Associated Papers
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.
Jing H et al.
Clinical Genetics, 2026
The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature.
Balagamage C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.
Kumar A et al.
Archives of Sexual Behavior, 2025
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.
Ding L et al.
Orphanet Journal of Rare Diseases, 2025
A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency.
Zhou P et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y et al.
Asian Journal of Andrology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.
Wong YS et al.
Frontiers in Pediatrics, 2025
5α Reductase Deficiency-a Rare Cause of Ambiguous Genitalia and Gender Dysphoria.
Wall E et al.
Jcem Case Reports, 2024
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
Chen H et al.
Biology of Sex Differences, 2024
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Zhang W et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report.
Chen J et al.
Medicine, 2023
[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development].
Cao YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Neural network non-linear modeling to predict hypospadias genotype-phenotype correlation.
Fernandez N et al.
Journal of Pediatric Urology, 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E et al.
Endocrine Connections, 2023
The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Seo J et al.
International Journal of Molecular Sciences, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Li L et al.
Italian Journal of Pediatrics, 2022
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Genotype-Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency.
Gui T et al.
International Journal of General Medicine, 2022
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant.
Chen L et al.
Frontiers in Genetics, 2021
Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Fan L et al.
Molecular Genetics & Genomic Medicine, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
Han B et al.
Biomed Research International, 2020
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B et al.
Journal of Medical Genetics, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.
Xu Y et al.
European Journal of Endocrinology, 2019
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
Zhang W et al.
Molecular Genetics & Genomic Medicine, 2019
[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency].
Song YN et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
Jia W et al.
Endocrine Journal, 2018
Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.
Yuan S et al.
Steroids, 2017
[Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].
Yuan S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Fan Y et al.
Scientific Reports, 2017
Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
Ittiwut C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
Chan AO et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2015
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
Cheng J et al.
Clinical Endocrinology, 2015
The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population.
Choi SY et al.
Korean Journal of Urology, 2015
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
Di Marco C et al.
Gene, 2013
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Chan AO et al.
Clinical Chemistry, 2013
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
Simsek E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
Yang Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012