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Cone-rod dystrophy and a frameshift mutation in the PROM1 geneSynaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceCone and rod dysfunction in the NARP syndromeA new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.Coffee and doughnut maculopathy: a cause of acute central ring scotomas.Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).Variation in rod and cone density from the fovea to the mid-periphery in healthy human retinas using adaptive optics scanning laser ophthalmoscopyABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function.Association between genotype and phenotype in families with mutations in the ABCA4 gene.Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaMutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
P2860
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P2860
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
@zh-hant
name
Clinical subtypes of cone-rod dystrophy.
@en
type
label
Clinical subtypes of cone-rod dystrophy.
@en
prefLabel
Clinical subtypes of cone-rod dystrophy.
@en
P2093
P1433
P1476
Clinical subtypes of cone-rod dystrophy.
@en
P2093
D J Derlacki
G A Fishman
K R Alexander
N S Peachey
P304
P356
10.1001/ARCHOPHT.1993.01090060069025
P407
P577
1993-06-01T00:00:00Z