A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy (Q24321645)

nervous system development

GOA release 2020-03-11

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GOA release 2020-03-11

Norrie disease

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exudative vitreoretinopathy

inferred from title

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inferred from title

author

Xandra O. Breakefield

6

object named as

X O Breakefield

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author name string

Z Y Chen

1

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E M Battinelli

2

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A Fielder

3

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S Bundey

4

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K Sims

5

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I W Craig

Familial exudative vitreoretinopathy

7

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language of work or name

English

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publication date

October 1993

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published in

Nature Genetics

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volume

5

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issue

2

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page(s)

180-3

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cites work

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Familial exudative vitreoretinopathy. An expanded view

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Autosomal dominant exudative vitreoretinopathy

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

X-Linked Recessive Familial Exudative Vitreoretinopathy

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Monoamine oxidase deficiency in males with an X chromosome deletion

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Norrie disease resulting from a gene deletion: clinical features and DNA studies

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Characterization of a YAC containing part or all of the Norrie disease locus

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Isolation of a candidate gene for Norrie disease by positional cloning

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Isolation and characterization of a candidate gene for Norrie disease

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Mutations in the candidate gene for Norrie disease

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age

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https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Norrie disease gene: characterization of deletions and possible function

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Assembly and routing of von Willebrand factor variants: the requirements for disulfide-linked dimerization reside within the carboxy-terminal 151 amino acids

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

A medley of retinal dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Primary Retinal Dysplasia Transmitted as X-Chromosome-Linked Recessive Disorder

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Organization of the human monoamine oxidase genes and long-range physical mapping around them

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-180

7 January 2021

Identifiers

DOI

10.1038/NG1093-180

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Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1016691248

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Fatcat ID

release_6bz4iny7lnhpzgyztekjyfsrwu

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1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

8252044

1 reference

Consolidated OpenCitations Corpus – April 2017