Works matching Choroideremia
Results: 249
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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- 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
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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- 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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- 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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- 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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- 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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- 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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- 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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- 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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- 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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- Article
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
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- BMC Ophthalmology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12886-015-0081-4
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- Article
Recent advances and future prospects in choroideremia.
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- Clinical Ophthalmology, 2015, v. 9, p. 2195, doi. 10.2147/OPTH.S65732
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- Publication type:
- Article
Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab.
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- Clinical Ophthalmology, 2014, v. 8, p. 1675, doi. 10.2147/OPTH.S68243
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- Publication type:
- Article
Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow.
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- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 8, p. 809, doi. 10.1111/aos.13394
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- Publication type:
- Article
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
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- 2017
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- Case Study
A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
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- Molecular Medicine Reports, 2018, v. 17, n. 6, p. 7918, doi. 10.3892/mmr.2018.8851
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- Article
Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT).
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- Molecular Medicine Reports, 2017, v. 15, n. 3, p. 1157, doi. 10.3892/mmr.2017.6119
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- Article
Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.
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- 2018
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- Publication type:
- journal article
Choroideremia: Findings in the Carrier State.
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- 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
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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- 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
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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- 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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- 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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- 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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- 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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- Article
Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
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- 2016
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- Publication type:
- journal 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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- 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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- 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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- 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
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
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- 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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- Article
Multimodal Imaging of Photoreceptor Structure in Choroideremia.
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167526
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- Article
Outcomes following cataract surgery in choroideremia.
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- Eye, 2015, v. 29, n. 4, p. 460, doi. 10.1038/eye.2014.326
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- Article
Eight years follow‐up of two choroideremia patients with a new mutation of the choroideremia gene.
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- 2022
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- Abstract
Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.
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- 2022
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- Publication type:
- journal 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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- 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".
- Published in:
- 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.
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- Genes, 2023, v. 14, n. 12, p. 2160, doi. 10.3390/genes14122160
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- Publication type:
- Article
Different patterns of autofluorescence within the same family in carriers of a novel choroideremia mutation.
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- 2022
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- Publication type:
- Case Study
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72623-1
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- Publication type:
- Article
Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129982
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- Publication type:
- Article
How to make a differential diagnosis between choroideremia and retinitis pigmentosa.
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- Pan-American Journal of Ophthalmology, 2022, p. 1, doi. 10.4103/pajo.pajo_120_21
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- Article
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
Coroideremia familiar: reporte de caso con énfasis en la evolución clínica y adquisición de discapacidad visual.
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- Médicas UIS, 2020, v. 33, n. 2, p. 109, doi. 10.18273/revmed.v33n2-2020013
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- Article
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 12, p. 2655, doi. 10.1007/s00417-019-04508-7
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- Publication type:
- Article