Associated Papers
Semi-automated genomic newborn screening highlights complexities in reporting.
Chowdhury A et al.
Npj Genomic Medicine, 2026
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.
Gaikwad AS et al.
Ebiomedicine, 2025
Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework.
Veitia RA et al.
Human Reproduction (oxford, England), 2025
Population-Based Study of Rare Coding Variants in NR5A1/SF-1.
Kouri C et al.
Journal of the Endocrine Society, 2024
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Gau M et al.
Frontiers in Endocrinology, 2022
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.
Rossetti R et al.
Frontiers in Endocrinology, 2021
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing.
Cannarella R et al.
Life (basel, Switzerland), 2020
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Cattoni A et al.
Frontiers in Endocrinology, 2020
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
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
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
Nishina-Uchida N et al.
Hormone Research in Paediatrics, 2013
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
Camats N et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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
Clinical, biological and genetic analysis of anorchia in 26 boys.
Brauner R et al.
Plos One, 2011
[SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].
Martinerie L et al.
Annales D'endocrinologie, 2009
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D et al.
The New England Journal of Medicine, 2009
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
Philibert P et al.
Human Reproduction (oxford, England), 2007
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.
Cannarella R et al.
Asian Journal of Andrology, 0