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Journal Abstract Search


319 related items for PubMed ID: 21273940

  • 1. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
    Kinnick TR, Mullins RF, Dev S, Leys M, Mackey DA, Kay CN, Lam BL, Fishman GA, Traboulsi E, Iezzi R, Stone EM.
    Retina; 2011 Mar; 31(3):581-95. PubMed ID: 21273940
    [Abstract] [Full Text] [Related]

  • 2. 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; 129(2):211-7. PubMed ID: 21320969
    [Abstract] [Full Text] [Related]

  • 3. 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 Feb; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 4. 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; 36(9):1733-40. PubMed ID: 26807628
    [Abstract] [Full Text] [Related]

  • 5. 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; 121(12):2406-14. PubMed ID: 25085631
    [Abstract] [Full Text] [Related]

  • 6. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
    Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, Lee C, Hughes G, Lee J, Quach J, Zhu J, Shaw PX, Kozak I, Zhang K.
    Eye (Lond); 2012 Jun; 26(6):866-71. PubMed ID: 22422030
    [Abstract] [Full Text] [Related]

  • 7. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb; 45(1):38-43. PubMed ID: 36908234
    [Abstract] [Full Text] [Related]

  • 8. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W.
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2095. PubMed ID: 36378562
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
    Tian L, Sun T, Xu K, Zhang X, Peng X, Li Y.
    Invest Ophthalmol Vis Sci; 2017 Jul 01; 58(9):3366-3375. PubMed ID: 28687848
    [Abstract] [Full Text] [Related]

  • 11. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
    Parodi MB, Iacono P, Del Turco C, Bandello F.
    Am J Ophthalmol; 2014 Dec 01; 158(6):1247-1252.e2. PubMed ID: 25174897
    [Abstract] [Full Text] [Related]

  • 12. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
    Meunier I, Sénéchal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, Manes G, Chazalette D, Mazoir E, Bocquet B, Hamel CP.
    Ophthalmology; 2011 Jun 01; 118(6):1130-6. PubMed ID: 21269699
    [Abstract] [Full Text] [Related]

  • 13. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
    Sodi A, Menchini F, Manitto MP, Passerini I, Murro V, Torricelli F, Menchini U.
    Mol Vis; 2011 Jun 01; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 14. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Jun 01; 20():1594-604. PubMed ID: 25489231
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 28; 154(2):403-412.e4. PubMed ID: 22633354
    [Abstract] [Full Text] [Related]

  • 17. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
    Lacassagne E, Dhuez A, Rigaudière F, Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes S, Abitbol M.
    Mol Vis; 2011 Jan 29; 17():309-22. PubMed ID: 21293734
    [Abstract] [Full Text] [Related]

  • 18. Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
    Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M.
    Br J Ophthalmol; 2012 May 29; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 19. The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.
    Xuan Y, Zhang Y, Zong Y, Wang M, Li L, Ye X, Liu W, Chen J, Sun X, Zhang Y, Chen Y.
    Am J Ophthalmol; 2020 Aug 29; 216():69-79. PubMed ID: 32278767
    [Abstract] [Full Text] [Related]

  • 20. Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
    Cohn AC, Turnbull C, Ruddle JB, Guymer RH, Kearns LS, Staffieri S, Daggett HT, Hewitt AW, Mackey DA.
    Eye (Lond); 2011 Feb 29; 25(2):208-17. PubMed ID: 21109774
    [Abstract] [Full Text] [Related]


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