Works matching DE "STARGARDT disease"
Results: 247
Clinical classification of Stargardt disease.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 5, p. 1377, doi. 10.1007/s00417-023-06292-x
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- Article
Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 7, p. 2003, doi. 10.1007/s00417-022-05955-5
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- Article
Choroidal vascularity index in eyes with central macular atrophy secondary to age-related macular degeneration and Stargardt disease.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 5, p. 1525, doi. 10.1007/s00417-021-05337-3
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- Article
Reply on comment on "Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography".
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- 2021
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- Publication type:
- Letter to the Editor
Comment on "Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography".
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 11, p. 3515, doi. 10.1007/s00417-021-05300-2
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- Article
Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 6, p. 1521, doi. 10.1007/s00417-020-04992-2
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- Article
The absence of fundus abnormalities in Stargardt disease.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 6, p. 1147, doi. 10.1007/s00417-019-04280-8
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- Article
Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 3, p. 549, doi. 10.1007/s00417-018-04229-3
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- Article
Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.
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- Ophthalmologica, 2024, v. 247, n. 4, p. 231, doi. 10.1159/000540361
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- Article
Properties of Patient-Reported Outcome Measures in Recessive Stargardt Disease.
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- Ophthalmologica, 2022, v. 245, n. 6, p. 546, doi. 10.1159/000527093
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- Article
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00773
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- Article
Effectiveness of Low Vision Rehabilitation Using Microperimetric Acoustic Biofeedback Training in Patients with Central Scotoma.
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- Current Eye Research, 2021, v. 46, n. 5, p. 731, doi. 10.1080/02713683.2020.1833348
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- Article
Reading Performance Improvements in Patients with Central Vision Loss without Age-Related Macular Degeneration after Undergoing Personalized Rehabilitation Training.
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- Current Eye Research, 2017, v. 42, n. 9, p. 1260, doi. 10.1080/02713683.2017.1315140
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- Article
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele.
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- Genes, 2024, v. 15, n. 12, p. 1503, doi. 10.3390/genes15121503
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- Article
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
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- Genes, 2024, v. 15, n. 6, p. 766, doi. 10.3390/genes15060766
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- Article
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
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- Genes, 2023, v. 14, n. 8, p. 1659, doi. 10.3390/genes14081659
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- Article
Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.
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- Genes, 2023, v. 14, n. 7, p. 1394, doi. 10.3390/genes14071394
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- Article
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.
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- Genes, 2023, v. 14, n. 2, p. 291, doi. 10.3390/genes14020291
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- Article
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
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- Genes, 2023, v. 14, n. 1, p. 191, doi. 10.3390/genes14010191
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- Article
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
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- Genes, 2022, v. 13, n. 8, p. 1490, doi. 10.3390/genes13081490
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- Article
High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
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- Genes, 2021, v. 12, n. 8, p. 1269, doi. 10.3390/genes12081269
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- Article
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
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- Genes, 2021, v. 12, n. 8, p. 1241, doi. 10.3390/genes12081241
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- Article
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
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- Genes, 2021, v. 13, n. 6, p. 812, doi. 10.3390/genes12060812
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- Article
Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4 -Associated Retinal Dystrophies.
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- Genes, 2020, v. 11, n. 12, p. 1421, doi. 10.3390/genes11121421
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- Article
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.
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- Genes, 2020, v. 11, n. 7, p. 773, doi. 10.3390/genes11070773
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- Article
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.
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- Genes, 2019, v. 10, n. 6, p. 452, doi. 10.3390/genes10060452
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- Article
Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease.
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- Acta Medica Iranica, 2023, v. 61, n. 6, p. 329
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- Article
Quercetin Alleviates All- Trans -Retinal-Induced Photoreceptor Apoptosis and Retinal Degeneration by Inhibiting the ER Stress-Related PERK Signaling.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13624, doi. 10.3390/ijms252413624
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- Article
Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8859, doi. 10.3390/ijms25168859
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- Article
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4 -Related Retinal Dystrophy in an Eastern European Population.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16231, doi. 10.3390/ijms242216231
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Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations—An In-Silico Study.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7280, doi. 10.3390/ijms24087280
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- Article
Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 16161, doi. 10.3390/ijms232416161
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- Article
Where Are We with RPE Replacement Therapy? A Translational Review from the Ophthalmologist Perspective.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 682, doi. 10.3390/ijms23020682
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- Article
Scaffold-Free Retinal Pigment Epithelium Microtissues Exhibit Increased Release of PEDF.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11317, doi. 10.3390/ijms222111317
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- Article
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4621, doi. 10.3390/ijms22094621
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- Article
Nanocarriers, Progenitor Cells, Combinational Approaches, and New Insights on the Retinal Therapy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1776, doi. 10.3390/ijms22041776
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- Article
Development of 3D Printed Bruch's Membrane-Mimetic Substance for the Maturation of Retinal Pigment Epithelial Cells.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1095, doi. 10.3390/ijms22031095
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- Article
Cell-Type-Specific Complement Profiling in the ABCA4 −/− Mouse Model of Stargardt Disease.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8468, doi. 10.3390/ijms21228468
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- Article
Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3430, doi. 10.3390/ijms21103430
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- Article
Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5053, doi. 10.3390/ijms20205053
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- Article
Scavenging of Retinoid Cation Radicals by Urate, Trolox, and α-, β-, γ-, and δ-Tocopherols.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 11, p. 2799, doi. 10.3390/ijms20112799
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- Article
The Controversial Role of TGF-β in Neovascular Age-Related Macular Degeneration Pathogenesis.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3363, doi. 10.3390/ijms19113363
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- Article
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2196, doi. 10.3390/ijms19082196
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- Article
UNILATERAL MACULAR OEDEMA IN STARGARDT MACULAR DYSTROPHY - A RARE CASE REPORT.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 297
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- Article
Genotypic Analysis of ABCA4 Coding Sequence in Thai Patients with Stargardt Disease.
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- Siriraj Medical Journal, 2024, v. 76, n. 10, p. 705, doi. 10.33192/smj.v76i10.268909
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- Article
Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
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- Journal of Clinical Medicine, 2025, v. 14, n. 2, p. 614, doi. 10.3390/jcm14020614
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- Article
Novel Therapies for Inherited Retinal Dystrophies.
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- Journal of Clinical Medicine, 2024, v. 13, n. 23, p. 7358, doi. 10.3390/jcm13237358
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- Article
Updates on Emerging Interventions for Autosomal Recessive ABCA4 -Associated Stargardt Disease.
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- Journal of Clinical Medicine, 2023, v. 12, n. 19, p. 6229, doi. 10.3390/jcm12196229
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- Article
Evaluation of photoreceptor function in inherited retinal diseases using rod‐ and cone‐enhanced flicker stimuli.
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- Ophthalmic & Physiological Optics, 2021, v. 41, n. 4, p. 874, doi. 10.1111/opo.12799
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- Article
Low Vision Rehabilitation of a Stargardt-Like Macular Dystrophy Linked to a Novel ELOVL4 Heterozygous Mutation in a Hispanic Family.
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- Optometry & Visual Performance, 2022, v. 10, n. 2, p. 109
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- Article