Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris (2011)
- Autores:
- Autor USP: MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Assuntos: MUTAÇÃO GENÉTICA; NEOPLASIAS TESTICULARES; DISTÚRBIOS DA FUNÇÃO SOCIAL; CARCINOMA DE CÉLULAS ESCAMOSAS; RESUMOS (EVENTOS)
- Idioma: Inglês
- Imprenta:
- Fonte:
- Título do periódico: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 76, n. suppl. 4, p. 22 res. 58, 2011
- Nome do evento: Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)
-
ABNT
SILVA, R. et al. Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf. Acesso em: 24 abr. 2024. , 2011 -
APA
Silva, R., Domenice, S., Nishi, M., Machado, A., Silva, T., Santos, M., et al. (2011). Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf -
NLM
Silva R, Domenice S, Nishi M, Machado A, Silva T, Santos M, Brandão M, Mendonça B, Costa E. Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris [Internet]. Hormone Research in Paediatrics. 2011 ; 76( suppl. 4): 22 res. 58.[citado 2024 abr. 24 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf -
Vancouver
Silva R, Domenice S, Nishi M, Machado A, Silva T, Santos M, Brandão M, Mendonça B, Costa E. Novel Mutation in Rspo1 in Patient with Disorder of Sexual Development 46, XX Testicular Associated to Hiperceratose Palmoplantaris [Internet]. Hormone Research in Paediatrics. 2011 ; 76( suppl. 4): 22 res. 58.[citado 2024 abr. 24 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.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
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