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
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.
Yuan Z et al.
European Journal of Endocrinology, 2024
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E et al.
Jci Insight, 2024
38885337 (PubMed )
Supplement: jciinsight-9-179071-s025.pdf
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies.
Li L et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Campbell T et al.
Genetics in Medicine Open, 2024
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S et al.
Genes, 2023
37107710 (PubMed )
Supplement: genes-14-00952-s001.zip › YiST-FDXR-Supplementary_Table_S3.pdf
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2022
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton SL et al.
Human Mutation, 2021
Identification of mutations in patients with acquired pure red cell aplasia.
Zhang X et al.
Acta Biochimica Et Biophysica Sinica, 2018
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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