Associated Papers
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
The Link between Autosomal Dominant Polycystic Kidney Disease and Chromosomal Instability: Exploring the Relationship.
Chen PL et al.
International Journal of Molecular Sciences, 2024
The genetic spectrum of polycystic kidney disease in children.
Kocaaga A et al.
Revista Da Associacao Medica Brasileira (1992), 2023
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
Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.
Raj S et al.
Journal of Genetics, 2017
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
Stiburkova B et al.
The American Journal of the Medical Sciences, 2015
High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
Virzì GM et al.
Journal of Clinical Laboratory Analysis, 2014
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM et al.
Kidney International, 2014
Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.
Tan YC et al.
Biochimica Et Biophysica Acta, 2011
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2007
Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1.
Tazón-Vega B et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
Vouk K et al.
Bmc Medical Genetics, 2006
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
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
Reiterová J et al.
Human Mutation, 2002
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
Torra R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2000
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
Torra R et al.
American Journal of Human Genetics, 1999
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Torra R et al.
Kidney International, 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
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
Torra R et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].
Pérez-Oller L et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
[Epidemiological and molecular study of autosomal dominant polycystic kidney disease (ADPKD) in the province of Vicenza, Italy: possible founder effect?].
Corradi V et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 0