Works matching DE "CHOROIDEREMIA"
Results: 66
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2025, v. 263, n. 2, p. 379, doi. 10.1007/s00417-024-06659-8
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- Publication type:
- Article
Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report.
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- International Journal of Retina & Vitreous, 2021, v. 7, n. 1, p. 1, doi. 10.1186/s40942-021-00333-5
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- Publication type:
- Article
Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58059-x
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- Publication type:
- Article
The English National Screening Programme for diabetic retinopathy 2003-2016.
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- Acta Diabetologica, 2017, v. 54, n. 6, p. 515, doi. 10.1007/s00592-017-0974-1
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- Publication type:
- Article
Choroideremia: Findings in the Carrier State.
- Published in:
- 2017
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- Publication type:
- Case Study
Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.
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- Ophthalmologica, 2019, v. 242, n. 4, p. 195, doi. 10.1159/000501282
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- Publication type:
- Article
High-resolution adaptive optics imaging complements standard spectral domain optical coherent tomography in retinal diseases with micro-structural details.
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- Vision Pan-America, 2015, v. 14, n. 4, p. 108, doi. 10.15234/vpa.v14i4.261
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- Publication type:
- Article
Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole.
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- Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 4, p. 9, doi. 10.3928/23258160-20231108-01
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- Publication type:
- Article
Colour discrimination ellipses in choroideremia.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2018, v. 256, n. 4, p. 665, doi. 10.1007/s00417-018-3921-0
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- Publication type:
- Article
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2017, v. 255, n. 11, p. 2099, doi. 10.1007/s00417-017-3751-5
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- Publication type:
- Article
Multimodal assessment of choroideremia patients defines pre-treatment characteristics.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2015, v. 253, n. 12, p. 2143, doi. 10.1007/s00417-015-2976-4
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- Publication type:
- Article
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
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- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03842-7
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- Publication type:
- Article
Discovery of Māori and Polynesian phototransduction pathway founder mutation: what is the gene and what does it mean?
- Published in:
- 2017
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- Publication type:
- Editorial
Effects of pupil dilation on MAIA microperimetry.
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- Clinical & Experimental Ophthalmology, 2017, v. 45, n. 5, p. 489, doi. 10.1111/ceo.12907
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- Publication type:
- Article
Genetic analysis of choroideremia families in the Australian population.
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- Clinical & Experimental Ophthalmology, 2015, v. 43, n. 8, p. 727, doi. 10.1111/ceo.12542
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- Publication type:
- Article
Daily Light Onset and Plasma Membrane Tethers Regulate Mitochondria Redistribution within the Retinal Pigment Epithelium.
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- Cells (2073-4409), 2024, v. 13, n. 13, p. 1100, doi. 10.3390/cells13131100
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- Publication type:
- Article
Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
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- Cells (2073-4409), 2024, v. 13, n. 12, p. 1068, doi. 10.3390/cells13121068
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- Publication type:
- Article
Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates.
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- Gene Therapy, 2015, v. 22, n. 2, p. 116, doi. 10.1038/gt.2014.115
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- Publication type:
- Article
Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia.
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- Case Reports in Ophthalmology, 2015, v. 6, n. 2, p. 246, doi. 10.1159/000437348
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- Publication type:
- Article
Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.
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- Genes, 2025, v. 16, n. 1, p. 25, doi. 10.3390/genes16010025
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- Publication type:
- Article
Retinal Patterns and the Role of Autofluorescence in Choroideremia.
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- Genes, 2024, v. 15, n. 11, p. 1471, doi. 10.3390/genes15111471
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- Publication type:
- Article
Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13 , 1268".
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- Genes, 2023, v. 14, n. 12, p. 2161, doi. 10.3390/genes14122161
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- Publication type:
- Article
Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13 , 1268.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2160, doi. 10.3390/genes14122160
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- Publication type:
- Article
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
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- Genes, 2022, v. 13, n. 7, p. 1268, doi. 10.3390/genes13071268
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- Publication type:
- Article
Outcome of Full-Thickness Macular Hole Surgery in Choroideremia.
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- Genes, 2017, v. 8, n. 7, p. 187, doi. 10.3390/genes8070187
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- Publication type:
- Article
Choroideremia - A clinical insight and differential diagnosis.
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- Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2022, n. 3, p. 50, doi. 10.31288/oftalmolzh202235053
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- Publication type:
- Article
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0324-6
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- Publication type:
- Article
Visual‐related quality of life in patients with inherited retinal dystrophies ‐ a baseline for assessing clinical trial efficacy.
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- Acta Ophthalmologica (1755375X), 2010, v. 88, p. 0, doi. 10.1111/j.1755-3768.2010.2443.x
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- Publication type:
- Article
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
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- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0151943
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- Publication type:
- Article
Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129982
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- Publication type:
- Article
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review.
- Published in:
- Eye, 2015, v. 29, n. 9, p. 1131, doi. 10.1038/eye.2015.115
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- Publication type:
- Article
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.
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- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00122-w
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- Publication type:
- Article
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 344, doi. 10.1002/mgg3.208
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- Publication type:
- Article
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95258-2
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- Publication type:
- Article
Novel non-contiguous exon duplication in choroideremia.
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- Clinical Genetics, 2018, v. 93, n. 1, p. 144, doi. 10.1111/cge.13021
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- Publication type:
- Article
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03842-7
- By:
- Publication type:
- Article
Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading in choroideremia.
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- Ophthalmic & Physiological Optics, 2024, v. 44, n. 6, p. 1188, doi. 10.1111/opo.13356
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- Publication type:
- Article
Large drusen in long-standing retinal detachment.
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- Oman Journal of Ophthalmology, 2018, v. 11, n. 3, p. 272, doi. 10.4103/0974-620X.244306
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- Publication type:
- Article
A case of choroidal osteoma in a 17-year-old female.
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- Oman Journal of Ophthalmology, 2018, v. 11, n. 3, p. 267, doi. 10.4103/ojo.OJO_249_2017
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- Publication type:
- Article
Multimodal Imaging of Photoreceptor Structure in Choroideremia.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167526
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- Publication type:
- Article
Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15225, doi. 10.3390/ijms242015225
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- Publication type:
- Article
Choroideremia: The Endpoint Endgame.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14354, doi. 10.3390/ijms241814354
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- Publication type:
- Article
Gene therapies for retinal dystrophies: potential in the Chinese population.
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- Hong Kong Journal of Ophthalmology, 2022, v. 26, n. 1, p. 10, doi. 10.12809/hkjo-v26n1-324
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- Publication type:
- Article
Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.
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- Antioxidants, 2024, v. 13, n. 12, p. 1587, doi. 10.3390/antiox13121587
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- Publication type:
- Article
Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.
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- Antioxidants, 2023, v. 12, n. 9, p. 1694, doi. 10.3390/antiox12091694
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- Publication type:
- Article
Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.
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- Pharmaceuticals (14248247), 2025, v. 18, n. 1, p. 87, doi. 10.3390/ph18010087
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- Publication type:
- Article
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
- Published in:
- BMC Ophthalmology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12886-015-0081-4
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- Publication type:
- Article
Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
- Published in:
- 2016
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- Publication type:
- journal article
How to make a differential diagnosis between choroideremia and retinitis pigmentosa.
- Published in:
- Pan-American Journal of Ophthalmology, 2022, p. 1, doi. 10.4103/pajo.pajo_120_21
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- Publication type:
- Article
Outcomes following cataract surgery in choroideremia.
- Published in:
- Eye, 2015, v. 29, n. 4, p. 460, doi. 10.1038/eye.2014.326
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- Publication type:
- Article