(Q51006076)

26 March 2018

title

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene. (English)

1 reference

26 March 2018

1 reference

Kellner U

1

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26 March 2018

Fuchs S

2

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26 March 2018

Bornfeld N

3

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26 March 2018

Foerster MH

4

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26 March 2018

Gal A

5

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26 March 2018

publication date

1 June 1996

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26 March 2018

published in

Ophthalmic Genetics

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26 March 2018

volume

17

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26 March 2018

issue

2

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26 March 2018

page(s)

67-74

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26 March 2018

Isolation of a candidate gene for Norrie disease by positional cloning

cites work

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Isolation and characterization of a candidate gene for Norrie disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

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/10.3109%2F13816819609057873

Mutations in the candidate gene for Norrie disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

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/10.3109%2F13816819609057873

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Mutations in the Norrie disease gene: a new mutation in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Mutations in the Norrie disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Manifesting heterozygosity in Norrie's disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816819609057873

10.3109/13816819609057873

21 January 2018

Identifiers

DOI

1 reference

26 March 2018

1 reference

26 March 2018