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
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
40269498 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM4_ESM.xlsx › M1
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37214819 (PubMed )
Supplement: media-1.xlsx › M1
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
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
32457805 (PubMed )
Supplement: Data_Sheet_1.PDF
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-s4.xlsx › Sheet1
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
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
Yu C et al.
Bmc Medical Genetics, 2011
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