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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Fujimaru T et al.
Kidney International Reports, 2024
39291187 (PubMed )
Supplement: mmc1.pdf
Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.
Yilmaz K et al.
Frontiers in Pediatrics, 2024
38464892 (PubMed )
Supplement: Table1.xlsx › Sayfa1
A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.
Yan Z et al.
Frontiers in Genetics, 2022
36186434 (PubMed )
Supplement: Table1.XLSX › PKD1
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 novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
Yu C et al.
Bmc Medical Genetics, 2011
Select a paper to view details