dc.contributor | Universidade Estadual Paulista (UNESP) | |
dc.contributor | Northwestern University | |
dc.date.accessioned | 2022-04-28T21:24:27Z | |
dc.date.accessioned | 2022-12-20T02:09:08Z | |
dc.date.available | 2022-04-28T21:24:27Z | |
dc.date.available | 2022-12-20T02:09:08Z | |
dc.date.created | 2022-04-28T21:24:27Z | |
dc.date.issued | 2010-01-01 | |
dc.identifier | Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 5, p. 482-487, 2010. | |
dc.identifier | 1677-9487 | |
dc.identifier | 0004-2730 | |
dc.identifier | http://hdl.handle.net/11449/226035 | |
dc.identifier | 10.1590/S0004-27302010000500009 | |
dc.identifier | 2-s2.0-77956809012 | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/5406165 | |
dc.description.abstract | Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. Copyright© ABE&M todos os direitos reservados. | |
dc.language | por | |
dc.relation | Arquivos Brasileiros de Endocrinologia e Metabologia | |
dc.source | Scopus | |
dc.subject | Análise mutacional do DNA | |
dc.subject | Deficiência hormonal hipofisária | |
dc.subject | Displasia septo-óptica | |
dc.subject | DNA mutational analysis | |
dc.subject | Pituitary hormonal deficiency | |
dc.subject | Septo-optic dysplasia | |
dc.title | Análise molecular dos genes PROP1 e HESX1 em pacientes com displasia septo-ótica e/ou deficiência hormonal hipofisária | |
dc.type | Artículos de revistas | |