A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis (2010)
- Authors:
- Autor USP: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; TRANSTORNOS GONADAIS (FISIOPATOLOGIA); DESENVOLVIMENTO PSICOSSEXUAL; POLIMORFISMO; GENES (ANÁLISE)
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 74, n. suppl. 1, p. 6, res. 17, 2010
- Conference titles: Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)
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ABNT
GOMES, C. R. et al. A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf. Acesso em: 10 nov. 2024. , 2010 -
APA
Gomes, C. R., Domenice, S., Mendonça, B. B., Arnhold, I. J. P., & Costa, E. M. F. (2010). A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf -
NLM
Gomes CR, Domenice S, Mendonça BB, Arnhold IJP, Costa EMF. A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis [Internet]. Hormone Research in Paediatrics. 2010 ; 74( suppl. 1): 6.[citado 2024 nov. 10 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf -
Vancouver
Gomes CR, Domenice S, Mendonça BB, Arnhold IJP, Costa EMF. A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis [Internet]. Hormone Research in Paediatrics. 2010 ; 74( suppl. 1): 6.[citado 2024 nov. 10 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf - Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- 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
- 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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