John C. Achermann

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

Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

John C. Achermann, Masafumi Ito, Utku Arman Örün et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 296 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

Robert K. Semple, John C. Achermann, J. Ellery et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 287 citations · Full text

Life Sciences, Endocrinology, Genetics +17

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

Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

Lin Lin, Wen-Xia Gu, Wing S. To et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 218 citations · Full text

Medicine, Endocrinology, Molecular Genetics +17