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
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Ercoskun P et al.
Clinical Genetics, 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.
Ibel A et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Chen EWC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?
Bucci R et al.
Clinical Case Reports, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H et al.
Clinical Kidney Journal, 2023
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.
Pagnamenta AT et al.
Human Mutation, 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
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
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Durkie M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Exome sequencing of Saudi Arabian patients with ADPKD.
Al-Muhanna FA et al.
Renal Failure, 2019
Intrafamilial Variability of ADPKD.
Lanktree MB et al.
Kidney International Reports, 2019
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
Pandita S et al.
Journal of Human Genetics, 2019
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
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Audrézet MP et al.
Human Mutation, 2012
Kidney function and volume progression in unilateral autosomal dominant polycystic kidney disease with contralateral renal agenesis or hypoplasia: a case series.
Poster D et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2009
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
Rossetti S et al.
Lancet (london, England), 2003
A complete mutation screen of the ADPKD genes by DHPLC.
Rossetti S et al.
Kidney International, 2002
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S et al.
American Journal of Human Genetics, 2001