ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
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Cone rod dystrophiesGene therapy rescues cone function in congenital achromatopsia.Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesExome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseRole of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases.Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinalRecovery of rod photoresponses in ABCR-deficient mice.Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred populationDefective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationPeripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.Clinical and molecular characteristics of childhood-onset Stargardt disease.Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrastPresentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.Reduced macular function in ABCA4 carriers.Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.Macular pigment and lutein supplementation in ABCA4-associated retinal degenerationsABCA4 disease progression and a proposed strategy for gene therapyAssociation between genotype and phenotype in families with mutations in the ABCA4 gene.Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.Allelic and phenotypic heterogeneity in ABCA4 mutations.Juvenile-onset macular degeneration and allied disordersMicroarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.Historical evolution in the understanding of Stargardt macular dystrophy.Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogsSorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral-domain optical coherence tomography.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.
P2860
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P2860
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
@en
type
label
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
@en
prefLabel
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
@en
P2093
P1433
P1476
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
@en
P2093
Chris M Taylor
David A Eliason
Deborah J Derlacki
Gerald A Fishman
Martin Lindeman
P304
P356
10.1001/ARCHOPHT.121.6.851
P407
P577
2003-06-01T00:00:00Z