(Q34301524)

1 August 2017

title

Mutations in the Norrie disease gene (English)

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1 August 2017

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3

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1 August 2017

Xandra O. Breakefield

series ordinal

4

object named as

Breakefield XO

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1 August 2017

Schuback DE

1

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1 August 2017

Chen ZY

series ordinal

2

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1 August 2017

Sims KB

series ordinal

5

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1 August 2017

publication date

1 January 1995

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1 August 2017

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1 August 2017

volume

5

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1 August 2017

issue

4

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1 August 2017

page(s)

285-292

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Expression of cyr61, a growth factor-inducible immediate-early gene

1 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.1380050403

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Mutations in the candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Isolation and characterization of a candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Norrie disease gene: characterization of deletions and possible function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

How sensitive is PCR-SSCP?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

A structural superfamily of growth factors containing a cystine knot motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

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/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Trinucleotide repeat instability: when and where?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Identification of a phorbol ester-repressible v-src-inducible gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Monoamine oxidase deficiency in males with an X chromosome deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

A new method for predicting signal sequence cleavage sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050403

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050403

1 reference

1 August 2017

1 reference