Associated Papers
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
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.
Liu X et al.
Clinical Kidney Journal, 2025
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Fujimaru T et al.
Kidney International Reports, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease.
Nigro E et al.
International Journal of Molecular Sciences, 2024
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 2024
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.
Yan Z et al.
Frontiers in Genetics, 2022
PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
Xu D et al.
Clinical Genetics, 2021
Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.
Dong K et al.
Molecular Genetics & Genomic Medicine, 2020
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V et al.
Frontiers in Genetics, 2020
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Zhang M et al.
Nephrology (carlton, Vic.), 2019
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
Xu D et al.
Kidney & Blood Pressure Research, 2018
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
Arterial aneurysms: autosomal dominant polycystic kidney disease, Marfan syndrome or both?
Riccio E et al.
Clinical and Experimental Nephrology, 2014
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
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
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2012
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
Determinants of renal disease variability in ADPKD.
Harris PC et al.
Advances in Chronic Kidney Disease, 2010
2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery.
Harris PC
Journal of the American Society of Nephrology : Jasn, 2009
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
Vouk K et al.
Bmc Medical Genetics, 2006
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Stekrová J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R et al.
Journal of the American Society of Nephrology : Jasn, 2003
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
Reiterová J et al.
Human Mutation, 2002
Genetic studies of the Roma (Gypsies): a review.
Kalaydjieva L et al.
Bmc Medical Genetics, 2001
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
Torra R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2000
Location of mutations within the PKD2 gene influences clinical outcome.
Hateboer N et al.
Kidney International, 2000
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Torra R et al.
Kidney International, 1999
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
Pei Y et al.
Journal of the American Society of Nephrology : Jasn, 1998
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B et al.
American Journal of Human Genetics, 1997
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
Torra R et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0