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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report.
Laureano DP et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
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
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
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.
Cocchetti C et al.
Journal of Endocrinological Investigation, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A et al.
Hormones (athens, Greece), 2018
A study of splicing mutations in disorders of sex development.
de Calais FL et al.
Scientific Reports, 2017
Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.
Yuan S et al.
Steroids, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
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
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
46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.
Chávez B et al.
Molecular Genetics & Genomic Medicine, 2014
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Chan AO et al.
Clinical Chemistry, 2013
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.
Veiga-Junior NN et al.
International Journal of Endocrinology, 2012
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Practical approach to steroid 5alpha-reductase type 2 deficiency.
Cheon CK
European Journal of Pediatrics, 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
Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
Sahu R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.
Sahakitrungruang T et al.
Fertility and Sterility, 2008
Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
Vilchis F et al.
Journal of Human Genetics, 2008
Early diagnosis of 5alpha-reductase deficiency in newborns.
Bertelloni S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2007
[Steroid 5alpha-reductase deficiency].
Tohda A
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.
Stuchi-Perez EG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
Hackel C et al.
Journal of Molecular Medicine (berlin, Germany), 2005
[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].
Hackel C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase.
Milewich L et al.
The Journal of Clinical Endocrinology and Metabolism, 1995
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
Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.
Yu BQ et al.
Asian Journal of Andrology, 0