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
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
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report.
Bourke C et al.
Ophthalmic Genetics, 2025
Genotype-phenotype correlations and functional characterization of novel PAX2 variants in a 10-patient pediatric cohort.
Fu M et al.
Renal Failure, 2025
C3 Glomerulonephritis in a Child with Renal Coloboma Syndrome.
Zutshi S et al.
Indian Journal of Pediatrics, 2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
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
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.
Yao W et al.
Molecular Genetics & Genomic Medicine, 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
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.
Hu X et al.
Molecular Genetics & Genomic Medicine, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
Shimabukuro W et al.
Pediatric Nephrology (berlin, Germany), 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.
Yamada Y et al.
Cen Case Reports, 2024
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
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
Untranslated regions (UTRs) are a potential novel source of neoantigens for personalised immunotherapy.
Sng CCT et al.
Frontiers in Immunology, 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
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM et al.
European Journal of Human Genetics : Ejhg, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
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
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.
Xiong HY et al.
Frontiers in Genetics, 2022
The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT.
Liu W et al.
Frontiers in Genetics, 2022
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.
Zhu X et al.
Frontiers in Medicine, 2022
FSGS in Chinese twins with a de novo PAX2 mutation: a case report and review of the literature.
Hu R et al.
Journal of Nephrology, 2021
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome-A report of two generations.
Nguyen A et al.
Clinical Case Reports, 2021
Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy.
Ng B et al.
Bmj Case Reports, 2021
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jung J et al.
Bmc Medical Genomics, 2021
An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.
Wang Z et al.
Npj Genomic Medicine, 2021
A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature.
Liu S et al.
American Journal of Ophthalmology Case Reports, 2021
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021