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
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
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
27499327 (PubMed )
Supplement: srep30850-s7.xls › Sheet1
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM et al.
Kidney International, 2014
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.
Reiterová J et al.
Bmc Nephrology, 2013
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
Novel mutations in the duplicated region of PKD1 gene.
Perrichot R et al.
European Journal of Human Genetics : Ejhg, 2000
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