Associated Papers
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
40269498 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.
Ali H et al.
Clinical Kidney Journal, 2023
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
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
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
Elisakova V et al.
Bmc Nephrology, 2018
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Cornec-Le Gall E et al.
Journal of the American Society of Nephrology : Jasn, 2018
A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
Ali H et al.
Bmc Nephrology, 2015
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2002
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S et al.
American Journal of Human Genetics, 2001
Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.
Ong AC et al.
Kidney International, 1999
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