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
Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.
Li N et al.
Pediatric Nephrology (berlin, Germany), 2026
Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.
Sultana N et al.
Clinical Case Reports, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal
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
Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.
Jin Y et al.
Medicina (kaunas, Lithuania), 2025
Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.
Chowers G et al.
Kidney International Reports, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L et al.
Kidney International Reports, 2023
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.
Muntean C et al.
International Journal of Molecular Sciences, 2023
The Role of PAX2 in Neurodevelopment and Disease.
Lv N et al.
Neuropsychiatric Disease and Treatment, 2021
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.
Iwafuchi Y et al.
Case Reports in Nephrology and Dialysis, 0
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