(Q38985148)

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Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

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scholarly article

1 reference

Europe PubMed Central

8 September 2017

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene (English)

1 reference

Europe PubMed Central

8 September 2017

retinal degeneration

1 reference

based on heuristic

inferred from title

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based on heuristic

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based on heuristic

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4

object named as

Aki Kawasaki

1 reference

Europe PubMed Central

8 September 2017

François-Xavier Borruat

8

object named as

François-Xavier Borruat

1 reference

Europe PubMed Central

8 September 2017

author name string

Leila El Matri

1

1 reference

Europe PubMed Central

8 September 2017

Aude Ambresin

2

1 reference

Europe PubMed Central

8 September 2017

Daniel F Schorderet

3

1 reference

Europe PubMed Central

8 September 2017

Mathias W Seeliger

5

1 reference

Europe PubMed Central

8 September 2017

Andreas Wenzel

6

1 reference

Europe PubMed Central

8 September 2017

Yvan Arsenijevic

7

1 reference

Europe PubMed Central

8 September 2017

Francis L Munier

9

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Europe PubMed Central

8 September 2017

language of work or name

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publication date

28 February 2006

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Europe PubMed Central

8 September 2017

Graefe's Archive for Clinical and Experimental Ophthalmology

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Europe PubMed Central

8 September 2017

244

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Europe PubMed Central

8 September 2017

9

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Europe PubMed Central

8 September 2017

1104-1112

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Europe PubMed Central

8 September 2017

https://scigraph.springernature.com/pub.10.1007/s00417-005-0096-2

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS00417-005-0096-2

21 January 2018

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1007%2FS00417-005-0096-2

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and histopathologic findings in clumped pigmentary retinal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of Leber congenital amaurosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's congenital amaurosis: an update.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinyl esters are the substrate for isomerohydrolase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/16518657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00417-005-0096-2

1 reference

Europe PubMed Central

8 September 2017

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0 references

1 reference

Europe PubMed Central

8 September 2017

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0 references

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