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
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2
New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.
Ozyavuz Cubuk P et al.
Biochemical Genetics, 2024
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
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Durkie M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
Xu D et al.
Kidney & Blood Pressure Research, 2018
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
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