Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease (Q36944701)

17 August 2017

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease (English)

1 reference

autosomal dominant polycystic kidney disease

17 August 2017

1 reference

genotype-phenotype correlation

inferred from title

1 reference

autosomal dominant polycystic kidney

inferred from title

1 reference

1 reference

Young-Hwan Hwang

0 references

Andrew D Paterson

0 references

John Conklin

1 reference

17 August 2017

Winnie Chan

1 reference

17 August 2017

Nicole M Roslin

1 reference

17 August 2017

Jannel Liu

1 reference

17 August 2017

Ning He

1 reference

17 August 2017

Kairong Wang

1 reference

17 August 2017

Jamie L Sundsbak

1 reference

17 August 2017

Christina M Heyer

1 reference

17 August 2017

Masoom Haider

1 reference

17 August 2017

Peter C Harris

1 reference

17 August 2017

York Pei

1 reference

17 August 2017

9 October 2015

1 reference

Journal of the American Society of Nephrology

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

1861-1868

1 reference

Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe: prevalence and survival--an analysis of data from the ERA-EDTA Registry

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Type of PKD1 mutation influences renal outcome in ADPKD.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Predicting the functional effect of amino acid substitutions and indels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

A missense mutation in PKD1 attenuates the severity of renal disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Molecular diagnostics for autosomal dominant polycystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Modifier genes play a significant role in the phenotypic expression of PKD1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Comparison between siblings and twins supports a role for modifier genes in ADPKD.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Mechanisms and consequences of somatic mosaicism in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Unified criteria for ultrasonographic diagnosis of ADPKD.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Family history of renal disease severity predicts the mutated gene in ADPKD.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4884120

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

4 September 2018

1 reference

12 December 2020

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

1 reference

12 December 2020

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 years

1 reference

12 December 2020

Volume progression in polycystic kidney disease

1 reference

12 December 2020

Identifiers

DOI

10.1681/ASN.2015060648

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

26453610

1 reference