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146 related items for PubMed ID: 33827363

  • 1. Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations.
    Coussa RG, Sohn EH, Han IC, Parikh S, Traboulsi EI.
    Ophthalmic Genet; 2021 Aug; 42(4):420-430. PubMed ID: 33827363
    [Abstract] [Full Text] [Related]

  • 2. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
    de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF.
    Ophthalmology; 2013 Dec; 120(12):2684-2696. PubMed ID: 23806424
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  • 3. Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications.
    Coussa RG, Parikh S, Traboulsi EI.
    Surv Ophthalmol; 2021 Dec; 66(5):838-855. PubMed ID: 33610586
    [Abstract] [Full Text] [Related]

  • 4. Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members.
    Michaelides M, Jenkins SA, Bamiou DE, Sweeney MG, Davis MB, Luxon L, Bird AC, Rath PP.
    Arch Ophthalmol; 2008 Mar; 126(3):320-8. PubMed ID: 18332310
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  • 5. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.
    Ophthalmology; 1999 Jun; 106(6):1101-8. PubMed ID: 10366077
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  • 6. Mitochondrial Retinopathy.
    Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P.
    Ophthalmol Retina; 2022 Jan; 6(1):65-79. PubMed ID: 34257060
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  • 7. Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA.
    Xia CY, Liu Y, Liu H, Zhang YC, Ma YN, Qi Y.
    Chin Med J (Engl); 2016 Aug 20; 129(16):1945-9. PubMed ID: 27503020
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  • 8. Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier.
    Finsterer J.
    Am J Case Rep; 2021 Apr 19; 22():e930175. PubMed ID: 33867519
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  • 11. Choroideremia: effect of age on visual acuity in patients and female carriers.
    Coussa RG, Kim J, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun 19; 33(2):66-73. PubMed ID: 22060191
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  • 12. Mitochondrial A3243G mutation results in corneal endothelial polymegathism.
    Bakhoum MF, Wu WP, White EC, Sengillo JD, Sanfilippo C, Morcos MM, Freund KB, Perry HD, Sarraf D, Tsang SH.
    Graefes Arch Clin Exp Ophthalmol; 2018 Mar 19; 256(3):583-588. PubMed ID: 29376197
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  • 14. Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
    Saeed OB, Traboulsi EI, Coussa RG.
    Eye (Lond); 2023 Feb 19; 37(2):350-355. PubMed ID: 35094030
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  • 15. Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
    Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR.
    Ophthalmology; 2014 Feb 19; 121(2):580-7. PubMed ID: 24199935
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  • 16. Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
    Rho EH, Baek SI, Lee H, Seong MW, Chae JH, Park KS, Kwak SH.
    Diabetes Metab J; 2024 May 19; 48(3):482-486. PubMed ID: 38311059
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  • 18. Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.
    Haast RAM, Ivanov D, IJsselstein RJT, Sallevelt SCEH, Jansen JFA, Smeets HJM, de Coo IFM, Formisano E, Uludağ K.
    Neuroimage Clin; 2018 May 19; 18():231-244. PubMed ID: 29868447
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  • 19. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.
    Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ.
    Genet Med; 2006 Oct 19; 8(10):641-52. PubMed ID: 17079881
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