Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
暂无分享,去创建一个
J. Sahel | A. Cideciyan | E. Zrenner | P. Bernstein | S. West | J. Sunness | S. Mohand-Said | D. Birch | M. Michaelides | E. Traboulsi | H. Scholl | R. Strauss | I. Audo | A. Ervin | Kaoru Fujinami | J. Chiang | M. Marino | R. Wojciechowski | Samantha M Bomotti
[1] S. Tsang,et al. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration , 2017, Journal of Medical Genetics.
[2] Dorothy A. Thompson,et al. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. , 2017, American journal of human genetics.
[3] F. Grassmann,et al. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs , 2017, Investigative ophthalmology & visual science.
[4] G. Holder,et al. The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients. , 2016, Investigative ophthalmology & visual science.
[5] J. Sahel,et al. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). , 2016, Ophthalmology.
[6] M. Michaelides,et al. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. , 2016, Investigative ophthalmology & visual science.
[7] Michel Michaelides,et al. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options , 2016, British Journal of Ophthalmology.
[8] A. Cideciyan,et al. Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy , 2016, American journal of ophthalmology.
[9] S. Sadda,et al. COMPARISON OF MANUAL AND SEMIAUTOMATED FUNDUS AUTOFLUORESCENCE ANALYSIS OF MACULAR ATROPHY IN STARGARDT DISEASE PHENOTYPE , 2016, Retina.
[10] J. Sahel,et al. The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. , 2016, Ophthalmology.
[11] Hendrik P N Scholl,et al. Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography , 2015, British Journal of Ophthalmology.
[12] T. de Ravel,et al. An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients , 2015, Human mutation.
[13] K. Tsubota,et al. Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease , 2014, Ophthalmology.
[14] J. Lupski,et al. Analysis of the ABCA4 genomic locus in Stargardt disease. , 2014, Human molecular genetics.
[15] M. Michaelides,et al. Fine central macular dots associated with childhood‐onset Stargardt Disease , 2014, Acta ophthalmologica.
[16] K. Tsubota,et al. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. , 2013, Investigative ophthalmology & visual science.
[17] K. Tsubota,et al. ABCA4 gene screening by next-generation sequencing in a British cohort. , 2013, Investigative ophthalmology & visual science.
[18] K. Tsubota,et al. Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. , 2013, American journal of ophthalmology.
[19] Adam P. DeLuca,et al. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease , 2013, Human molecular genetics.
[20] K. Tsubota,et al. A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. , 2013, American journal of ophthalmology.
[21] K. Tsubota,et al. The clinical effect of homozygous ABCA4 alleles in 18 patients. , 2013, Ophthalmology.
[22] C. Keilhauer,et al. A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. , 2012, Investigative ophthalmology & visual science.
[23] S. Tsang,et al. Allelic and phenotypic heterogeneity in ABCA4 mutations , 2011, Ophthalmic genetics.
[24] D. Besch,et al. Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1. , 2002, Investigative ophthalmology & visual science.
[25] B. Lorenz,et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. , 2000, American journal of human genetics.
[26] J. Lupski,et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy , 1997, Nature Genetics.