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
Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease.
Nigro E et al.
International Journal of Molecular Sciences, 2024
38892431 (PubMed )
Supplement: ijms-25-06243-s001.zip › ijms-2979393-supplementary.pdf
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
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
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family.
Miao Y et al.
Clinical Science (london, England : 1979), 2017
Simultaneous adult polycystic kidney disease and Alport syndrome.
Phelan PJ et al.
Nephrology (carlton, Vic.), 2016
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2014
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
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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