(Q45163699)

10 December 2017

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations (English)

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10 December 2017

Karina Paunescu

1

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10 December 2017

Bettina Wabbels

series ordinal

2

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10 December 2017

Markus N Preising

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3

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10 December 2017

Birgit Lorenz

series ordinal

4

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10 December 2017

24 November 2004

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Graefe's Archive for Clinical and Experimental Ophthalmology

10 December 2017

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10 December 2017

243

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10 December 2017

5

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10 December 2017

417-426

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https://scigraph.springernature.com/pub.10.1007/s00417-004-1020-x

10 December 2017

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cites work

Visual acuity and visual field impairment in Usher syndrome.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00417-004-1020-X

Clinical course and visual function in a family with mutations in the RPE65 gene

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00417-004-1020-X

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00417-004-1020-X

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

21 January 2018

1 reference

12 December 2020

Analysis of three genes in Leber congenital amaurosis in Indonesian patients

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12 December 2020

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

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12 December 2020

Physiology of cumulative defect curves; consequences in glaucoma perimetry

1 reference

12 December 2020

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

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12 December 2020

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

1 reference

12 December 2020

Mutations in RPE65 cause Leber's congenital amaurosis

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12 December 2020

Patterns of visual field progression in patients with retinitis pigmentosa

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12 December 2020

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

1 reference

12 December 2020

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

1 reference

12 December 2020

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

1 reference

12 December 2020

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

1 reference

12 December 2020

Frequency of optic disc or parapapillary nerve fiber layer drusen in retinitis pigmentosa

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

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12 December 2020

Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

1 reference

12 December 2020

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

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12 December 2020

Measurement of Goldmann visual fields in older children who received cryotherapy as infants for threshold retinopathy of prematurity

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12 December 2020

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

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12 December 2020

Retinyl esters are the substrate for isomerohydrolase.

1 reference

12 December 2020

The Briard dog: a new animal model of congenital stationary night blindness

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12 December 2020

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene therapy restores vision in a canine model of childhood blindness

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12 December 2020

A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation

1 reference

12 December 2020

Retinal dystrophy or 'congenital stationary night blindness' in the Briard dog

1 reference

12 December 2020

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

1 reference

12 December 2020

Distance and near visual acuity, contrast sensitivity, and visual fields of 10-year-old children

1 reference

12 December 2020

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

1 reference

12 December 2020

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions

1 reference

12 December 2020

10.1007/S00417-004-1020-X

Identifiers

DOI

1 reference

10 December 2017

1 reference