Associated Papers
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.
Mallawaarachchi AC et al.
Npj Genomic Medicine, 2024
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
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf
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
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
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Kim H et al.
Scientific Reports, 2019
31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.pdf
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Tan AY et al.
Journal of the American Society of Nephrology : Jasn, 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
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2007
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
Bouba I et al.
European Journal of Human Genetics : Ejhg, 2001
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