about
Visual function and cortical organization in carriers of blue cone monochromacyX-linked cone dystrophy caused by mutation of the red and green cone opsinsHomozygosity mapping of the Achromatopsia locus in the PingelapeseMutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosaRhodopsin mutations in autosomal dominant retinitis pigmentosaThe genetics of normal and defective color visionGenetic heterogeneity among blue-cone monochromatsAdrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizationsA new genetic locus for X linked progressive cone-rod dystrophyAdvances in understanding the molecular basis of the first steps in color visionRestoration of cone vision in a mouse model of achromatopsiaGenomic organization of duplicated short wave-sensitive and long wave-sensitive opsin genes in the green swordtail, Xiphophorus helleri.Cone and cone-rod dystrophies.Psychosocial genetics: an emerging scientific discipline.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.A single enhancer regulating the differential expression of duplicated red-sensitive opsin genes in zebrafish.Convergent evolution of the red- and green-like visual pigment genes in fish, Astyanax fasciatus, and human.Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genesAbnormalities in G protein-coupled signal transduction pathways in human disease.Blue cone monochromacy: causative mutations and associated phenotypes.Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaicOcular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness.Characterization of a novel form of X-linked incomplete achromatopsia.Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyCuring color blindness--mice and nonhuman primatesThree different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsBlue cone monochromacy: visual function and efficacy outcome measures for clinical trials.Evolution of cichlid vision via trans-regulatory divergence.Topography of the long- to middle-wavelength sensitive cone ratio in the human retina assessed with a wide-field color multifocal electroretinogram.Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsinIn vitro mutagenesis and the search for structure-function relationships among G protein-coupled receptorsLocalization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese familyThe cone dysfunction syndromes.Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.Identification of a locus control region for quadruplicated green-sensitive opsin genes in zebrafishColor vision testing.Molecular genetics of color-vision deficiencies.
P2860
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P2860
description
1989 nî lūn-bûn
@nan
1989 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Molecular genetics of human blue cone monochromacy.
@ast
Molecular genetics of human blue cone monochromacy.
@en
Molecular genetics of human blue cone monochromacy.
@nl
type
label
Molecular genetics of human blue cone monochromacy.
@ast
Molecular genetics of human blue cone monochromacy.
@en
Molecular genetics of human blue cone monochromacy.
@nl
prefLabel
Molecular genetics of human blue cone monochromacy.
@ast
Molecular genetics of human blue cone monochromacy.
@en
Molecular genetics of human blue cone monochromacy.
@nl
P2093
P356
P1433
P1476
Molecular genetics of human blue cone monochromacy.
@en
P2093
Bachynski B
Davenport CM
Hejtmancik JF
Maumenee IH
P304
P356
10.1126/SCIENCE.2788922
P407
P577
1989-08-01T00:00:00Z