(Q37281392)

English

Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function.

scientific article published on May 2009

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

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based on heuristic

inferred from title

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based on heuristic

inferred from title

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

author name string

Joaquin Tosi

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Ilene Tsui

2

1 reference

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26 January 2020

Stephen H Tsang

5

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26 January 2020

publication date

1 May 2009

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26 January 2020

Current Eye Research

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

34

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26 January 2020

5

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26 January 2020

395-400

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Europe PubMed Central

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26 January 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

Genetic testing for inherited eye disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

Towards understanding CRUMBS function in retinal dystrophies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

MPP5 recruits MPP4 to the CRB1 complex in photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

6 September 2017

MPP3 is recruited to the MPP5 protein scaffold at the retinal outer limiting membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

14 September 2017

Cellular localization of the MPP4 protein in the mammalian retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

14 September 2017

Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

26 June 2018

Preliminary results of gene therapy for retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

3 September 2018

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

3 September 2018

Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717950

3 September 2018

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

1 reference

https://api.crossref.org/works/10.1080%2F02713680902859639

21 January 2018

A novel mutation and phenotypes in phosphodiesterase 6 deficiency

1 reference

https://api.crossref.org/works/10.1080%2F02713680902859639

21 January 2018

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

https://api.crossref.org/works/10.1080%2F02713680902859639

21 January 2018

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

1 reference

https://api.crossref.org/works/10.1080%2F02713680902859639

21 January 2018

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection

1 reference

https://api.crossref.org/works/10.1080%2F02713680902859639

21 January 2018

Safety and efficacy of gene transfer for Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1080%2F02713680902859639

21 January 2018

Identifiers

10.1080/02713680902859639

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19401883%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

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