(Q45714648)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

polycystic kidney disease

7 December 2019

main subject

1 reference

based on heuristic

inferred from title

polycystic kidney disease 1

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Arseni Markoff

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

11

Luba Kalaydjieva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

Marie McCluskey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Tina Schiavello

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Janina Hantke

4

1 reference

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7 December 2019

Dora Angelicheva

5

1 reference

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7 December 2019

Nadja Bogdanova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Mark Thomas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Bernd Dworniczak

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Juergen Horst

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

language of work or name

1 reference

1 March 2002

1 reference

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7 December 2019

1 reference

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7 December 2019

volume

19

1 reference

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7 December 2019

issue

3

1 reference

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7 December 2019

page(s)

240-250

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857740%20AND%20SRC:MED&resulttype=core&format=json

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Autosomal dominant polycystic kidney disease: new information for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Novel mutations in the duplicated region of PKD1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Combining evolutionary information and neural networks to predict protein secondary structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

The human gene mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

The rate of progression of renal failure in ADPKD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Proof of "disease causing" mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and ade novo mutation in Hellenic polycystic kidney disease families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

The diagnosis and prognosis of autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Inheritance of a stable mutation in a family with early-onset disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Autosomal dominant polycystic kidney disease in Toronto

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

Spinal meningeal diverticula in autosomal dominant polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10045

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

https://api.crossref.org/works/10.1002%2FHUMU.10045