Diagnosis in a patient with fundus albipunctatus and atypical fundus changes (Q30849883)

27 June 2017

Diagnosis in a patient with fundus albipunctatus and atypical fundus changes (English)

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27 June 2017

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Manal Hajali

1

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27 June 2017

Gerald A Fishman

2

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27 June 2017

Thaddeus P Dryja

3

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27 June 2017

Meredith O Sweeney

4

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27 June 2017

Martin Lindeman

5

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27 June 2017

24 October 2008

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Documenta Ophthalmologica

27 June 2017

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27 June 2017

118

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27 June 2017

3

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27 June 2017

233-238

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https://scigraph.springernature.com/pub.10.1007/s10633-008-9151-8

27 June 2017

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cites work

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

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Crossref

https://api.crossref.org/works/10.1007%2FS10633-008-9151-8

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene

21 January 2018

1 reference

12 December 2020

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

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12 December 2020

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus

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12 December 2020

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

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12 December 2020

Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study

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12 December 2020

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens

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12 December 2020

Night blindness revisited: from man to molecules. Proctor lecture

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12 December 2020

Activation of rhodopsin: new insights from structural and biochemical studies

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12 December 2020

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

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12 December 2020

A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens

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12 December 2020

Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina

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12 December 2020

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

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12 December 2020

Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26

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12 December 2020

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

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12 December 2020

11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus

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12 December 2020

Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens

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12 December 2020

Rod and cone dysfunction in carriers of X-linked retinitis pigmentosa.

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12 December 2020

Congenital stationary nightblindness

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12 December 2020

Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene

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12 December 2020

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene

1 reference

12 December 2020

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus

1 reference

12 December 2020

Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes

1 reference

12 December 2020

10.1007/S10633-008-9151-8

Identifiers

DOI

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Dimensions Publication ID

27 June 2017

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