Associated Papers
WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort.
Ramos L
Genes, 2022
Pubertal development in 46,XY patients with NR5A1 mutations.
Mönig I et al.
Endocrine, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
New frontiers on the molecular underpinnings of hypospadias according to severity.
Piñeyro-Ruiz C et al.
Arab Journal of Urology, 2020
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan R et al.
Human Mutation, 2018
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Sproll P et al.
Molecular Genetics & Genomic Medicine, 2018
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Woo KH et al.
Hormone Research in Paediatrics, 2015
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
Werner R et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.
Wu JY et al.
Clinical Endocrinology, 2013
NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.
Philibert P et al.
Fertility and Sterility, 2013
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.
Hu SC et al.
Genetics and Molecular Research : Gmr, 2012
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.
Guoying C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
Adamovic T et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012
Isolated 'idiopathic' micropenis: hidden genetic defects?
Paris F et al.
International Journal of Andrology, 2011
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Ferraz-de-Souza B et al.
Molecular and Cellular Endocrinology, 2011
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D et al.
The New England Journal of Medicine, 2009
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.
Tajima T et al.
Endocrine Journal, 2009
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Köhler B et al.
Human Mutation, 2008
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
Lin L et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008
A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.
Reuter AL et al.
European Journal of Endocrinology, 2007
Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.
Wada Y et al.
Endocrine Journal, 2005
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
Hasegawa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Functional characterization of a new human Ad4BP/SF-1 variation, G146A.
WuQiang F et al.
Biochemical and Biophysical Research Communications, 2003
Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women.
Calvo RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001