Associated Papers
Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.
Zhou C et al.
Bmc Nephrology, 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
40428294 (PubMed )
Supplement: genes-16-00472-s001.zip › TableS2.xlsx › TableS2
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_MOESM1_ESM.pdf
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.
Stippel M et al.
Frontiers in Genetics, 2021
34122504 (PubMed )
Supplement: Data_Sheet_1.xlsx › Index_cases_not_in_manuscript
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
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