Associated Papers
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
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y et al.
Asian Journal of Andrology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.
Zhang W et al.
Andrology, 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 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
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
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Robevska G et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 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
Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.
Xiao Q et al.
Nature Communications, 2020
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
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Arya S et al.
European Journal of Endocrinology, 2020
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
Avendaño A et al.
Annals of Human Genetics, 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
Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
Ahmadifard M et al.
Andrologia, 2019
Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.
Marzuki NS et al.
International Journal of Endocrinology, 2019
Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency.
Kumar A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
Huang Y et al.
Endocrine Connections, 2018
[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].
Wu K et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2018
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
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Byers HM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
Cheng J et al.
Clinical Endocrinology, 2015
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
Fénichel P et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Chan AO et al.
Clinical Chemistry, 2013
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M et al.
International Journal of Andrology, 2011
Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.
Maimoun L et al.
Fertility and Sterility, 2011
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
Maimoun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
Nie M et al.
Molecular Human Reproduction, 2011
A girl with tomboy behavior: lesson from misdiagnosis in a baby with ambiguous genitalia.
Dati E et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010
New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency.
Ferraz LF et al.
American Journal of Medical Genetics, 1999
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994
Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
Vilchis F et al.
Journal of Andrology, 0
Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
Cheng T et al.
Asian Journal of Andrology, 0