about
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyX-linked cone dystrophy caused by mutation of the red and green cone opsinsGene therapy rescues cone function in congenital achromatopsia.Shedding light on photophobiaType 3 deiodinase, a thyroid-hormone-inactivating enzyme, controls survival and maturation of cone photoreceptorsNeuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomalyAAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsiaMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementREPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Wild-type cone photoreceptors persist despite neighboring mutant cone degeneration.Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.Putting regeneration into regenerative medicine.A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.Blue cone monochromacy: causative mutations and associated phenotypes.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.A prospective longitudinal study of retinal structure and function in achromatopsia.Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone healthGenetics of photoreceptor degeneration and regeneration in zebrafish.The zebrafish pob gene encodes a novel protein required for survival of red cone photoreceptor cells.Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Clinical characteristics and current therapies for inherited retinal degenerationsLong-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapyIntegrity of the cone photoreceptor mosaic in oligocone trichromacy.Clinical course of cone dystrophy caused by mutations in the RPGR geneSpectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".Mutation of ATF6 causes autosomal recessive achromatopsia.Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients.Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyMolecular genetics of infantile-onset retinal dystrophies.Age-related cone abnormalities in zebrafish with genetic lesions in sonic hedgehog.Rod and rod-driven function in achromatopsia and blue cone monochromatism.Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.Retinal structure and function in achromatopsia: implications for gene therapy.Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A geneLighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
The cone dysfunction syndromes.
@ast
The cone dysfunction syndromes.
@en
type
label
The cone dysfunction syndromes.
@ast
The cone dysfunction syndromes.
@en
prefLabel
The cone dysfunction syndromes.
@ast
The cone dysfunction syndromes.
@en
P2093
P2860
P356
P1476
The cone dysfunction syndromes.
@en
P2093
M Michaelides
P2860
P304
P356
10.1136/BJO.2003.027102
P407
P577
2004-02-01T00:00:00Z