The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

Multifunctional role of steroidogenic factor 1 and disorders of sex development

(2012) Maricilda Palandi de Mello et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

A novelNR5A1variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

(2012) Joyce Y. Wu et al.   CLINICAL ENDOCRINOLOGY

In vivo evidence for the crucial role of SF1 in steroid-producing cells of the testis, ovary and adrenal gland

(2012) F. W. Buaas et al.   DEVELOPMENT

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

(2012) S. Tantawy et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency

(2012) Pascal Philibert et al.   FERTILITY AND STERILITY

Ten Novel Mutations in theNR5A1Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

(2012) N. Camats et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Steroidogenic Factor 1 and the Central Nervous System

(2011) T. Büdefeld et al.   JOURNAL OF NEUROENDOCRINOLOGY

Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys

(2011) Raja Brauner et al.   PLoS One

Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development

(2011) M. Barbaro et al.   Sexual Development

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

(2011) Nélio Neves Veiga-Junior et al.   International Journal of Endocrinology

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

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

(2010) Bruno Ferraz-de-Souza et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

(2010) Pascal Philibert et al.   Reproductive Biology and Endocrinology

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female

(2009) Anneke van Silfhout et al.   European Journal of Medical Genetics

Molecular aspects of steroidogenic factor 1 (SF-1)

(2009) Erling A. Hoivik et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of Testis Development

(2008) L. Lin et al.   Sexual Development