(Q40972481)

English

Analysis of the 5' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression

scientific article published on February 1999

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Analysis of the 5' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

author name string

Kenyon JR

1

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

language of work or name

0 references

publication date

1 February 1999

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

227

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

181-188

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of blindness

1 reference

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7 January 2021

based on heuristic

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Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Norrie disease gene: characterization of deletions and possible function.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of a candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the Norrie disease gene

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A conserved retina-specific gene encodes a basic motif/leucine zipper domain

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2898%2900611-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0378-1119(98)00611-8

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

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