(Q46379161)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

review article

1 reference

title

Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

9 January 2020

main subject

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Isabelle Perrault

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Sylvie Gerber

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

S Hanein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

G Tanguy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

C Hamel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

J-L Dufier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

J Kaplan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

1 January 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

Journal Francais d'Ophtalmologie

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

98-105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

A gene for Leber's congenital amaurosis maps to chromosome 17p

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Molecular mechanism of visual transduction

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Isolation of human retinal genes: recoverin cDNA and gene

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

Recovery of visual functions in a mouse model of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981031-9

7 January 2021

10.1016/S0181-5512(05)81031-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15767905%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference