(Q35590868)

9 August 2017

title

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus (English)

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9 August 2017

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M D Mohamed

1

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9 August 2017

N C Topping

2

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9 August 2017

H Jafri

3

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9 August 2017

Y Raashed

4

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9 August 2017

M A McKibbin

5

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9 August 2017

C F Inglehearn

6

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9 August 2017

language of work or name

English

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publication date

1 April 2003

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British Journal of Ophthalmology

9 August 2017

published in

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9 August 2017

volume

87

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9 August 2017

issue

4

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9 August 2017

page(s)

473-475

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

9 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

Mutations in the CRB1 gene cause Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

A novel locus for Leber congenital amaurosis on chromosome 14q24.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

Mechanisms of cell death in the inherited retinal degenerations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

A novel locus for Leber congenital amaurosis maps to chromosome 6q

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771622

ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS

26 September 2018

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12 December 2020

Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life

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12 December 2020

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

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12 December 2020

Concordance and recessive inheritance of Leber congenital amaurosis

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12 December 2020

Amaurosis congenita (Leber)

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12 December 2020

Identifiers

DOI

10.1136/BJO.87.4.473

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9 August 2017

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9 August 2017

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