LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultra...

Alteraçöes somáticas, hereditárias ou congênitas de funçäo tiróidea associadas a mutaçöes no receptor de TSH
Hereditary or congenital somatic changes of the thyroid function associated to mutation in the TSH receptor

Medeiros Neto, Geraldo.

Arq. bras. endocrinol. metab; 40 (1), 1996

As mutaçoes no receptor de TSH condicionam dois tipos de resposta fenótípica com quadro de hipotireoidismo/eutireoidismo (resistência da célula folicular ao TSH) ou hipertireoidismo (adenoma tóxico, tireotoxicose familiar ou congênita). Na ausência de resposta da célula tireóidea ao TSH nao há...

Receptores de Tirotropina/genética, Hipertiroidismo/congénito, Hipertiroidismo/fisiopatología, Hipertiroidismo/genética, Hipotiroidismo/congénito, Hipotiroidismo/fisiopatología, Hipotiroidismo/genética, Receptores de Tirotropina/metabolismo, Fenotipo, Linaje

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

Alteraçöes somáticas, hereditárias ou congênitas de funçäo tiróidea associadas a mutaçöes no receptor de TSH Hereditary or congenital somatic changes of the thyroid function associated to mutation in the TSH receptor

Alteraçöes somáticas, hereditárias ou congênitas de funçäo tiróidea associadas a mutaçöes no receptor de TSH
Hereditary or congenital somatic changes of the thyroid function associated to mutation in the TSH receptor