Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency.
Zhou F et al.
American Journal of Obstetrics and Gynecology, 2025
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
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 testing in the assessment of living related kidney donors at risk of autosomal dominant polycystic kidney disease.
Simms RJ et al.
Transplantation, 2015
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
Thongnoppakhun W et al.
Bmc Medical Genetics, 2004
A complete mutation screen of the ADPKD genes by DHPLC.
Rossetti S et al.
Kidney International, 2002
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