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
40533884 (PubMed )
Supplement: CGE-109-136-s001.docx
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
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Identification of deleterious variants in nine polycystic kidney disease affected families.
Yuan J et al.
Gene, 2024
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
38224954 (PubMed )
Supplement: gfad270_supplemental_file.pdf
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.
Moriyama T et al.
Clinical and Experimental Nephrology, 2021
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
27499327 (PubMed )
Supplement: srep30850-s5.xls › Sheet1
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
Neumann HP et al.
International Urology and Nephrology, 2012
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