Associated Papers
Prevalence and outcomes of polycystic kidney disease in African populations: A systematic review.
Ndongo M et al.
World Journal of Nephrology, 2024
A common intronic single nucleotide variant modifies PKD1 expression level.
Zhang Z et al.
Clinical Genetics, 2022
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Hosseinpour M et al.
Archives of Iranian Medicine, 2022
37543885 (PubMed )
Supplement: aim-25-600-s003.xlsx › PKD1_2__PKHD1
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST15
Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.
Khadangi F et al.
Bmc Nephrology, 2020
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3
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
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM et al.
Kidney International, 2014
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
Stekrova J et al.
Bmc Medical Genetics, 2009
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
Vouk K et al.
Bmc Medical Genetics, 2006
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