(Q35888828)

10 August 2017

1 reference

title

Leber congenital amaurosis: a genetic paradigm (English)

1 reference

Leber congenital amaurosis

10 August 2017

0 references

1 reference

Rando Allikmets

1

1 reference

10 August 2017

1 June 2004

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10 August 2017

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10 August 2017

25

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10 August 2017

2

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10 August 2017

67-79

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

10 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Molecular genetics of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Functional domains of the cone-rod homeobox (CRX) transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Genetic defects in vitamin A metabolism of the retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Identification of a novel protein interacting with RPGR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810490514261

10.1080/13816810490514261

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference

PubMed ID

15370538