A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome (2010)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidades: FM
- Subjects: MUTAÇÃO GENÉTICA; DISTÚRBIOS DA FUNÇÃO SEXUAL (GENÉTICA); DOENÇAS HEREDITÁRIAS (DIAGNÓSTICO); RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 74, n. suppl. 3, p. 207, res. P2-d2.690, 2010
- Conference title: Annual meeting of the European Society for Pediatric Endocrinology (ESPE)
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ABNT
SILVA, Thatiana E.; SANTOS, Mariza G.; MARTIN, Regina M.; et al. A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics[S.l: s.n.], 2010. -
APA
Silva, T. E., Santos, M. G., Martin, R. M., Nishi, M. N., Costa, E. E. M. F., Mendonca, B. B., & Domenice, S. (2010). A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. Basel. -
NLM
Silva TE, Santos MG, Martin RM, Nishi MN, Costa EEMF, Mendonca BB, Domenice S. A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207. -
Vancouver
Silva TE, Santos MG, Martin RM, Nishi MN, Costa EEMF, Mendonca BB, Domenice S. A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome. Hormone Research in Paediatrics. 2010 ; 74( suppl. 3): 207. - Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absense of SRY sequence in gonadal tissue
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- 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
- 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
- Mutations in the SRY, DAX1, SF1 and WNT4 genes in brazilian sex-reversed patients
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