Associated Papers
Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.
Sharova M et al.
Prenatal Diagnosis, 2026
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Chen EWC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
38224954 (PubMed )
Supplement: gfad270_supplemental_file.pdf
Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants.
Shitamori F et al.
Journal of Feline Medicine and Surgery, 2023
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
37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Ambrosini E et al.
Genes, 2023
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Durkie M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0
34746741 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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