Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
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
Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study.
Kim S et al.
Medicina (kaunas, Lithuania), 2025
Interaction Proteomics of Polycystins 1 and 2 Reveal a Novel Role for the BLOC-1/BORC Lysosomal Positioning Complex.
Lukmani F et al.
Molecular & Cellular Proteomics : Mcp, 2025
Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.
Zhou C et al.
Bmc Nephrology, 2025
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Ercoskun P et al.
Clinical Genetics, 2025
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.
Ibel A et al.
Biorxiv : the Preprint Server for Biology, 2025
Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.
Liu X et al.
Clinical Kidney Journal, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.
Mallawaarachchi AC et al.
Npj Genomic Medicine, 2024
New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.
Ozyavuz Cubuk P et al.
Biochemical Genetics, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
Gene panel for Mendelian strokes.
Fang F et al.
Stroke and Vascular Neurology, 2020
Turner syndrome and autosomal dominant polycystic kidney disease.
Styer R et al.
Proceedings (baylor University. Medical Center), 2020
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.
Kataoka H et al.
Journal of Clinical Medicine, 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
Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.
Weydert C et al.
Pediatric Nephrology (berlin, Germany), 2019
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
Xu D et al.
Kidney & Blood Pressure Research, 2018
Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD.
de Almeida RM et al.
Human Genomics, 2016
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2014
OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts.
Jerman S et al.
Plos One, 2014
A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1.
Herbert BS et al.
Plos One, 2013
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P et al.
Journal of Molecular Medicine (berlin, Germany), 2005