Intrafamilial Variability of ADPKD

[1]  Y. Pei,et al.  Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease. , 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[2]  A. Paterson,et al.  Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. , 2018, Journal of the American Society of Nephrology : JASN.

[3]  M. Patterson,et al.  The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations. , 2018, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[4]  S. Somlo,et al.  Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. , 2018, American journal of human genetics.

[5]  C. Greenwood,et al.  Genetic architecture: the shape of the genetic contribution to human traits and disease , 2017, Nature Reviews Genetics.

[6]  D. Landsittel,et al.  Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease. , 2017, Kidney international.

[7]  R. Gansevoort,et al.  Tolvaptan in Later‐Stage Autosomal Dominant Polycystic Kidney Disease , 2017, The New England journal of medicine.

[8]  A. Chapman,et al.  New treatment paradigms for ADPKD: moving towards precision medicine , 2017, Nature Reviews Nephrology.

[9]  A. Paterson,et al.  Polycystic Kidney Disease without an Apparent Family History. , 2017, Journal of the American Society of Nephrology : JASN.

[10]  Vicente E. Torres,et al.  A Drug Development Tool for Trial Enrichment in Patients With Autosomal Dominant Polycystic Kidney Disease , 2017, Kidney international reports.

[11]  Kaleab Z. Abebe,et al.  Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial , 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[12]  Marie E. Edwards,et al.  Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. , 2016, American journal of human genetics.

[13]  A. Paterson,et al.  Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. , 2016, Journal of the American Society of Nephrology : JASN.

[14]  Kaleab Z. Abebe,et al.  Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease. , 2016, Journal of the American Society of Nephrology : JASN.

[15]  M. Haider,et al.  Imaging-based diagnosis of autosomal dominant polycystic kidney disease. , 2015, Journal of the American Society of Nephrology : JASN.

[16]  C. Wanner,et al.  Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe: prevalence and survival--an analysis of data from the ERA-EDTA Registry. , 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[17]  Eiji Higashihara,et al.  Tolvaptan in patients with autosomal dominant polycystic kidney disease. , 2012, The New England journal of medicine.

[18]  J. Jonsson,et al.  Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. , 2011, Journal of the American Society of Nephrology : JASN.

[19]  A. Paterson,et al.  Genetic variation of DKK3 may modify renal disease severity in ADPKD. , 2010, Journal of the American Society of Nephrology : JASN.

[20]  L. Stevens,et al.  Estimating GFR using the CKD Epidemiology Collaboration (CKD-EPI) creatinine equation: more accurate GFR estimates, lower CKD prevalence estimates, and better risk predictions. , 2010, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[21]  A. Paterson,et al.  Family history of renal disease severity predicts the mutated gene in ADPKD. , 2009, Journal of the American Society of Nephrology : JASN.

[22]  S. Özen,et al.  Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. , 2008, Kidney international.

[23]  Ann M. Johnson,et al.  Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. , 2005, Journal of the American Society of Nephrology : JASN.

[24]  X. Lens,et al.  Comparison between siblings and twins supports a role for modifier genes in ADPKD. , 2004, Kidney international.

[25]  B. Erickson,et al.  Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. , 2015, Journal of the American Society of Nephrology : JASN.