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Campo DC | Valor | Idioma |
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dc.contributor.author | Ribeiro Magalhaes, Patricia Kuenzle | - |
dc.contributor.author | Dare, Gustavo Leopoldo Rodrigues | - |
dc.contributor.author | dos Santos, Sandra Rodrigues | - |
dc.contributor.author | Nogueira, Célia Regina | - |
dc.contributor.author | de Castro, Margaret | - |
dc.contributor.author | Maciel, Lea Maria Zanini | - |
dc.date.accessioned | 2014-05-20T15:26:06Z | - |
dc.date.accessioned | 2016-10-25T18:00:40Z | - |
dc.date.available | 2014-05-20T15:26:06Z | - |
dc.date.available | 2016-10-25T18:00:40Z | - |
dc.date.issued | 2007-11-01 | - |
dc.identifier | http://dx.doi.org/10.1111/j.1365-2265.2007.02956.x | - |
dc.identifier.citation | Clinical Endocrinology. Oxford: Blackwell Publishing, v. 67, n. 5, p. 748-753, 2007. | - |
dc.identifier.issn | 0300-0664 | - |
dc.identifier.uri | http://hdl.handle.net/11449/36337 | - |
dc.identifier.uri | http://acervodigital.unesp.br/handle/11449/36337 | - |
dc.description.abstract | Objective Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of reduced tissue responsiveness to thyroid hormone usually due to mutations located in the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor beta (TR beta). In the present report we describe the clinical and laboratory characteristics and the genetic analysis of patients with this rare disorder from a Brazilian population.Patients Four unrelated Brazilian families with diagnosis of RTH were studied. Age at diagnosis varied from 14 months to 29 years.Results All affected individuals were clinically euthyroid, except for one patient who presented immediately after birth with hyperthyroidism. All individuals had tachycardia and goitre, elevated concentrations of free thyroid hormones and reduced sensitivity to thyroid hormone. Direct sequencing analysis of the TR beta gene revealed four previously reported mutations: c.949G -> A, c.1313G -> A, c.1357C -> A and c.1358dupC in families A, B, C and D, respectively.Conclusion the present report shows that the frequent mutations described in the thyroid hormone receptor worldwide are also present in the Brazilian population, which is characterized by a variable ethnic background. | en |
dc.format.extent | 748-753 | - |
dc.language.iso | eng | - |
dc.publisher | Blackwell Publishing | - |
dc.source | Web of Science | - |
dc.title | Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone | en |
dc.type | outro | - |
dc.contributor.institution | Universidade de São Paulo (USP) | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.description.affiliation | Univ São Paulo, Sch Med Ribeirao Preto, Dept Internal Med, Div Endocrinol, BR-14049900 Ribeirao Preto, Brazil | - |
dc.description.affiliation | UNESP, Sch Med Botucatu, Div Endocrinol, Botucatu, SP, Brazil | - |
dc.description.affiliationUnesp | UNESP, Sch Med Botucatu, Div Endocrinol, Botucatu, SP, Brazil | - |
dc.identifier.doi | 10.1111/j.1365-2265.2007.02956.x | - |
dc.identifier.wos | WOS:000250253000018 | - |
dc.rights.accessRights | Acesso restrito | - |
dc.relation.ispartof | Clinical Endocrinology | - |
Aparece nas coleções: | Artigos, TCCs, Teses e Dissertações da Unesp |
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