Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

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

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

Genital anomalies in boys and the environment

(2010) Katharina M. Main et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Mutational study of the MAMLD1-gene in hypospadias

(2010) Yougen Chen et al.   European Journal of Medical Genetics

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms inSRD5A2,ESR1,ESR2, andATF3Really Associated with the Malformation?

(2010) Loes F. M. van der Zanden et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

(2009) Birgit Köhler et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

Endocrine Disruptors, Genital Development, and Hypospadias

(2008) M.-H. Wang et al.   JOURNAL OF ANDROLOGY

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE

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

(2008) L. Lin et al.   Sexual Development