Associated Papers
Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin.
de Saint Gilles D et al.
Kidney International Reports, 2025
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
Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.
Brazdziunaite D et al.
Medicina (kaunas, Lithuania), 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene.
Yang X et al.
Stem Cell Research, 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
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.
Gao M et al.
Frontiers in 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
Mutations in PAX2 associate with adult-onset FSGS.
Barua M et al.
Journal of the American Society of Nephrology : Jasn, 2014
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
Renal coloboma syndrome.
Schimmenti LA
European Journal of Human Genetics : Ejhg, 2011
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Cross SH et al.
Human Molecular Genetics, 2011
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
Alur RP et al.
Plos Genetics, 2010
A clinico-genetic study of renal coloboma syndrome in children.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2007
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Amiel J et al.
European Journal of Human Genetics : Ejhg, 2000