Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Wang Y et al.
Npj Genomic Medicine, 2026
Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.
Jin Y et al.
Medicina (kaunas, Lithuania), 2025
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.
Kim JH et al.
European Journal of Human Genetics : Ejhg, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 2024
PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.
Muntean C et al.
International Journal of Molecular Sciences, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
Zhao X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Stevenson M et al.
American Journal of Medical Genetics. Part A, 2020
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R et al.
Journal of Human Genetics, 2020
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y et al.
European Journal of Human Genetics : Ejhg, 2020
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.
Rachwani Anil R et al.
American Journal of Ophthalmology Case Reports, 2019
Diverse phenotypes in children with PAX2-related disorder.
Deng H et al.
Molecular Genetics & Genomic Medicine, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Developmental Causes of Focal Segmental Glomerulosclerosis.
Klomp LS et al.
Glomerular Diseases, 0