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Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis
(SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIARIO DE JANEIRO, RJ, 2013-08-02)
Objectives: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. Subjects and methods: Patients underwent ultrasound, thyroid scan, ...
Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
(2016-02-01)
Background: The molecular basis underlying the development of thyroid dysgenesis remains largely unknown. The objective of this study was to analyze the PAX8 gene in 32 children with congenital hypothyroidism due to thyroid ...
Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations
(Bio Scientifica / European Society of Endocrinology, 2017)
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination
(JAPAN ENDOCRINE SOC, 2010)
Methods currently employed to establish the etiology of congenital hypothyroidism include thyroid ultrasound and scintigraphic exams. Thyroglobulin is a protein almost exclusively secreted by thyroid tissue and indirectly ...
Novos aspectos da genética e dos mecanismos moleculares da morfogênese da tiróide para o entendimento da disgenesia tiroidiana
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-12-01)
The elucidation of the molecular mechanisms underlying the very early steps of thyroid organogenesis and the etiology of most cases of thyroid dysgenesis are poorly understood. Many genes have been identified as important ...
Congenital hypothyroidism: A diagnosis not to forget
(2012)
Summary: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Since 1994, Chile has a national plan for mass screening all newborns to diagnose the disease. Currently, the CH incidence ...
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands
(Wiley Blackwell Publishing, Inc, 2008-05)
Context: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode. Objectives: The ...
Genética molecular do hipotireoidismo congênito
(Sociedade Brasileira de Endocrinologia e Metabologia, 2001-02-01)
O hipotireoidismo congênito (HC) ocorre, mundialmente, em 1/3000-4000 neonatos e pode ser classificado em permanente ou transitório. O HC primário é responsável pela maioria dos afetados, enquanto o secundário e terciário ...
Genética molecular do hipotireoidismo congênito
(Sociedade Brasileira de Endocrinologia e Metabologia, 2001-02-01)
O hipotireoidismo congênito (HC) ocorre, mundialmente, em 1/3000-4000 neonatos e pode ser classificado em permanente ou transitório. O HC primário é responsável pela maioria dos afetados, enquanto o secundário e terciário ...