Associated Papers
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2025
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
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
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Zheng GY et al.
Journal of Endocrinological Investigation, 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
Polymorphisms of androgens-related genes and idiopathic male infertility in Turkish men.
Metin Mahmutoglu A et al.
Andrologia, 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
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
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
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
Cheng J et al.
Clinical Endocrinology, 2015
Steroid 5-{alpha}-reductase Type 2 (SRD5a2) gene polymorphisms and risk of prostate cancer: a HuGE review.
Li J et al.
American Journal of Epidemiology, 2010
[Mutation analysis of SRD5A2 gene in patients with hypospadias].
Xu JJ et al.
Zhonghua Zheng Xing Wai Ke Za Zhi = Zhonghua Zhengxing Waike Zazhi = Chinese Journal of Plastic Surgery, 2006
Androgen metabolic genes in prostate cancer predisposition and progression.
Makridakis NM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2005
Pharmacogenetic analysis of human steroid 5 alpha reductase type II: comparison of finasteride and dutasteride.
Makridakis N et al.
Journal of Molecular Endocrinology, 2005
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
Makridakis NM et al.
Pharmacogenetics, 2000
Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
Cheng T et al.
Asian Journal of Andrology, 0