Polycystic Kidney Disease without an Apparent Family History (Q40195826)

18 September 2017

title

Polycystic Kidney Disease without an Apparent Family History (English)

1 reference

polycystic kidney disease

18 September 2017

main subject

1 reference

Sarah R Senum

13

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Emilie Cornec-Le Gall

object named as

Emilie Cornec-Le Gall

4

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Andrew D. Paterson

object named as

Andrew D Paterson

15

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author name string

Ioan-Andrei Iliuta

1

1 reference

18 September 2017

Vinusha Kalatharan

2

1 reference

18 September 2017

Kairong Wang

3

1 reference

18 September 2017

John Conklin

5

1 reference

18 September 2017

Marina Pourafkari

6

1 reference

18 September 2017

Ryan Ting

7

1 reference

18 September 2017

Chen Chen

8

1 reference

18 September 2017

Alessia C Borgo

9

1 reference

18 September 2017

Ning He

10

1 reference

18 September 2017

Xuewen Song

11

1 reference

18 September 2017

Christina M Heyer

12

1 reference

18 September 2017

Young-Hwan Hwang

14

1 reference

18 September 2017

Peter C Harris

16

1 reference

18 September 2017

Korosh Khalili

17

1 reference

18 September 2017

York Pei

18

1 reference

18 September 2017

publication date

18 May 2017

1 reference

Journal of the American Society of Nephrology

18 September 2017

published in

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18 September 2017

volume

28

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18 September 2017

issue

9

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18 September 2017

page(s)

2768-2776

1 reference

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

18 September 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Somatic mosaicism: implications for disease and transmission genetics

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Somatic mosaicism in the human genome

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Imaging-based diagnosis of autosomal dominant polycystic kidney disease

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

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

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Type of PKD1 mutation influences renal outcome in ADPKD.

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Predicting the functional effect of amino acid substitutions and indels

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

A missense mutation in PKD1 attenuates the severity of renal disease

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Why kidneys fail in autosomal dominant polycystic kidney disease

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Diagnosis of autosomal-dominant polycystic kidney disease: an integrated approach

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

A method and server for predicting damaging missense mutations

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

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

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

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

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Unified criteria for ultrasonographic diagnosis of ADPKD.

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

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

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Normal values for renal length and volume as measured by magnetic resonance imaging.

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Predicting deleterious amino acid substitutions

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

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

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

1 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576926

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28522688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28522688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Somatic mosaicism and variable expressivity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28522688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2016090938

1 reference

18 September 2017

0 references

1 reference