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
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Ambrosini E et al.
Genes, 2023
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.
Gulati A et al.
Kidney360, 2023
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR et al.
Jama, 2022
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Cornec-Le Gall E et al.
Journal of the American Society of Nephrology : Jasn, 2018
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Audrézet MP et al.
Journal of the American Society of Nephrology : Jasn, 2016
Select a paper to view details