Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
40533884 (PubMed )
Supplement: CGE-109-136-s001.docx
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.
García Rabaneda C et al.
Journal of Clinical Medicine, 2024
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Zhang M et al.
Nephrology (carlton, Vic.), 2019
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R et al.
Journal of the American Society of Nephrology : Jasn, 2003
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
Torra R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2000
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
[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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