Search Results - "Clara, Sueli A"
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Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency
Published in Arquivos brasileiros de endocrinologia e metabologia (2010)“…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…”
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Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing
Published in Arquivos brasileiros de endocrinologia e metabologia (01-12-2007)“…The two index patients of the family analyzed in this study had undergone bilateral adrenalectomy for pheochromocytomas. This prompted genetic analyses of the…”
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Genetic aspects in congenital hypothyrodism
Published in Arquivos brasileiros de endocrinologia e metabologia (01-02-2004)“…Congenital hypothyroidism (CH) affects between 1:3,000 and 1:4,000 newborns. Many genes are essential for normal development of the…”
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Aspectos genéticos do hipotireoidismo congênito
Published in Arquivos brasileiros de endocrinologia e metabologia (01-02-2004)“…Hipotireoidismo congênito (HC) afeta cerca de 1:3000 a 1:4000 recém-nascidos (RN). Numerosos genes são essenciais, tanto para o desenvolvimento normal do eixo…”
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Journal Article -
5
Aspectos genéticos do hipotireoidismo congênito
Published in Arquivos brasileiros de endocrinologia e metabologia (01-02-2004)“…Hipotireoidismo congênito (HC) afeta cerca de 1:3000 a 1:4000 recém-nascidos (RN). Numerosos genes são essenciais, tanto para o desenvolvimento normal do eixo…”
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Journal Article