(Q34350444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families (English)

1 reference

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3 March 2020

13

1 reference

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3 March 2020

Daniel-G. Bichet

14

1 reference

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3 March 2020

10

Eliecer Coto

1 reference

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3 March 2020

author name string

Binu M Paul

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Mark B Consugar

2

1 reference

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3 March 2020

Moonnoh Ryan Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jamie L Sundsbak

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Christina M Heyer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Sandro Rossetti

6

1 reference

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3 March 2020

Vickie J Kubly

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Katharina Hopp

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Vicente E Torres

9

1 reference

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3 March 2020

Maurizio Clementi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Nadja Bogdanova

12

1 reference

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3 March 2020

Peter C Harris

15

1 reference

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3 March 2020

language of work or name

English

0 references

publication date

12 June 2013

1 reference

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3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

85

1 reference

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3 March 2020

issue

2

1 reference

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3 March 2020

page(s)

383-392

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

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

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

A missense mutation in PKD1 attenuates the severity of renal disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Disruption of a ciliary B9 protein complex causes Meckel syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Investigating maturity onset diabetes of the young.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Polycystic kidney disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Unified criteria for ultrasonographic diagnosis of ADPKD.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Novel mutations in the duplicated region of PKD1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Is there a third gene for autosomal dominant polycystic kidney disease?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Gene conversion is a likely cause of mutation in PKD1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

The prevalence of simple renal and hepatic cysts detected by spiral computed tomography

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883953

Autosomal dominant polycystic kidney disease

27 October 2018

1 reference

12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Long-term follow-up of a family with autosomal dominant polycystic kidney disease type 3

1 reference

12 December 2020

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

1 reference

12 December 2020

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

PKD3—to be or not to be?

1 reference

12 December 2020

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

1 reference

12 December 2020

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

12 December 2020

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

1 reference

12 December 2020

Rapid MR imaging detection of renal cysts: age-based standards

1 reference

12 December 2020

Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

1 reference

12 December 2020

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

1 reference

12 December 2020

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

1 reference

12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1 reference

12 December 2020

Identifiers

DOI

10.1038/KI.2013.227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

23760289

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760289%20AND%20SRC:MED&resulttype=core&format=json