(Q37955772)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Retinal dystrophies and gene therapy (English)

1 reference

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16 January 2020

0 references

4

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16 January 2020

author name string

Venki Sundaram

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Anthony T Moore

series ordinal

2

1 reference

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16 January 2020

Robin R Ali

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

15 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

171

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

5

1 reference

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16 January 2020

page(s)

757-765

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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

16 January 2020

cites work

1 reference

12 December 2020

Nonviral ocular gene therapy: assessment and future directions

1 reference

12 December 2020

Histopathology of Best's macular dystrophy

1 reference

12 December 2020

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

1 reference

12 December 2020

Recombinant AAV-mediated gene transfer to the retina: gene therapy perspectives

1 reference

12 December 2020

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

1 reference

12 December 2020

X-linked retinoschisis: an update

1 reference

12 December 2020

Macular spectral-domain optical coherence tomography in patients with X linked retinoschisis

1 reference

12 December 2020

In utero gene therapy rescues vision in a murine model of congenital blindness

1 reference

12 December 2020

Cell transplantation strategies for retinal repair.

1 reference

12 December 2020

State-of-the-art lentiviral vectors for research use: risk assessment and biosafety recommendations

1 reference

12 December 2020

Stable rAAV-mediated transduction of rod and cone photoreceptors in the canine retina

1 reference

12 December 2020

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

1 reference

12 December 2020

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

1 reference

12 December 2020

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

1 reference

12 December 2020

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

12 December 2020

Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

1 reference

12 December 2020

Retinal prostheses: current challenges and future outlook

1 reference

12 December 2020

Prospects for retinal gene replacement therapy.

1 reference

12 December 2020

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

12 December 2020

High-resolution in vivo imaging in achromatopsia.

1 reference

12 December 2020

Natural history of phenotypic changes in Stargardt macular dystrophy

1 reference

12 December 2020

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

1 reference

12 December 2020

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

1 reference

12 December 2020

Identification of the gene responsible for Best macular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Immune responses limit adenovirally mediated gene expression in the adult mouse eye.

1 reference

12 December 2020

Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state

1 reference

12 December 2020

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

1 reference

12 December 2020

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

1 reference

12 December 2020

Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse

1 reference

12 December 2020

The cone dysfunction syndromes

1 reference

12 December 2020

Effective gene therapy with nonintegrating lentiviral vectors

1 reference

12 December 2020

The vitelliform macular dystrophy protein defines a new family of chloride channels

1 reference

12 December 2020

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

1 reference

12 December 2020

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

1 reference

12 December 2020

Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene therapy rescues cone function in congenital achromatopsia

1 reference

12 December 2020

Restoration of cone vision in a mouse model of achromatopsia

1 reference

12 December 2020

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

1 reference

12 December 2020

Electroretinograms in patients with achromatopsia

1 reference

12 December 2020

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

12 December 2020

The molecular basis of human retinal and vitreoretinal diseases

1 reference

12 December 2020

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

1 reference

12 December 2020

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

1 reference

12 December 2020

Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice.

1 reference

12 December 2020

10.1007/S00431-011-1615-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22080959%20AND%20SRC:MED&resulttype=core&format=json

release_hbdzil6pojfudkpcwzie6lwczu

16 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hbdzil6pojfudkpcwzie6lwczu

24 November 2022

mapped directly with Wikidata item

1 reference