about
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general populationDisruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyMutation of POC1B in a severe syndromic retinal ciliopathyMutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaUpdate on the genetics of bardet-biedl syndromeRapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophyCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentUnexpected novel relational links uncovered by extensive developmental profiling of nuclear receptor expressionIdentification of a common non-apoptotic cell death mechanism in hereditary retinal degenerationSpatiotemporal expression pattern of ceramide kinase-like in the mouse retinaMembrane protein transport in photoreceptors: the function of PDEδ: the Proctor lectureGeneration of three-dimensional retinal tissue with functional photoreceptors from human iPSCsMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsMutations 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 involvementNew mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophyV1 projection zone signals in human macular degeneration depend on task, not stimulus.Task-dependent V1 responses in human retinitis pigmentosaSuccessful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.Wild-type cone photoreceptors persist despite neighboring mutant cone degeneration.IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.Expression, purification and structural properties of ABC transporter ABCA4 and its individual domains.Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.Putting regeneration into regenerative medicine.Chaotic analysis of the electroretinographic signal for diagnosisA novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Cone outer segment extracellular matrix as binding domain for interphotoreceptor retinoid-binding protein.The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationMultifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet-Biedl syndrome.Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosisGenetics of photoreceptor degeneration and regeneration in zebrafish.AAV9 targets cone photoreceptors in the nonhuman primate retina.RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse modelHomozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Deletion of the p85alpha regulatory subunit of phosphoinositide 3-kinase in cone photoreceptor cells results in cone photoreceptor degeneration.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
name
Cone rod dystrophies
@ast
Cone rod dystrophies
@en
Cone rod dystrophies
@en-gb
Cone rod dystrophies
@nl
type
label
Cone rod dystrophies
@ast
Cone rod dystrophies
@en
Cone rod dystrophies
@en-gb
Cone rod dystrophies
@nl
prefLabel
Cone rod dystrophies
@ast
Cone rod dystrophies
@en
Cone rod dystrophies
@en-gb
Cone rod dystrophies
@nl
P2860
P3181
P356
P1476
Cone rod dystrophies
@en
P2093
Christian P Hamel
P2860
P2888
P3181
P356
10.1186/1750-1172-2-7
P407
P5008
P577
2007-02-01T00:00:00Z
P5875
P6179
1031509145