Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations

(2018) Maria Santa Rocca et al.   FERTILITY AND STERILITY

A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure

(2017) Anna S. Orekhova et al.   Hormone Research in Paediatrics

Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review

(2017) Kei Takasawa et al.   Sexual Development

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

(2017) Matthieu Peycelon et al.   Sexual Development

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

(2017) Ralf Werner et al.   PLoS One

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

(2016) Dorien Baetens et al.   GENETICS IN MEDICINE

IdenticalNR5A1Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

(2016) Maki Igarashi et al.   HUMAN MUTATION

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

(2016) Helena C. Fabbri et al.   Sexual Development

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

(2015) Jenifer P. Suntharalingham et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Fertility preservation in a family with a novel NR5A1 mutation

(2015) Hiroko Yagi et al.   ENDOCRINE JOURNAL

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

(2015) Ralf Werner et al.   Sexual Development

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

(2014) Helena Campos Fabbri et al.   BMC Medical Genetics

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development

(2014) Sally Tantawy et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

(2013) Tracy Brandt et al.   European Journal of Medical Genetics

Disorders of sex development: new genes, new concepts

(2013) Makoto Ono et al.   Nature Reviews Endocrinology

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

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

Evaluation and Management of Disorders of Sex Development: Multidisciplinary Approach to a Complex Diagnosis

(2012) Mariam Moshiri et al.   RADIOGRAPHICS

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

(2011) Slimane Allali et al.   PLoS One

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

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

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father

(2010) Pascal Philibert et al.   FERTILITY AND STERILITY

Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease

(2010) Bernard P. Schimmer et al.   MOLECULAR ENDOCRINOLOGY

A Novel Heterozygous Mutation of Steroidogenic Factor-1 (SF-1/Ad4BP) Gene (NR5A1) in a 46, XY Disorders of Sex Development (DSD) Patient without Adrenal Failure

(2009) Toshihiro TAJIMA et al.   ENDOCRINE JOURNAL

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

Mutations inNR5A1Associated with Ovarian Insufficiency

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

Swyer syndrome: presentation and outcomes

(2008) L Michala et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY