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
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
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
Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.
Ryland GL et al.
Genome Medicine, 2015
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
Virzì GM et al.
Journal of Clinical Laboratory Analysis, 2014
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2012
Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease.
Chang MY et al.
Renal Failure, 2005
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
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
Pei Y et al.
American Journal of Human Genetics, 2001
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Location of mutations within the PKD2 gene influences clinical outcome.
Hateboer N et al.
Kidney International, 2000
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Torra R et al.
Kidney International, 1999
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
Torra R et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
[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
The natural history of autosomal dominant polycystic kidney disease. A strategy for grouping families and mutations.
Espinosa Cabello M et al.
Nefrologia, 0