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Retinitis pigmentosa and allied conditions today: a paradigm of translational research
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scholarly article
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Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
review article
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Europe PubMed Central
title
Retinitis pigmentosa and allied conditions today: a paradigm of translational research
(English)
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Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
main subject
retinitis pigmentosa
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author
Carmen Ayuso
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1
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Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
author name string
Jose M Millan
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2
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Europe PubMed Central
PMC publication ID
2887078
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
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4 February 2020
publication date
27 May 2010
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Europe PubMed Central
PMC publication ID
2887078
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retrieved
4 February 2020
published in
Genome Medicine
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Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
volume
2
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Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
page(s)
34
1 reference
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Europe PubMed Central
PMC publication ID
2887078
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
exact match
https://scigraph.springernature.com/pub.10.1186/gm155
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Molecular characterization of retinitis pigmentosa in Saudi Arabia
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Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs
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Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
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Prospects for retinal gene replacement therapy.
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Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa
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28 July 2018
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
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Success in sight: The eyes have it! Ocular gene therapy trials for LCA look promising
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Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?
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28 July 2018
Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.
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28 July 2018
Safety and efficacy of gene transfer for Leber's congenital amaurosis
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28 July 2018
A review of the potential to restore vision with stem cells
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28 July 2018
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients
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28 July 2018
Perspective on genes and mutations causing retinitis pigmentosa
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28 July 2018
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Development of a genotyping microarray for Usher syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Application of encapsulated cell technology for retinal degenerative diseases
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28 July 2018
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
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PubMed Central
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28 July 2018
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa
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28 July 2018
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform
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PubMed Central
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28 July 2018
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
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PubMed Central
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28 July 2018
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor
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28 July 2018
Inherited retinal degenerations: therapeutic prospects
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28 July 2018
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
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PubMed Central
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28 July 2018
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures
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PubMed Central
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28 July 2018
Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa
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28 July 2018
A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Population genetic studies of retinitis pigmentosa.
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PubMed Central
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28 July 2018
A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity
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PubMed Central
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28 July 2018
Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Retinitis pigmentosa in South Africa
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PubMed Central
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28 July 2018
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
A retrospective study of registered retinitis pigmentosa patients in The Netherlands
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
Genetic segregation analysis of retinitis pigmentosa
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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28 July 2018
AAV-mediated knockdown of peripherin-2 in vivo using miRNA-based hairpins
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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29 October 2018
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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29 October 2018
Effect of gene therapy on visual function in Leber's congenital amaurosis
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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29 October 2018
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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29 October 2018
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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29 October 2018
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2887078
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29 October 2018
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
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PubMed Central
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29 October 2018
Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants
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PubMed Central
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29 October 2018
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles
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29 October 2018
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29 October 2018
On the heredity of retinitis pigmentosa
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29 October 2018
Retinitis pigmentosa without pigment
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PubMed Central
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29 October 2018
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa
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10 December 2018
[Biometric study of pigmentary retinopathy.]
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/20519033
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
[Waardenburg's syndrome]
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/20519033
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/20519033
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based on heuristic
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[Distribution of the frequency of various Mendelian modes of inheritance in families with retinopathia pigmentosa. Results of an evaluation of the RP register of the Munster University Ophthalmology Clinic]
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/20519033
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based on heuristic
inferred from PubMed ID database lookup
Risk Factors for Genetic Typing and Detection in Retinitis Pigmentosa
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/20519033
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Prevalence of retinitis pigmentosa in South Indian population aged above 40 years
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/20519033
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1186/GM155
1 reference
stated in
Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
Dimensions Publication ID
1031474007
0 references
PMC publication ID
2887078
1 reference
stated in
Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
PubMed publication ID
20519033
1 reference
stated in
Europe PubMed Central
PMC publication ID
2887078
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20519033%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
ResearchGate publication ID
44645633
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