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
• Start date: August 01, 2009
• End date: 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

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, 2012. (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, DEC 2011. (08/01964-5, 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, 2014. (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, JAN 10 2014. (09/08320-9, 08/01964-5, 08/03168-1, 11/02865-3)

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, 2017. (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, v. 2012, p. 7-pg., 2012-01-01. (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. 114-123, JAN 2018. (13/05603-5, 13/24333-9, 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, 2018. (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. 10-pg., 2011-12-01. (08/01964-5, 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., 2018-01-01. (09/08320-9, 13/05603-5, 13/24333-9)