Associated Papers
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 2025
A Patient-Derived 3D Cyst Model of Polycystic Kidney Disease That Mimics Disease Development and Responds to Repurposing Candidates.
Meyer A et al.
Clinical and Translational Science, 2025
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.
Mallawaarachchi AC et al.
Npj Genomic Medicine, 2024
39702469 (PubMed )
Supplement: 41525_2024_452_MOESM3_ESM.xlsx › Sheet1
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
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-s4.xlsx › Sheet1
Mutational analysis within the 3' region of the PKD1 gene.
Badenas C et al.
Kidney International, 1999
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