(Q36880400)

16 August 2017

Type of PKD1 mutation influences renal outcome in ADPKD. (English)

1 reference

16 August 2017

Emilie Cornec-Le Gall

1 reference

16 August 2017

Marie-Pierre Audrézet

1 reference

16 August 2017

Jian-Min Chen

1 reference

16 August 2017

Maryvonne Hourmant

1 reference

16 August 2017

Marie-Pascale Morin

1 reference

16 August 2017

Régine Perrichot

1 reference

16 August 2017

Christophe Charasse

1 reference

16 August 2017

Bassem Whebe

1 reference

16 August 2017

Eric Renaudineau

1 reference

16 August 2017

Philippe Jousset

1 reference

16 August 2017

Marie-Paule Guillodo

1 reference

16 August 2017

Anne Grall-Jezequel

1 reference

16 August 2017

Philippe Saliou

1 reference

16 August 2017

Claude Férec

1 reference

16 August 2017

Yannick Le Meur

1 reference

16 August 2017

21 February 2013

1 reference

Journal of the American Society of Nephrology

16 August 2017

1 reference

16 August 2017

1 reference

16 August 2017

1 reference

16 August 2017

1006-1013

1 reference

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

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

SIFT web server: predicting effects of amino acid substitutions on proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

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=3665389

Low birth weight is associated with earlier onset of end-stage renal disease in Danish 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=3665389

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=3665389

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=3665389

MutationTaster evaluates disease-causing potential of sequence alterations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Determinants of renal disease variability 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=3665389

Novel method for genomic analysis of PKD1 and PKD2 mutations 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=3665389

GJB2 mutations and degree of hearing loss: a multicenter study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

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=3665389

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Autosomal dominant polycystic kidney disease in the 1980's

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

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=3665389

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

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=3665389

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Genotype-phenotype correlations in X-linked myotubular myopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665389

Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23431072

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23431072

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23431072

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2012070650

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23431072

1 reference