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Journal Abstract Search


287 related items for PubMed ID: 22633354

  • 1. Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
    Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T.
    Am J Ophthalmol; 2012 Aug; 154(2):403-412.e4. PubMed ID: 22633354
    [Abstract] [Full Text] [Related]

  • 2. The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
    Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Querques L, Rozet JM, Kaplan J, Souied EH.
    Invest Ophthalmol Vis Sci; 2011 Jun 28; 52(7):4678-84. PubMed ID: 21436265
    [Abstract] [Full Text] [Related]

  • 3. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
    Schatz P, Bitner H, Sander B, Holfort S, Andreasson S, Larsen M, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep 28; 51(9):4754-65. PubMed ID: 20375334
    [Abstract] [Full Text] [Related]

  • 4. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
    Parodi MB, Iacono P, Del Turco C, Bandello F.
    Am J Ophthalmol; 2014 Dec 28; 158(6):1247-1252.e2. PubMed ID: 25174897
    [Abstract] [Full Text] [Related]

  • 5. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
    Sharon D, Al-Hamdani S, Engelsberg K, Mizrahi-Meissonnier L, Obolensky A, Banin E, Sander B, Jensen H, Larsen M, Schatz P.
    Am J Ophthalmol; 2014 Mar 28; 157(3):697-709.e1-2. PubMed ID: 24345323
    [Abstract] [Full Text] [Related]

  • 6. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr 28; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 7. Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
    Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB.
    Retina; 2009 Jun 28; 29(6):835-47. PubMed ID: 19357557
    [Abstract] [Full Text] [Related]

  • 8. Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
    Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP.
    Ophthalmology; 2014 Dec 28; 121(12):2406-14. PubMed ID: 25085631
    [Abstract] [Full Text] [Related]

  • 9. Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.
    Iannaccone A, Kerr NC, Kinnick TR, Calzada JI, Stone EM.
    Arch Ophthalmol; 2011 Feb 28; 129(2):211-7. PubMed ID: 21320969
    [Abstract] [Full Text] [Related]

  • 10. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
    Wittström E, Ekvall S, Schatz P, Bondeson ML, Ponjavic V, Andréasson S.
    Ophthalmic Genet; 2011 Jun 28; 32(2):83-96. PubMed ID: 21192766
    [Abstract] [Full Text] [Related]

  • 11. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
    Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E.
    Invest Ophthalmol Vis Sci; 2011 Jul 18; 52(8):5332-8. PubMed ID: 21467170
    [Abstract] [Full Text] [Related]

  • 12. OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
    Chacon-Camacho OF, Camarillo-Blancarte L, Zenteno JC.
    Ophthalmic Genet; 2011 Mar 18; 32(1):24-30. PubMed ID: 21077756
    [Abstract] [Full Text] [Related]

  • 13. A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.
    Peiretti E, Caminiti G, Forma G, Carboni G, Dhaenens CM, Querques L, Souied E, Querques G.
    Retina; 2016 Sep 18; 36(9):1733-40. PubMed ID: 26807628
    [Abstract] [Full Text] [Related]

  • 14. Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
    Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, Hoyng CB, Bergen AA, Klaver CC.
    Ophthalmology; 2010 Jul 18; 117(7):1415-22. PubMed ID: 20381869
    [Abstract] [Full Text] [Related]

  • 15. Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
    Glavač D, Jarc-Vidmar M, Vrabec K, Ravnik-Glavač M, Fakin A, Hawlina M.
    Acta Ophthalmol; 2016 Dec 18; 94(8):e786-e794. PubMed ID: 27775230
    [Abstract] [Full Text] [Related]

  • 16. Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
    Liu J, Zhang Y, Xuan Y, Liu W, Wang M.
    Ophthalmic Res; 2016 Dec 18; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 17. Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
    Cascavilla ML, Querques G, Stenirri S, Battaglia Parodi M, Querques L, Bandello F.
    Ophthalmic Res; 2012 Dec 18; 48(3):146-50. PubMed ID: 22584882
    [Abstract] [Full Text] [Related]

  • 18. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 18; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 19. Preferential hyperacuity perimeter in best vitelliform macular dystrophy.
    Querques G, Atmani K, Bouzitou-Mfoumou R, Leveziel N, Massamba N, Souied EH.
    Retina; 2011 May 18; 31(5):959-66. PubMed ID: 21242858
    [Abstract] [Full Text] [Related]

  • 20. Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization.
    Frennesson CI, Wadelius C, Nilsson SE.
    Acta Ophthalmol; 2014 May 18; 92(3):238-42. PubMed ID: 23617333
    [Abstract] [Full Text] [Related]


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