Associated Papers
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
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.
Rafiee M et al.
Journal of Applied Genetics, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.
De Paolis E et al.
Journal of Clinical Medicine, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Hosseinpour M et al.
Archives of Iranian Medicine, 2022
Exome Sequencing in Individuals with Isolated Biliary Atresia.
Rajagopalan R et al.
Scientific Reports, 2020
TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.
Magistroni R et al.
Bmc Nephrology, 2019
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T et al.
Molecular Genetics & Genomic Medicine, 2019
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
European Journal of Human Genetics : Ejhg, 2016
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.
Entezam M et al.
Kidney Research and Clinical Practice, 2016
Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis.
Entezam M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2016
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
Neumann HP et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
Robinson C et al.
Bmc Nephrology, 2012
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
Chung W et al.
Clinical Genetics, 2006
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].
Pérez-Oller L et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0