Search of mutations in DMRT1 gene in 46,XY and 46,XX dsd (disorder of sexual development) patients due to gonadal abnormalities.

• Grant number: 09/03872-3
• Support Opportunities: Scholarships in Brazil - Master
• Start date: March 01, 2010
• End date: February 29, 2012
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Sorahia Domenice
• Grantee: Thatiana Evilen da Silva
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Scientific publications

(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)

MACHADO, ALINE ZAMBONI; DA SILVA, THATIANA EVILEN; FRADE COSTA, ELAINE MARIA; DOS SANTOS, MARIZA GERDULO; NISHI, MIRIAN YUMIE; BRITO, VINICIUS NAHIME; MENDONCA, BERENICE BILHARINHO; DOMENICE, SORAHIA. Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 55, n. 12, p. 690-694, DEC 2012. (09/03872-3)

DA SILVA, THATIANA EVILEN; NISHI, MIRIAN YUMIE; FRADE COSTA, ELAINE MARIA; MARTIN, REGINA MATSUNAGA; CARVALHO, FILOMENA MARINO; MENDONCA, BERENICE BILHARINHO; DOMENICE, SORAHIA. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome. Pediatric Nephrology, v. 26, n. 8, p. 1311-1315, AUG 2011. (09/03872-3)

DA SILVA‚ T.E.; NISHI‚ M.Y.; COSTA‚ E.M.F.; MARTIN‚ R.M.; CARVALHO‚ F.M.; MENDONCA‚ B.B.; DOMENICE‚ S.. A novel WT1 heterozygous nonsense mutation (p. K248X) causing a mild and slightly progressive nephropathy in a 46‚ XY patient with Denys-Drash syndrome. Pediatric Nephrology, p. 1-5, 2011. (09/03872-3)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

SILVA, Thatiana Evilen da. Search of mutation on DMRT1 gene in patients with 46,XY disorders of sex development (DSD) by gonads abnormalities. 2012. Master's Dissertation - Universidade de São Paulo (USP). Faculdade de Medicina (FM/SBD) São Paulo.