Associated Papers
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Wang T et al.
Clinical Case Reports, 2024
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.
Tsai MC et al.
Biomedicines, 2023
Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes.
Dhar S et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.
Zhu H et al.
Orphanet Journal of Rare Diseases, 2021
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Hage M et al.
Andrologia, 2021
Androgen receptor gene mutations in 258 Han Chinese patients with polycystic ovary syndrome.
Tian L et al.
Experimental and Therapeutic Medicine, 2021
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.
Naumova OY et al.
Clinical Case Reports, 2020
Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations.
Li L et al.
Andrologia, 2019
Androgen insensitivity syndrome.
Gulía C et al.
European Review for Medical and Pharmacological Sciences, 2018
Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.
Su L et al.
Andrologia, 2017
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).
Wang Y et al.
Science China. Life Sciences, 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
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
Kon M et al.
Human Reproduction (oxford, England), 2015
[Analysis of a novel mutation of AR gene in a patient featuring mild androgen insensitivity syndrome].
Zhang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
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