(Q34565859)

3 August 2017

title

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity (English)

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exudative vitreoretinopathy

3 August 2017

1 reference

1 reference

9

Susan M Carden

1 reference

3 August 2017

Liesel M FitzGerald

4

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Joanne L Dickinson

Joanne L Dickinson

1

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Kathryn P. Burdon

Kathryn P Burdon

6

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David A. Mackey

David A Mackey

11

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Jamie E Craig

7

Jamie E Craig

1 reference

3 August 2017

Michèle M Sale

2

1 reference

3 August 2017

Abraham Passmore

3

1 reference

3 August 2017

Catherine M Wheatley

5

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3 August 2017

Supaporn Tengtrisorn

8

1 reference

3 August 2017

Hector Maclean

10

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3 August 2017

language of work or name

1 reference

1 September 2006

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Clinical and Experimental Ophthalmology

3 August 2017

number of pages

7

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based on heuristic

inferred from page(s)

published in

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3 August 2017

volume

34

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3 August 2017

issue

7

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3 August 2017

page(s)

682-688

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A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Risk analysis of prethreshold retinopathy of prematurity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Retinopathy of prematurity: gone today, here tomorrow?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Mutations of the Norrie gene in Korean ROP infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Mutations in the Norrie disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

NDP gene mutations in 14 French families with Norrie disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

Analysis of the 5' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2006.01314.X

10.1111/J.1442-9071.2006.01314.X

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

1 reference