An animal model for Norrie disease (ND): gene targeting of the mouse ND gene (Q48067506)

8 February 2018

title

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene (English)

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8 February 2018

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8

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author name string

Berger W

1

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van de Pol D

2

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Bächner D

3

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Oerlemans F

4

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Winkens H

5

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Hameister H

6

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Wieringa B

7

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Ropers HH

9

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publication date

1 January 1996

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8 February 2018

published in

Human Molecular Genetics

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volume

5

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issue

1

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page(s)

51-59

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Norrie's disease--differential diagnosis and treatment

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Isolation of a candidate gene for Norrie disease by positional cloning

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Isolation and characterization of a candidate gene for Norrie disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Mutations in the candidate gene for Norrie disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

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/10.1093%2FHMG%2F5.1.51

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/10.1093%2FHMG%2F5.1.51

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/10.1093%2FHMG%2F5.1.51

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

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/10.1093%2FHMG%2F5.1.51

Targeting of the creatine kinase M gene in embryonic stem cells using isogenic and nonisogenic vectors

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

A structural superfamily of growth factors containing a cystine knot motif

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Transforming-growth-factor-β activation elements in the distal promoter regions of the rat α1 type I collagen gene

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.51

Modulation of gene activity by consecutive gene targeting of one creatine kinase M allele in mouse embryonic stem cells

21 January 2018

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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/10.1093%2FHMG%2F5.1.51

21 January 2018

Identifiers

DOI

10.1093/HMG/5.1.51

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8 February 2018

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8 February 2018