Bruno Ferraz‐de‐Souza

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço et al. · The American Journal of Human Genetics · 2010 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function

Lin Lin, Pascal Philibert, Bruno Ferraz‐de‐Souza et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 209 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Valerie A. Arboleda, Hane Lee, Rahul Parnaik et al. · Nature Genetics · 2012 · 207 citations

Life Sciences, Genetics, Molecular Biology +9

Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz‐de‐Souza et al. · Human Mutation · 2007 · 157 citations · Full text

Medicine, Endocrinology, Genetics +17

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

Federica Buonocore, Avinaash Maharaj, Younus Qamar et al. · Journal of the Endocrine Society · 2021 · 60 citations · Full text

Medicine, Endocrinology, Pediatrics +15