The molecular biology of Norrie's disease (Q34317165)

1 August 2017

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title

The molecular biology of Norrie's disease (English)

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1 August 2017

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1

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1 August 2017

Redmond RM

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1 August 2017

publication date

1 January 1994

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1 August 2017

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1 August 2017

volume

8 ( Pt 5)

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1 August 2017

page(s)

491-496

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

1 August 2017

cites work

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https://api.crossref.org/works/10.1038/EYE.1994.124

Positional cloning: let's not call it reverse anymore

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

Isolation of a candidate gene for Norrie disease by positional cloning

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

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

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

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

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

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/10.1038/EYE.1994.124

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/10.1038/EYE.1994.124

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/EYE.1994.124

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

Isolation and characterization of a candidate gene for Norrie disease

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

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

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

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

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

Monoamine oxidase deficiency in males with an X chromosome deletion

21 January 2018

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https://api.crossref.org/works/10.1038/EYE.1994.124

7 January 2021

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus

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https://api.crossref.org/works/10.1038/EYE.1994.124

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038/EYE.1994.124

7 January 2021

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1038/EYE.1994.124

7 January 2021

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038/EYE.1994.124

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/EYE.1994.124

7 January 2021

Identifiers

DOI

10.1038/EYE.1994.124

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Dimensions Publication ID

1 August 2017

1037183730

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