosen, J.-
dc.creatorDelemarre-Van De Waal, H.A.-
dc.creatorHwa, V.-
dc.creatorBreuning, M.H.-
dc.creatorDomene, Horacio Mario-
dc.creatorOostdijk, W.-
dc.creatorLosekoot, M.-
dc.date2019-01-10T15:12:18Z-
dc.date2019-01-10T15:12:18Z-
dc.date2012-06-
dc.date2019-01-09T17:46:50Z-
dc.date.accessioned2019-04-29T15:44:47Z-
dc.date.available2019-04-29T15:44:47Z-
dc.date.issued2012-06-
dc.identifierWit, J. M.; Van Duyvenvoorde, H. A.; Scheltinga, S. A.; De Bruin, S.; Hafkenscheid, L.; et al.; Genetic analysis of short children with apparent growth hormone insensitivity; Karger; Hormone Research in Paediatrics; 77; 5; 6-2012; 320-333-
dc.identifier1663-2826-
dc.identifierhttp://hdl.handle.net/11336/67887-
dc.identifierCONICET Digital-
dc.identifierCONICET-
dc.identifier.urihttp://rodna.bn.gov.ar:8080/jspui/handle/bnmm/300946-
dc.descriptionBackground/Aims: In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children with GH insensitivity. Subjects and Methods: Patients were divided into three groups: group 1 (height SDS <-2.5, IGF-I <-2 SDS, n = 9), group 2 (height SDS -2.5 to -1.9, IGF-I <-2 SDS, n = 6) and group 3 (height SDS <-1.9, IGF-I -2 to 0 SDS, n = 21). An IGF-I generation test was performed in 11 patients. Genomic DNA was used for direct sequencing, multiplex ligation-dependent probe amplification and whole-genome SNP array analysis. Results: Three patients in group 1 had two novel heterozygous STAT5B mutations, in two combined with novel IGFALS variants. In groups 2 and 3 the association between genetic variants and short stature was uncertain. The IGF-I generation test was not predictive for the growth response to GH treatment. Conclusion: In severely short children with IGF-I deficiency, genetic assessment is advised. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with GH insensitivity. In children with less severe short stature or IGF-I deficiency, functional variants are rare. Copyright © 2012 S. Karger AG, Basel.-
dc.descriptionFil: Wit, J. M.. Leiden University; Países Bajos-
dc.descriptionFil: Van Duyvenvoorde, H. A.. Leiden University; Países Bajos-
dc.descriptionFil: Scheltinga, S. A.. Leiden University; Países Bajos-
dc.descriptionFil: De Bruin, S.. Leiden University; Países Bajos-
dc.descriptionFil: Hafkenscheid, L.. Leiden University; Países Bajos-
dc.descriptionFil: Kant, S. G.. Leiden University; Países Bajos-
dc.descriptionFil: Ruivenkamp, C. A. L.. Leiden University; Países Bajos-
dc.descriptionFil: Gijsbers, A. C. J.. Leiden University; Países Bajos-
dc.descriptionFil: Van Doorn, J.. University Medical Center Utrecht; Países Bajos-
dc.descriptionFil: Feigerlova, E.. Oregon Health And Science University; Estados Unidos-
dc.descriptionFil: Noordam, C.. Radboud University Nijmegen Medical Centre; Países Bajos-
dc.descriptionFil: Walenkamp, M. J.. Vrije Universiteit; Países Bajos-
dc.descriptionFil: Claahsen-Van De Grinten, H.. Radboud University Nijmegen Medical Centre; Países Bajos-
dc.descriptionFil: Stouthart, P.. Orbis Medical Centre; Países Bajos-
dc.descriptionFil: Bonapart, I. E.. Venizelion General Hospital; Países Bajos-
dc.descriptionFil: Pereira, A. M.. Leiden University; Países Bajos-
dc.descriptionFil: Gosen, J.. Rijnland Hospital; Países Bajos-
dc.descriptionFil: Delemarre-Van De Waal, H.A.. Leiden University; Países Bajos-
dc.descriptionFil: Hwa, V.. Oregon Health And Science University; Estados Unidos-
dc.descriptionFil: Breuning, M.H.. Leiden University; Países Bajos-
dc.descriptionFil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina-
dc.descriptionFil: Oostdijk, W.. Leiden University; Países Bajos-
dc.descriptionFil: Losekoot, M.. Leiden University; Países Bajos-
dc.formatapplication/pdf-
dc.formatapplication/pdf-
dc.languageeng-
dc.publisherKarger-
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1159/000338462-
dc.relationinfo:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Abstract/338462-
dc.rightsinfo:eu-repo/semantics/restrictedAccess-
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/-
dc.sourcereponame:CONICET Digital (CONICET)-
dc.sourceinstname:Consejo Nacional de Investigaciones Científicas y Técnicas-
dc.sourceinstacron:CONICET-
dc.source.urihttp://hdl.handle.net/11336/67887-
dc.subjectACID-LABILE SUBUNIT-
dc.subjectGENETICS-
dc.subjectGH/IGF-1 AXIS-
dc.subjectGH1 GENE-
dc.subjectGROWTH DISORDERS-
dc.subjectGROWTH HORMONE-
dc.subjectGROWTH HORMONE RECEPTOR-
dc.subjectIGF-1-
dc.subjectSTAT5B-
dc.subjectMedicina Critica y de Emergencia-
dc.subjectMedicina Clínica-
dc.subjectCIENCIAS MÉDICAS Y DE LA SALUD-
dc.titleGenetic analysis of short children with apparent growth hormone insensitivity-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.typeinfo:ar-repo/semantics/articulo-
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