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166 related items for PubMed ID: 18332310

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
    Michaelides M, Jenkins SA, Brantley MA, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.
    Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3085-97. PubMed ID: 16799055
    [Abstract] [Full Text] [Related]

  • 4. Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.
    Rath PP, Jenkins S, Michaelides M, Smith A, Sweeney MG, Davis MB, Fitzke FW, Bird AC.
    Br J Ophthalmol; 2008 May; 92(5):623-9. PubMed ID: 18441172
    [Abstract] [Full Text] [Related]

  • 5. MELAS A3243G mitochondrial DNA mutation and age related maculopathy.
    Jones M, Mitchell P, Wang JJ, Sue C.
    Am J Ophthalmol; 2004 Dec; 138(6):1051-3. PubMed ID: 15629304
    [Abstract] [Full Text] [Related]

  • 6. Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.
    Daruich A, Matet A, Borruat FX.
    BMC Ophthalmol; 2014 Jun 06; 14():77. PubMed ID: 24906873
    [Abstract] [Full Text] [Related]

  • 7. Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
    Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.
    Ophthalmic Genet; 2008 Sep 06; 29(3):139-44. PubMed ID: 18766995
    [Abstract] [Full Text] [Related]

  • 8. Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report.
    Hoptasz M, Szczuciński A, Losy J.
    Neurol Neurochir Pol; 2014 Sep 06; 48(2):150-3. PubMed ID: 24821643
    [Abstract] [Full Text] [Related]

  • 9. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.
    Ophthalmology; 2005 Aug 06; 112(8):1442-7. PubMed ID: 15953638
    [Abstract] [Full Text] [Related]

  • 10. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
    de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF.
    Ophthalmology; 2013 Dec 06; 120(12):2684-2696. PubMed ID: 23806424
    [Abstract] [Full Text] [Related]

  • 11. [Audiological findings and mitochondrial DNA mutation in a large family with matrilineal sensorineural hearing loss].
    Xing G, Bu X, Yan M, Lu L, Yang S.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 2000 Apr 06; 35(2):98-101. PubMed ID: 12768662
    [Abstract] [Full Text] [Related]

  • 12. [Audiologic features of mitochondrial DNA A3243G mutation and its correlation with mutation rate].
    Xue JF, Chen L, Ma YN, Zhao DH, Duan JB, Wang ZX, Qi Y, Liu YH.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2830-4. PubMed ID: 23290211
    [Abstract] [Full Text] [Related]

  • 13. Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.
    Deschauer M, Müller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S.
    Arch Neurol; 2001 Nov 30; 58(11):1885-8. PubMed ID: 11708999
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
    Vialettes BH, Paquis-Flucklinger V, Pelissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C.
    Diabetes Care; 1997 Nov 30; 20(11):1731-7. PubMed ID: 9353617
    [Abstract] [Full Text] [Related]

  • 15. Clinical features of A3243G mitochondrial tRNA mutation.
    Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ.
    Brain Dev; 2004 Oct 30; 26(7):459-62. PubMed ID: 15351082
    [Abstract] [Full Text] [Related]

  • 16. Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.
    Oishi N, Kubota D, Nakamoto K, Takeda Y, Hayashi M, Gocho K, Yamaki K, Igarashi T, Takahashi H, Kameya S.
    Ophthalmic Genet; 2021 Jun 30; 42(3):304-311. PubMed ID: 33541179
    [Abstract] [Full Text] [Related]

  • 17. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy.
    Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong LJ.
    Am J Ophthalmol; 1997 Aug 30; 124(2):217-21. PubMed ID: 9262546
    [Abstract] [Full Text] [Related]

  • 18. Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.
    Olsson C, Zethelius B, Lagerström-Fermér M, Asplund J, Berne C, Landegren U.
    Hum Mutat; 1998 Aug 30; 12(1):52-8. PubMed ID: 9633820
    [Abstract] [Full Text] [Related]

  • 19. Fundus changes in patients with the mitochondrial DNA point mutation at position 3243.
    Bonte C, Leys A, Matthijs G, Missotten L.
    Bull Soc Belge Ophtalmol; 1996 Aug 30; 261():9-12. PubMed ID: 9009357
    [Abstract] [Full Text] [Related]

  • 20. [Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees].
    Wang CL, Li F, Hou QZ, Li HZ, Zhang Y, Ning G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb 30; 26(1):74-7. PubMed ID: 19199257
    [Abstract] [Full Text] [Related]

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