Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients (2004)
- Authors:
- USP affiliated authors: MENDONCA, BERENICE BILHARINHO DE - FM ; DOMENICE SORAHIA - FM ; ARNHOLD, IVO JORGE PRADO - FM
- Unidades: FM; FM; FM
- DOI: 10.1590/s0100-879x2004000100020
- Subjects: GENÉTICA MOLECULAR; MUTAÇÃO GENÉTICA
- Language: Português
- Imprenta:
- Source:
- Título do periódico: Brazilian Journal of Medical and Biological Research
- ISSN: 0100-879X
- Volume/Número/Paginação/Ano: v. 37, n. 1, p. 145-150, January, 2004
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by
-
ABNT
DOMENICE, Sorahia; COSTA, E. M. F.; NISHI, M. Y.; et al. Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients. Brazilian Journal of Medical and Biological Research, São Paulo, v. 37, n. 1, p. 145-150, 2004. Disponível em: < http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0036-46652004000200010&lng=en&nrm=iso&tlng=en > DOI: 10.1590/s0100-879x2004000100020. -
APA
Domenice, S., Costa, E. M. F., Nishi, M. Y., Correa, R. V., Vilain, E., Arnhold, I. J. P., & Mendonça, B. B. (2004). Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients. Brazilian Journal of Medical and Biological Research, 37( 1), 145-150. doi:10.1590/s0100-879x2004000100020 -
NLM
Domenice S, Costa EMF, Nishi MY, Correa RV, Vilain E, Arnhold IJP, Mendonça BB. Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients [Internet]. Brazilian Journal of Medical and Biological Research. 2004 ; 37( 1): 145-150.Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0036-46652004000200010&lng=en&nrm=iso&tlng=en -
Vancouver
Domenice S, Costa EMF, Nishi MY, Correa RV, Vilain E, Arnhold IJP, Mendonça BB. Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients [Internet]. Brazilian Journal of Medical and Biological Research. 2004 ; 37( 1): 145-150.Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0036-46652004000200010&lng=en&nrm=iso&tlng=en - Variable ACTH-stimulated 17-Hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations
- Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitibity syndrome in a brazilian cohort: five novel mutations in the androgen receptor gene
- 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
- Absense of duplication on DAX1 gene in patients with 46,XY sex reversal
- 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
- Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
- An unusual phenotype of fraiser syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis
- Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocius puberty
Informações sobre o DOI: 10.1590/s0100-879x2004000100020 (Fonte: oaDOI API)
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