(Q36959926)

17 August 2017

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title

Molecular genetics of infantile-onset retinal dystrophies (English)

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17 August 2017

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Moradi P

1

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17 August 2017

Moore AT

series ordinal

2

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17 August 2017

publication date

1 October 2007

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17 August 2017

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17 August 2017

volume

21

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17 August 2017

issue

10

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17 August 2017

page(s)

1344-1351

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https://scigraph.springernature.com/pub.10.1038/sj.eye.6702843

17 August 2017

exact match

0 references

cites work

The cone dysfunction syndromes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Genetic basis of total colourblindness among the Pingelapese islanders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

CNGA3 mutations in hereditary cone photoreceptor disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Color plates to help identify patients with blue cone monochromatism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Molecular genetics of inherited variation in human color vision

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Molecular genetics of human visual pigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Molecular genetics of human blue cone monochromacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

A locus control region adjacent to the human red and green visual pigment genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

A new mechanism in blue cone monochromatism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Severe visual impairment and blindness in children in the UK.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mental retardation in amaurosis congenita of Leber.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Classification of congenital and early onset retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

High hyperopia in Leber's congenital amaurosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in the CRB1 gene cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Molecular genetics of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Clinical phenotypes in carriers of Leber congenital amaurosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Long-term preservation of cortically dependent visual function in RCS rats by transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Subretinal transplantation of brain-derived precursor cells to young RCS rats promotes photoreceptor cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Retinal neuroprotection by growth factors: a mechanistic perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

CNTF+BDNF treatment and neuroprotective pathways in the rd1 mouse retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

CNTF induces dose-dependent alterations in retinal morphology in normal and rcd-1 canine retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Electroretinograms in patients with achromatopsia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Classification of complete and incomplete autosomal recessive achromatopsia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Autosomal dominant stationary night-blindness A large family rediscovered

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

A cGMP-gated current can control exocytosis at cone synapses

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Ueber Retinitis pigmentosa und angeborene Amaurose

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Gene therapy for Leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Functional and structural evaluation after AAV.RPE65 gene transfer in the canine model of Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Regulation of rod phototransduction machinery by ciliary neurotrophic factor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EYE.6702843

7 January 2021

Identifiers

DOI

10.1038/SJ.EYE.6702843

1 reference

17 August 2017

1 reference