Bruno Ferraz‐de‐Souza
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo(BR)The University of Notre Dame Australia(AU)
Publications by Year
Research Areas
Sexual Differentiation and Disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Hormonal Regulation and Hypertension, Connective tissue disorders research, Estrogen and related hormone effects
Most-Cited Works
- → Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1(2010)245 cited
- → Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function(2007)209 cited
- → Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome(2012)206 cited
- → Steroidogenic factor-1 (SF-1, NR5A1) and human disease(2010)184 cited
- → Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency(2007)157 cited
- → Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals(2016)120 cited