Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD) (2010)
- Authors:
- Autor USP: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; GONADOTROFINAS (PRODUÇÃO;SECREÇÃO); DISTÚRBIOS DA FUNÇÃO SEXUAL; RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 74, n. suppl. 3, p. 207, res. P2-d2.691, 2010
- Conference titles: Annual meeting of the European Society for Pediatric Endocrinology (ESPE)
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ABNT
DOMENICE, Sorahia et al. Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 17 abr. 2024. , 2010 -
APA
Domenice, S., Santos, M. G., Machado, A. Z., Hohl, C. A., Gadelha, P. S., Brandão, M. P., et al. (2010). Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Domenice S, Santos MG, Machado AZ, Hohl CA, Gadelha PS, Brandão MP, Correa RV, Lando VS, Costa EMF, Mendonça BB. Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207.[citado 2024 abr. 17 ] -
Vancouver
Domenice S, Santos MG, Machado AZ, Hohl CA, Gadelha PS, Brandão MP, Correa RV, Lando VS, Costa EMF, Mendonça BB. Inactivating mutations in SF1 do not impair gonadotropin production in 46,XY patients with disorders of sex development (DSD). Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207.[citado 2024 abr. 17 ] - Variable ACTH-stimulated 17-Hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
- Absense of duplication on DAX1 gene in patients with 46,XY sex reversal
- Crescimento linear e estatura final em crianças com tumores adrenais predominantemente virilizantes
- Absense of inactivating mutations and deletions of DAX1 gene in SRY negative 46,XX sex-reversed patients
- Heterogeneidade clínica e molecular do hipogonadismo hipogonadotrófico (HH): importância da avaliação do sistema olfatório no diagnóstico diferencial
- Number of CAG repeats in Exon 1 of androgen receptor gene is not related to gender identity in adult patients with male psudohermaphroditism and male transexualism
- Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitibity syndrome in a brazilian cohort: five novel mutations in the androgen receptor gene
- Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- Reavaliação na idade adulta do diagnóstico da deficiência de GH (DGH) determinado na infância
- Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocius puberty
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