Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. (Q45106061)

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24 January 2020

title

Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes (English)

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polycystic kidney disease

24 January 2020

main subject

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13

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24 January 2020

author name string

Hartmut P H Neumann

1

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24 January 2020

Janina Bacher

2

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24 January 2020

Zinaida Nabulsi

3

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24 January 2020

Nadine Ortiz Brüchle

4

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24 January 2020

Michael M Hoffmann

5

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24 January 2020

Elke Schaeffner

6

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24 January 2020

Jens Nürnberger

7

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24 January 2020

Markus Cybulla

8

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24 January 2020

Jochen Wilpert

9

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24 January 2020

Peter Riegler

10

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24 January 2020

Robert Corradini

11

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24 January 2020

Annette Kraemer-Guth

12

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24 January 2020

Mercedes Nunez

14

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24 January 2020

Sven Gläsker

15

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24 January 2020

Klaus Zerres

16

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24 January 2020

Cordula Jilg

17

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24 January 2020

publication date

25 February 2012

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International Urology and Nephrology

24 January 2020

published in

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24 January 2020

volume

44

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24 January 2020

issue

6

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24 January 2020

page(s)

1753-1762

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Autosomal dominant polycystic kidney disease

24 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

Familial phenotype differences in PKD11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11255-012-0125-0

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

21 January 2018

1 reference

12 December 2020

Extrarenal manifestations of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

The spectrum of renal cysts in adulthood--discussion of eight cases

1 reference

12 December 2020

10.1007/S11255-012-0125-0

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22367170%20AND%20SRC:MED&resulttype=core&format=json

release_htjw2mhkevhhxf43u35gyigkiu

24 January 2020

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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