Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

NR5A1(SF-1) Mutations Are Not a Major Cause of Primary Ovarian Insufficiency

(2013) Adela Voican et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A report of two novelNR5A1mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression

(2012) Ayuko S. Suwanai et al.   CLINICAL 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

Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure

(2012) Besma Lakhal et al.   GENE

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in theNR5A1/SF-1Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

(2012) Marta Ciaccio et al.   Hormone Research in Paediatrics

Cytogenetic analysis of 531 Chinese women with premature ovarian failure

(2012) X. Jiao et al.   HUMAN REPRODUCTION

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

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)

(2011) Femi Janse et al.   FERTILITY AND STERILITY

Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)

(2011) Yingying Qin et al.   HUMAN MOLECULAR GENETICS

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort

(2011) Justine Bouilly et al.   HUMAN MUTATION

Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

(2010) Diana Monica Warman et al.   Hormone Research in Paediatrics

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

(2009) Raffaella Rossetti et al.   HUMAN MUTATION

Inhibin and premature ovarian failure

(2009) A.L. Chand et al.   HUMAN REPRODUCTION UPDATE

Mutations inNR5A1Associated with Ovarian Insufficiency

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

Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure

(2008) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired Follicle Development and Infertility in Female Mice Lacking Steroidogenic Factor 1 in Ovarian Granulosa Cells1

(2008) Carla Pelusi et al.   BIOLOGY OF REPRODUCTION

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

(2008) L. Lin et al.   Sexual Development

Recent advances in the study of genes involved in non-syndromic premature ovarian failure

(2007) Paul Laissue et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY