Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
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Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapyQuantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomographyBothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234WStargardt disease: clinical features, molecular genetics, animal models and therapeutic optionsEpigenomic landscapes of retinal rods and conesCone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease.Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.Quantitative fundus autofluorescence in recessive Stargardt diseaseQuantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.Evaluation of macular abnormalities in Stargardt's disease using optical coherence tomography and scanning laser ophthalmoscope microperimetry.Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinalAbnormality in the external limiting membrane in early Stargardt diseaseSimple and complex ABCR: genetic predisposition to retinal disease.Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred populationA comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.Loss of peripapillary sparing in non-group I Stargardt disease.Association of dark-adapted visual function with retinal structural changes in patients with Stargardt disease.The external limiting membrane in early-onset Stargardt disease.Structural and genetic assessment of the ABCA4-associated optical gap phenotype.Genetic and clinical analysis of ABCA4-associated disease in African American patients.A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depressionThe bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization.Clinical and molecular characteristics of childhood-onset Stargardt disease.Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt DiseaseFlecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence TomographyPredicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatusCorrelation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.Light and inherited retinal degeneration.Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease.Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.Macular pigment and lutein supplementation in ABCA4-associated retinal degenerationsABCA4 disease progression and a proposed strategy for gene therapy
P2860
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P2860
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Variation of clinical expressi ...... ce variations in the ABCR gene
@ast
Variation of clinical expressi ...... ce variations in the ABCR gene
@en
Variation of clinical expressi ...... ce variations in the ABCR gene
@nl
type
label
Variation of clinical expressi ...... ce variations in the ABCR gene
@ast
Variation of clinical expressi ...... ce variations in the ABCR gene
@en
Variation of clinical expressi ...... ce variations in the ABCR gene
@nl
prefLabel
Variation of clinical expressi ...... ce variations in the ABCR gene
@ast
Variation of clinical expressi ...... ce variations in the ABCR gene
@en
Variation of clinical expressi ...... ce variations in the ABCR gene
@nl
P2093
P3181
P1433
P1476
Variation of clinical expressi ...... ce variations in the ABCR gene
@en
P2093
D J Derlacki
G A Fishman
H L Haines
R R Hockey
P304
P3181
P356
10.1001/ARCHOPHT.117.4.504
P407
P577
1999-04-01T00:00:00Z