Missense mutation a300v in the DAX1 gene in a Brazilian male with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism (2002)
- Authors:
- USP affiliated authors: MENDONCA, BERENICE BILHARINHO DE - FM ; VILLARES, SANDRA MARA FERREIRA - FM ; DOMENICE, SORAHIA - FM
- Unidade: FM
- Subjects: HIPOGONADISMO; GENES
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Case Report & Clinical Practice Review.
- ISSN: 1507-6164
- Volume/Número/Paginação/Ano: v. 3, n. 3, p. 144-147, 2002
-
ABNT
CORREA, Rafaela Vieira et al. Missense mutation a300v in the DAX1 gene in a Brazilian male with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Case Report & Clinical Practice Review., v. 3, n. 3, p. 144-147, 2002Tradução . . Disponível em: http://www.crcpr-online.com/pub/case/vol_3/no_3/2086.pdf. Acesso em: 24 abr. 2024. -
APA
Correa, R. V., Domenice, S., Estefan, V., Villares, S. M. F., & Mendonça, B. B. de. (2002). Missense mutation a300v in the DAX1 gene in a Brazilian male with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Case Report & Clinical Practice Review., 3( 3), 144-147. Recuperado de http://www.crcpr-online.com/pub/case/vol_3/no_3/2086.pdf -
NLM
Correa RV, Domenice S, Estefan V, Villares SMF, Mendonça BB de. Missense mutation a300v in the DAX1 gene in a Brazilian male with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism [Internet]. Case Report & Clinical Practice Review. 2002 ; 3( 3): 144-147.[citado 2024 abr. 24 ] Available from: http://www.crcpr-online.com/pub/case/vol_3/no_3/2086.pdf -
Vancouver
Correa RV, Domenice S, Estefan V, Villares SMF, Mendonça BB de. Missense mutation a300v in the DAX1 gene in a Brazilian male with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism [Internet]. Case Report & Clinical Practice Review. 2002 ; 3( 3): 144-147.[citado 2024 abr. 24 ] Available from: http://www.crcpr-online.com/pub/case/vol_3/no_3/2086.pdf - 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
- Microconversão no promotor do gene CYP21A2 envolvendo os sítios de ligação dos fatores de transcrição Sp1 e ASP: nova etiologia molecular da deficiência de 21-hidroxilase (21OHD)
- Three novel mutations in CYP21 gene in brazilian patients with the classical form of 21-hydroxylase deficiency due to founder effect
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas