(Q45880092)

17 December 2017

title

Leber congenital amaurosis: from darkness to spotlight (English)

1 reference

17 December 2017

Leber congenital amaurosis

main subject

1 reference

Josseline Kaplan

1

0 references

publication date

1 September 2008

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17 December 2017

published in

Ophthalmic Genetics

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17 December 2017

volume

29

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17 December 2017

issue

3

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17 December 2017

page(s)

92-98

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17 December 2017

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

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%2F13816810802232768

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

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%2F13816810802232768

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

The retinal ciliopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810802232768

10.1080/13816810802232768

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

PubMed ID

18766987

1 reference

17 December 2017