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
Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.
Greipel L et al.
Kidney International Reports, 2025
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.
Kim JH et al.
European Journal of Human Genetics : Ejhg, 2025
Renal Coloboma Syndrome-An Autosomal Dominant Genetic Disorder.
Jayanthan SS et al.
The Indian Journal of Radiology & Imaging, 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
Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.
Xiong HY 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
The Role of PAX2 in Neurodevelopment and Disease.
Lv N et al.
Neuropsychiatric Disease and Treatment, 2021
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R et al.
Journal of Human Genetics, 2020
Diverse phenotypes in children with PAX2-related disorder.
Deng H et al.
Molecular Genetics & Genomic Medicine, 2019
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Kidney International, 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
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Thomas R et al.
Pediatric Nephrology (berlin, Germany), 2011
Papillorenal syndrome after Beta-interferon treatment in pregnancy.
Gucev ZS et al.
Renal Failure, 2009
A clinico-genetic study of renal coloboma syndrome in children.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2007
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
Schimmenti LA et al.
Ophthalmic Genetics, 2003
Developmental Causes of Focal Segmental Glomerulosclerosis.
Klomp LS et al.
Glomerular Diseases, 0