(Q42659278)

4 November 2017

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. (English)

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congenital stationary night blindness

4 November 2017

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author name string

Bergen AA

1

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4 November 2017

Kestelyn P

2

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4 November 2017

Leys M

3

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4 November 2017

Meire F

4

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4 November 2017

language of work or name

English

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publication date

1 July 1994

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Journal of Medical Genetics

4 November 2017

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4 November 2017

31

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4 November 2017

7

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4 November 2017

580-582

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Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Congenital stationary night blindness with negative electroretinogram. A new classification

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Variable expressivity in X-linked congenital stationary night blindness

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Aland eye disease: linkage data

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049985

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7

27 May 2018

1 reference

12 December 2020

Linkage analysis in X-linked congenital stationary night blindness

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12 December 2020

[Analysis of the human electroretinogram]

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12 December 2020

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

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12 December 2020

A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome

1 reference

12 December 2020

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.7.580

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4 November 2017

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4 November 2017

1 reference