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

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3 March 2020

13

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Daniel-G. Bichet

14

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10

Eliecer Coto

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author name string

Binu M Paul

1

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Mark B Consugar

2

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Moonnoh Ryan Lee

3

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Jamie L Sundsbak

4

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Christina M Heyer

5

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Sandro Rossetti

6

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Vickie J Kubly

7

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Katharina Hopp

8

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Vicente E Torres

9

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Maurizio Clementi

11

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Nadja Bogdanova

12

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Peter C Harris

15

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language of work or name

English

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publication date

12 June 2013

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3 March 2020

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volume

85

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issue

2

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page(s)

383-392

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

3 March 2020

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Unified criteria for ultrasonographic diagnosis of ADPKD.

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

6 July 2018

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

6 July 2018

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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

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

6 July 2018

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

6 July 2018

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Novel mutations in the duplicated region of PKD1 gene

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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Gene conversion is a likely cause of mutation in PKD1.

6 July 2018

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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

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6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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27 October 2018

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Autosomal dominant polycystic kidney disease

27 October 2018

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12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

PKD3—to be or not to be?

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12 December 2020

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

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12 December 2020

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

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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

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3 March 2020

PubMed publication ID

23760289

1 reference

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