Associated Papers
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Halawi AA et al.
Kidney International Reports, 2023
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
Zhang Z et al.
Journal of the American Society of Nephrology : Jasn, 2021
PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
Xu D et al.
Clinical Genetics, 2021
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
Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
Zhang M et al.
Nephrology (carlton, Vic.), 2019
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
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.
Fencl F et al.
Pediatric Nephrology (berlin, Germany), 2009
PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease.
Gout AM et al.
Human Mutation, 2007
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
Stekrová J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
Koptides M et al.
Human Genetics, 2000
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.
Pei Y et al.
Journal of the American Society of Nephrology : Jasn, 1999
Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
Koptides M et al.
Human Molecular Genetics, 1999