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
Kidney organoid models of polycystic kidney disease: challenges and future directions.
Afrin H et al.
American Journal of Physiology. Renal Physiology, 2025
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP et al.
Genes, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Identification of deleterious variants in nine polycystic kidney disease affected families.
Yuan J et al.
Gene, 2024
Genetics of cystogenesis in base-edited human organoids reveal therapeutic strategies for polycystic kidney disease.
Vishy CE et al.
Cell Stem Cell, 2024
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 2024
Long-Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False-Positive Exon Deletion Indicated by WES and MLPA.
Qiu X et al.
Human Mutation, 2024
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing.
Lin T et al.
Journal of Assisted Reproduction and Genetics, 2023
Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.
Shi WH et al.
Frontiers in Endocrinology, 2023
[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease].
Li H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.
Yan Z et al.
Frontiers in Genetics, 2022
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations.
Losekoot M et al.
Kidney International Reports, 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical Interpretation of Sequence Variants.
Zhang J et al.
Current Protocols in Human 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
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T et al.
Molecular Genetics & Genomic Medicine, 2019
Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.
Berckmoes V et al.
Human Reproduction (oxford, England), 2019
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
Pandita S et al.
Journal of Human Genetics, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Audrézet MP et al.
Human Mutation, 2012
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
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.
Yu C et al.
Bmc Medical Genetics, 2011
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2007
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
Phakdeekitcharoen B et al.
Journal of the American Society of Nephrology : Jasn, 2001
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S et al.
American Journal of Human Genetics, 2001
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
Phakdeekitcharoen B et al.
Kidney International, 2000