Associated Papers
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
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM4_ESM.xlsx › M1
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
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
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37214819 (PubMed )
Supplement: media-1.xlsx › M1
Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
Sahin I et al.
Acta Neurologica Belgica, 2022
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2012
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P et al.
Journal of Molecular Medicine (berlin, Germany), 2005
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