Frequency of molecular diagnosis in brazilian patients with 46,xy disorders of sexual development (DSD) (2007)
- Autores:
- Autor USP: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Assuntos: BIOLOGIA MOLECULAR; TRANSTORNOS GONADAIS; TESTOSTERONA (METABOLISMO); RESUMOS (SIMPÓSIOS)
- Idioma: Inglês
- Imprenta:
- Fonte:
- Nome do evento: Simpósio avanços em pesquisas médicas
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ABNT
DOMENICE, S. et al. Frequency of molecular diagnosis in brazilian patients with 46,xy disorders of sexual development (DSD). Clinics. São Paulo: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 18 abr. 2024. , 2007 -
APA
Domenice, S., Costa, E. M. F., Billerbeck, A. E., Mello, K., Correa, R., Nishi, M. Y., et al. (2007). Frequency of molecular diagnosis in brazilian patients with 46,xy disorders of sexual development (DSD). Clinics. São Paulo: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Domenice S, Costa EMF, Billerbeck AE, Mello K, Correa R, Nishi MY, Pinto EM, Gomes CR, Coletta RRD, Abreu AP, Brandão MP, Martin RM, Marui S, Latronico AC, Arnhold IJP, Mendonça BB de. Frequency of molecular diagnosis in brazilian patients with 46,xy disorders of sexual development (DSD). Clinics. 2007 ; 62 S86.[citado 2024 abr. 18 ] -
Vancouver
Domenice S, Costa EMF, Billerbeck AE, Mello K, Correa R, Nishi MY, Pinto EM, Gomes CR, Coletta RRD, Abreu AP, Brandão MP, Martin RM, Marui S, Latronico AC, Arnhold IJP, Mendonça BB de. Frequency of molecular diagnosis in brazilian patients with 46,xy disorders of sexual development (DSD). Clinics. 2007 ; 62 S86.[citado 2024 abr. 18 ] - 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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