Phenotypic Variation of SF1 Gene Mutations

Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids.

Yoel Sadovsky, Peter A. Crawford, K. Woodson et al. · Proceedings of the National Academy of Sciences · 1995 · 464 citations

Life Sciences, Endocrinology, Genetics +17

Mutations in <i>NR5A1</i> Associated with Ovarian Insufficiency

Diana Lourenço, Raja Brauner, Lin Lin et al. · New England Journal of Medicine · 2009 · 389 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

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

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

Pascal Philibert, Delphine Zénaty, Lin Lin et al. · Human Reproduction · 2007 · 155 citations · Full text

Medicine, Endocrinology, Genetics +17