(Q28237552)

5

object named as

Frans P M Cremers

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Anneke den Hollander

3

object named as

Anneke I den Hollander

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author name string

Irma Lopez

2

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Rando Allikmets

Clinical and Experimental Ophthalmology

4

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language of work or name

English

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publication date

July 2007

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published in

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volume

35

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issue

5

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page(s)

473-85

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cites work

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/10.1111/J.1442-9071.2007.01534.X

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1442-9071.2007.01534.X

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1442-9071.2007.01534.X

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1442-9071.2007.01534.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1442-9071.2007.01534.X

Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1442-9071.2007.01534.X

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1442-9071.2007.01534.X

Gene therapy restores vision in a canine model of childhood blindness

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Molecular genetics of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Development of ERG responses: the ISCEV rod, maximal and cone responses in normal subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Mutations in the CRB1 gene cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

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/10.1111%2FJ.1442-9071.2007.01534.X

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Development of a genotyping microarray for Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2007.01534.X