Associated Papers
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
40677324 (PubMed )
Supplement: mmc1.pdf
Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.
De Paolis E et al.
Journal of Clinical Medicine, 2024
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE et al.
Kidney International Reports, 2024
38481516 (PubMed )
Supplement: mmc1.pdf
Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.
Liu X et al.
Bmc Genomics, 2023
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
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
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
Pei Y et al.
Journal of the American Society of Nephrology : Jasn, 1998
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B et al.
American Journal of Human Genetics, 1997
[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
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