Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis (Q33845544)

29 July 2017

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis (English)

1 reference

29 July 2017

0 references

Edwin M Stone

3

0 references

Robert Koenekoop

7

object named as

Robert K Koenekoop

1 reference

29 July 2017

Sirichai Pasadhika

1

1 reference

29 July 2017

Gerald A Fishman

2

1 reference

29 July 2017

Martin Lindeman

4

1 reference

29 July 2017

Ruth Zelkha

5

1 reference

29 July 2017

Irma Lopez

6

1 reference

29 July 2017

Mahnaz Shahidi

8

1 reference

29 July 2017

language of work or name

English

0 references

publication date

3 December 2009

1 reference

Investigative Ophthalmology Visual Science

29 July 2017

1 reference

29 July 2017

51

1 reference

29 July 2017

5

1 reference

29 July 2017

2608-2614

1 reference

describes a project that uses

29 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2868490/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Thickness profiles of retinal layers by optical coherence tomography image segmentation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Leber congenital amaurosis: genes, proteins and disease mechanisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Leber congenital amaurosis and its association with keratoconus and keratoglobus.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Yellowish flecks in Leber's congenital amaurosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

High hyperopia in Leber's congenital amaurosis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Successful RPE65 gene replacement and improved visual function in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Effect of gene therapy on visual function in Leber's congenital amaurosis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Evaluation of genotype-phenotype associations in leber congenital amaurosis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2868490

Mutational analysis and clinical correlation in Leber congenital amaurosis

29 October 2018

1 reference

12 December 2020

Macular colobomas in Leber's congenital amaurosis

1 reference

12 December 2020

Leber's congenital amaurosis

1 reference

12 December 2020

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

12 December 2020

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

1 reference

12 December 2020

[Leber congenital amaurosis: diagnosis, follow-up and differential diagnosis]

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.09-3734

1 reference

29 July 2017

1 reference

29 July 2017

1 reference