Two novel exonic and intronic mutations that predict abnormal splicing of the GHRH receptor (GHRHR) gene in patients with sporadic isolated GH deficiency (IGHD) (2001)
- Authors:
- Marui, Suemi - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP)
- Mendonca, Berenice Bilharinho de
- Estefan, Vivian - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP)
- Arnhold, Ivo Jorge Prado - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP)
- Autor USP: MENDONCA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Assunto: ENDOCRINOLOGIA
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2001
- Source:
- Título do periódico: Pediatric Research
- ISSN: 0031-3998
- Volume/Número/Paginação/Ano: v. 49, n. 4 pt. 2, p. 34 res. P2-198, 2001
- Conference titles: Annual Meeting of the Pediatric Academic Societies
-
ABNT
MARUI, Suemi et al. Two novel exonic and intronic mutations that predict abnormal splicing of the GHRH receptor (GHRHR) gene in patients with sporadic isolated GH deficiency (IGHD). Pediatric Research. Philadelphia: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 01 maio 2024. , 2001 -
APA
Marui, S., Mendonca, B. B. de, Estefan, V., & Arnhold, I. J. P. (2001). Two novel exonic and intronic mutations that predict abnormal splicing of the GHRH receptor (GHRHR) gene in patients with sporadic isolated GH deficiency (IGHD). Pediatric Research. Philadelphia: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Marui S, Mendonca BB de, Estefan V, Arnhold IJP. Two novel exonic and intronic mutations that predict abnormal splicing of the GHRH receptor (GHRHR) gene in patients with sporadic isolated GH deficiency (IGHD). Pediatric Research. 2001 ; 49( 4 pt. 2): 34 res. P2-198.[citado 2024 maio 01 ] -
Vancouver
Marui S, Mendonca BB de, Estefan V, Arnhold IJP. Two novel exonic and intronic mutations that predict abnormal splicing of the GHRH receptor (GHRHR) gene in patients with sporadic isolated GH deficiency (IGHD). Pediatric Research. 2001 ; 49( 4 pt. 2): 34 res. P2-198.[citado 2024 maio 01 ] - 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
- Clinical and molecular analysis of human reproductive disorders in brazilian patients
- Amenorréia primária causada por uma deficiência seletiva de FSH a uma mutação inativadora no gene da subunidade beta do FSH (FSH beta)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
