(Q21203028)

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Retinitis pigmentosa

scientific article

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scholarly article

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3 references

22 April 2019

25 April 2019

18 July 2020

Retinitis pigmentosa (English)

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retinitis pigmentosa

3 references

22 April 2019

25 April 2019

18 July 2020

fundus dystrophy

1 reference

18 July 2020

author name string

Christian Hamel

1

author given names

Christian

author last names

Hamel

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

11 October 2006

3 references

22 April 2019

25 April 2019

18 July 2020

Orphanet Journal of Rare Diseases

3 references

22 April 2019

25 April 2019

18 July 2020

1

0 references

1

0 references

40

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copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

18 July 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/1750-1172-1-40

0 references

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

19 March 2017

Reductions in Serum Vitamin A Arrest Accumulation of Toxic Retinal Fluorophores: A Potential Therapy for Treatment of Lipofuscin-Based Retinal Diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

24 March 2017

Why photoreceptors die (and why they don't).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Identification and characterization of rod-derived cone viability factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Intravitreous transplantation of encapsulated fibroblasts secreting the human fibroblast growth factor 2 delays photoreceptor cell degeneration in Royal College of Surgeons rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Population genetic studies of retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

On the heredity of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Usher syndrome: definition and estimate of prevalence from two high-risk populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Fundus albipunctatus associated with cone dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

12 September 2017

Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

27 September 2017

Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

27 September 2017

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

27 September 2017

The association between visual acuity and central retinal thickness in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Disease course of patients with pericentral retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

[Molecular updates on Usher syndrome]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Gene therapy restores vision in a canine model of childhood blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

A one-hit model of cell death in inherited neuronal degenerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1621055

29 November 2018

Treatment of Chronic Macular Edema With Acetazolamide

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited retinal dystrophy in the RCS rat: prevention of photoreceptor degeneration by pigment epithelial cell transplantation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vitamin A supplementation for retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of a mutant opsin gene increases the susceptibility of the retina to light damage

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficacy of dorzolamide hydrochloride in the management of chronic cystoid macular edema in patients with retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of caspase-3 in the retina of transgenic rats with the rhodopsin mutation s334ter during photoreceptor degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Le point sur le syndrome de Bardet-Biedl

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nephronophthisis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17032466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-1-40

1 reference

Consolidated OpenCitations Corpus – April 2017

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Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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