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
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V et al.
Frontiers in Genetics, 2020
32457805 (PubMed )
Supplement: Data_Sheet_1.PDF
TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.
Magistroni R et al.
Bmc Nephrology, 2019
High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
Virzì GM et al.
Journal of Clinical Laboratory Analysis, 2014
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells.
Aguiari G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004
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
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
[Epidemiological and molecular study of autosomal dominant polycystic kidney disease (ADPKD) in the province of Vicenza, Italy: possible founder effect?].
Corradi V et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0
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