(Q24671479)

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31 March 2024

1 reference

10.1136/BJO.87.11.1413

https://api.crossref.org/works/10.1136/BJO.87.11.1413

31 March 2024

9

A. J. Hardcastle

1 reference

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31 March 2024

author name string

L. E. Allen

1

1 reference

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31 March 2024

I. Zito

2

1 reference

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31 March 2024

K. Bradshaw

3

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31 March 2024

R. J. Patel

4

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31 March 2024

A. C. Bird

5

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31 March 2024

F. Fitzke

6

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31 March 2024

J. R. Yates

7

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31 March 2024

D. Trump

8

1 reference

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31 March 2024

A. T. Moore

10

1 reference

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full work available at URL

31 March 2024

language of work or name

English

0 references

publication date

November 2003

0 references

https://bjo.bmj.com/content/bjophthalmol/87/11/1413.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14609846

https://europepmc.org/articles/PMC1771890

31 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14609846

https://europepmc.org/articles/PMC1771890?pdf=render

31 March 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14609846

https://syndication.highwire.org/content/doi/10.1136/bjo.87.11.1413

31 March 2024

1 reference

Crossref

DOI

10.1136/BJO.87.11.1413

https://api.crossref.org/works/10.1136/BJO.87.11.1413

British Journal of Ophthalmology

31 March 2024

published in

0 references

volume

87

0 references

issue

11

0 references

page(s)

1413-20

0 references

cites work

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

7 April 2017

1 reference

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The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

7 April 2017

1 reference

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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

7 April 2017

1 reference

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Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

The leucine-rich repeat: a versatile binding motif

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Congenital stationary night blindness with negative electroretinogram. A new classification

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Variable expressivity in X-linked congenital stationary night blindness

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Blue-on-yellow perimetry in the complete type of congenital stationary night blindness.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

Leucine-rich repeat glycoproteins of the extracellular matrix.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771890

[Analysis of the human electroretinogram]

28 November 2018

1 reference

12 December 2020

[The electroretinogram in deficiency hemeralopia]

1 reference

12 December 2020

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23

1 reference

12 December 2020

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families

1 reference

12 December 2020

On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness

1 reference

12 December 2020

Linkage analysis in X-linked congenital stationary night blindness

1 reference

12 December 2020