Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD) (2008)
- Authors:
- Autor USP: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; HORMÔNIO DO CRESCIMENTO (ANORMALIDADES); RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone Research
- Volume/Número/Paginação/Ano: v. 70, suppl. 1, p. 20, res. P1-d3-301, 2008
- Conference titles: European Society for Paediatric Endocrinology (ESPE)
-
ABNT
CARVALHO, Luciani et al. Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 23 abr. 2024. , 2008 -
APA
Carvalho, L., Jorge, A., Martin, R. M., Franca, M. C., Mendonça, B. B., Costalongo, E. F., et al. (2008). Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Carvalho L, Jorge A, Martin RM, Franca MC, Mendonça BB, Costalongo EF, Montenegro LR, Arnhold IJP. Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. 2008 ; 70 20.[citado 2024 abr. 23 ] -
Vancouver
Carvalho L, Jorge A, Martin RM, Franca MC, Mendonça BB, Costalongo EF, Montenegro LR, Arnhold IJP. Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. 2008 ; 70 20.[citado 2024 abr. 23 ] - 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
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
