Associated Papers
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
38224954 (PubMed )
Supplement: gfad270_supplemental_file.pdf
Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease.
Zhuang J et al.
Frontiers in Medicine, 2023
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Altered trafficking and stability of polycystins underlie polycystic kidney disease.
Cai Y et al.
The Journal of Clinical Investigation, 2014
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
Chang MY et al.
Journal of Human Genetics, 2013
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Symmons O et al.
Molecular Biology and Evolution, 2008
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S et al.
Human Mutation, 2002
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2002
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S et al.
American Journal of Human Genetics, 2001
Select a paper to view details