Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 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
[Lymphocytic leukopenia in two patients affected by polycystic kidney disease waiting for renal transplantation].
Costa E et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 2022
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
Virzì GM et al.
Journal of Clinical Laboratory Analysis, 2014
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
Neumann HP et al.
International Urology and Nephrology, 2012
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
Robinson C et al.
Bmc Nephrology, 2012
A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
Giamarchi A et al.
The Embo Journal, 2010
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R et al.
Journal of the American Society of Nephrology : Jasn, 2003
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
Torra R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2000
[Epidemiological and molecular study of autosomal dominant polycystic kidney disease (ADPKD) in the province of Vicenza, Italy: possible founder effect?].
Corradi V et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0