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Serching for mutations on ar and SRD5A2 genes in 46,XY newborn and pre-pubarche patients with genital ambiguity

Grant number: 09/08320-9
Support Opportunities:Regular Research Grants
Duration: August 01, 2009 - July 31, 2011
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Maricilda Palandi de Mello
Grantee:Maricilda Palandi de Mello
Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Articles published in Agência FAPESP Newsletter about the research grant:
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VEICULO: TITULO (DATA)

Scientific publications (10)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
VEIGA-JUNIOR, NELIO NEVES; RODRIGUES MEDAETS, PEDRO AUGUSTO; PETROLI, REGINALDO JOSE; CALAIS, FLAVIA LEME; DE MELLO, MARICILDA PALANDI; TELLES DE SOUSA CASTRO, CARLA CRISTINA; GUARAGNA-FILHO, GUILHERME; SEWAYBRICKER, LETICIA ESPOSITO; MARQUES-DE-FARIA, ANTONIA PAULA; MACIEL-GUERRA, ANDREA TREVAS; et al. Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5 alpha-Reductase Type 2 Deficiency. INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, v. 2012, p. 7-pg., . (09/08320-9)
PETROLI, REGINALDO J.; HIORT, OLAF; STRUVE, DAGMAR; MACIEL-GUERRA, ANDREA T.; GUERRA-JUNIOR, GIL; DE MELLO, MARICILDA PALANDI; WERNER, RALF. Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor. SEXUAL DEVELOPMENT, v. 8, n. 6, p. 350-355, . (08/01964-5, 09/08320-9)
PETROLI, REGINALDO J.; HIORT, OLAF; STRUVE, DAGMAR; GESING, JULIA K.; SOARDI, FERNANDA C.; SPINOLA-CASTRO, ANGELA M.; MELO, KARLA; ARNHOLD, IVO J. PRADO; MACIEL-GUERRA, ANDREA T.; GUERRA-JUNIOR, GIL; et al. Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome. SEXUAL DEVELOPMENT, v. 11, n. 5-6, p. 238-247, . (08/01964-5, 09/08320-9)
VEIGA-JUNIOR, NELIO NEVES; RODRIGUES MEDAETS, PEDRO AUGUSTO; PETROLI, REGINALDO JOSE; CALAIS, FLAVIA LEME; DE MELLO, MARICILDA PALANDI; TELLES DE SOUSA CASTRO, CARLA CRISTINA; GUARAGNA-FILHO, GUILHERME; SEWAYBRICKER, LETICIA ESPOSITO; MARQUES-DE-FARIA, ANTONIA PAULA; MACIEL-GUERRA, ANDREA TREVAS; et al. Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5 alpha-Reductase Type 2 Deficiency. INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, . (09/08320-9)
DE CALAIS, FLAVIA LEME; SOARDI, FERNANDA CAROLINE; PETROLI, REGINALDO JOSE; GORI LUSA, ANA LETICIA; DE PAIVA E SILVA, ROBERTO BENEDITO; MACIEL-GUERRA, ANDREA TREVAS; GUERRA-JUNIOR, GIL; DE MELLO, MARICILDA PALANDI. Molecular Diagnosis of 5 alpha-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 12, n. 12, p. 9471-9480, . (08/01964-5, 09/08320-9)
FABBRI, HELENA CAMPOS; RIBEIRO DE ANDRADE, JULIANA GABRIEL; SOARDI, FERNANDA CAROLINE; DE CALAIS, FLAVIA LEME; PETROLI, REGINALDO JOSE; MACIEL-GUERRA, ANDREA TREVAS; GUERRA-JUNIOR, GIL; DE MELLO, MARICILDA PALANDI. The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency. BMC MEDICAL GENETICS, v. 15, . (09/08320-9, 08/01964-5, 08/03168-1, 11/02865-3)
FABBRI-SCALLET, HELENA; DE MELLO, MARICILDA PALANDI; GUERRA-JUNIOR, GIL; MACIEL-GUERRA, ANDREA TREVAS; RIBEIRO DE ANDRADE, JULIANA GABRIEL; COSTA DE QUEIROZ, CAMILA MAIA; MONLLEO, ISABELLA LOPES; STRUVE, DAGMAR; HIORT, OLAF; WERNER, RALF. Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development. Human mutation, v. 39, n. 1, p. 114-123, . (13/05603-5, 13/24333-9, 09/08320-9)
FABBRI-SCALLET, HELENA; DE MELLO, MARICILDA PALANDI; GUERRA-JUNIOR, GIL; MACIEL-GUERRA, ANDREA TREVAS; RIBEIRO DE ANDRADE, JULIANA GABRIEL; COSTA DE QUEIROZ, CAMILA MAIA; MONLLEO, ISABELLA LOPES; STRUVE, DAGMAR; HIORT, OLAF; WERNER, RALF. Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development. Human mutation, v. 39, n. 1, p. 10-pg., . (09/08320-9, 13/05603-5, 13/24333-9)
DE CALAIS, FLAVIA LEME; SOARDI, FERNANDA CAROLINE; PETROLI, REGINALDO JOSE; GORI LUSA, ANA LETICIA; DE PAIVA E SILVA, ROBERTO BENEDITO; MACIEL-GUERRA, ANDREA TREVAS; GUERRA-JUNIOR, GIL; DE MELLO, MARICILDA PALANDI. Molecular Diagnosis of 5 alpha-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 12, n. 12, p. 10-pg., . (08/01964-5, 09/08320-9)
YABIKU, RAFAEL S.; GUARAGNA, MARA S.; DE SOUSA, LIZANDRA M.; FABBRI-SCALLET, HELENA; MAZZOLA, TAIS N.; PIVETA, CRISTIANE S. C.; DE SOUZA, MARCELA L.; GUERRA-JUNIOR, GIL; DE MELLO, MARICILDA P.; MACIEL-GUERRA, ANDREA T.. A Search for Disorders of Sex Development among Infertile Men. SEXUAL DEVELOPMENT, v. 12, n. 6, p. 275-280, . (09/08320-9)

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