Associated Papers
Revisiting the gene mutations and protein profile of WT 9-12: An autosomal dominant polycystic kidney disease cell line.
Chai HC et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2024
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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
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
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
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
Egan JB et al.
Plos One, 2014
24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
Qi XP et al.
Gene, 2013
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC et al.
Human Mutation, 2009
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