Associated Papers
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Ali H et al.
Scientific Reports, 2019
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs DM et al.
Human Mutation, 2017
28378423 (PubMed )
Supplement: HUMU-38-870-s001.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-s2.xlsx › Sheet1
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger T et al.
Plos One, 2015
25646624 (PubMed )
Supplement: pone.0116680.s014.pdf
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bataille S et al.
Bmc Nephrology, 2011
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC et al.
Human Mutation, 2009
Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.
Koptides M et al.
Human Molecular Genetics, 2000
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