Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein (Q46388418)

21 December 2017

title

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein (English)

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21 December 2017

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phenotypic heterogeneity

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2

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21 December 2017

author name string

Allen RC

1

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21 December 2017

Streb LM

3

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21 December 2017

Alsheikheh A

4

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21 December 2017

Stone EM

5

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21 December 2017

publication date

1 February 2006

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21 December 2017

published in

Eye

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21 December 2017

volume

20

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21 December 2017

issue

2

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21 December 2017

page(s)

234-241

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21 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.eye.6701840

exact match

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cites work

Isolation of a candidate gene for Norrie disease by positional cloning

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Isolation and characterization of a candidate gene for Norrie disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Norrie gene product is necessary for regression of hyaloid vessels

21 January 2018

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

21 January 2018

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

21 January 2018

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Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

21 January 2018

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Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

21 January 2018

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Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

21 January 2018

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

21 January 2018

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Mutant Frizzled 4 associated with vitreoretinopathy traps wild-type Frizzled in the endoplasmic reticulum by oligomerization

21 January 2018

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21 January 2018

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Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis

21 January 2018

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Norrie disease in a family with a manifesting female carrier.

21 January 2018

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Isolated Norrie disease in a female caused by a balanced translocation t(X,6).

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Localization of the Norrie disease gene mRNA by in situ hybridization.

21 January 2018

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Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity

21 January 2018

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Familial exudative vitreoretinopathy

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7 January 2021

Falciform fold, retinal detachment, and Norrie's disease.

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X-Linked Recessive Familial Exudative Vitreoretinopathy

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Familial exudative vitreoretinopathy. An expanded view

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7 January 2021

Autosomal dominant exudative vitreoretinopathy

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7 January 2021

Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred

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7 January 2021

Retinal involvement in familial exudative vitreoretinopathy

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7 January 2021

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

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7 January 2021

Molecular dissection of Norrie disease.

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7 January 2021

Identifiers

DOI

10.1038/SJ.EYE.6701840

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21 December 2017

PubMed ID

15776010

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21 December 2017