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
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
40677324 (PubMed )
Supplement: mmc1.pdf
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
40282368 (PubMed )
Supplement: genes-16-00408-s001.zip › genes-3515821-supplementary.pdf
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
39990878 (PubMed )
Supplement: mmc1.pdf
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
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE et al.
Kidney International Reports, 2024
38481516 (PubMed )
Supplement: mmc1.pdf
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
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
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
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
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