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
Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.
Liu X et al.
Clinical Kidney Journal, 2025
39802589 (PubMed )
Supplement: sfae356_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
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
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2014
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
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