Associated Papers
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.
Kim JH et al.
European Journal of Human Genetics : Ejhg, 2025
39994403 (PubMed )
Supplement: 41431_2025_1822_MOESM1_ESM.pdf
PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.
Negrisolo S et al.
International Journal of Molecular Sciences, 2023
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
Identification of candidate PAX2-regulated genes implicated in human kidney development.
Yamamura Y et al.
Scientific Reports, 2021
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.
Oh SH et al.
Annals of Clinical and Laboratory Science, 2020
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.
Zhang L et al.
Bmc Nephrology, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.
Okumura T et al.
Plos One, 2015
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
A clinico-genetic study of renal coloboma syndrome in children.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2007
Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.
Higashide T et al.
American Journal of Ophthalmology, 2005
Select a paper to view details