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274 related items for PubMed ID: 21269699

  • 1. 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; 118(6):1130-6. PubMed ID: 21269699
    [Abstract] [Full Text] [Related]

  • 2. 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; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 3. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
    Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Aug; 125(8):1100-6. PubMed ID: 17698758
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.
    Zhuk SA, Edwards AO.
    Mol Vis; 2006 Jul 24; 12():811-5. PubMed ID: 16885924
    [Abstract] [Full Text] [Related]

  • 6. Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
    Çavdarli C, Çavdarlı B, Alp MN.
    Ophthalmic Genet; 2020 Dec 24; 41(6):585-590. PubMed ID: 32942919
    [Abstract] [Full Text] [Related]

  • 7. 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 24; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 8. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 24; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 9. [Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients].
    Xue Y, Zhang Y, Wang M, Liu W, Xu G.
    Zhonghua Yan Ke Za Zhi; 2014 Jul 24; 50(7):523-8. PubMed ID: 25312462
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
    Low S, Davidson AE, Holder GE, Hogg CR, Bhattacharya SS, Black GC, Foster PJ, Webster AR.
    Mol Vis; 2011 Jul 24; 17():2272-82. PubMed ID: 21921978
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 29; 117(7):1415-22. PubMed ID: 20381869
    [Abstract] [Full Text] [Related]

  • 13. 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 29; 129(2):211-7. PubMed ID: 21320969
    [Abstract] [Full Text] [Related]

  • 14. 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 29; 36(9):1733-40. PubMed ID: 26807628
    [Abstract] [Full Text] [Related]

  • 15. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
    Kubota D, Gocho K, Akeo K, Kikuchi S, Sugahara M, Matsumoto CS, Shinoda K, Mizota A, Yamaki K, Takahashi H, Kameya S.
    Doc Ophthalmol; 2016 Jun 29; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 16. Morphology and functional characteristics in adult vitelliform macular dystrophy.
    Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH.
    Retina; 2004 Dec 29; 24(6):929-39. PubMed ID: 15579992
    [Abstract] [Full Text] [Related]

  • 17. PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
    Coco RM, Tellería JJ, Sanabria MR, Rodríguez-Rúa E, García MT.
    Eur J Ophthalmol; 2010 Dec 29; 20(4):724-32. PubMed ID: 20213611
    [Abstract] [Full Text] [Related]

  • 18. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.
    Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S.
    Ophthalmic Genet; 2001 Jun 29; 22(2):107-15. PubMed ID: 11449320
    [Abstract] [Full Text] [Related]

  • 19. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
    Parodi MB, Iacono P, Del Turco C, Bandello F.
    Am J Ophthalmol; 2014 Dec 29; 158(6):1247-1252.e2. PubMed ID: 25174897
    [Abstract] [Full Text] [Related]

  • 20. Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism.
    Jaouni T, Averbukh E, Burstyn-Cohen T, Grunin M, Banin E, Sharon D, Chowers I.
    Arch Ophthalmol; 2012 Aug 29; 130(8):987-91. PubMed ID: 22893068
    [Abstract] [Full Text] [Related]

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