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170 related items for PubMed ID: 11449320

  • 41. 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]

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

  • 43. 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]

  • 44. Best's multiple vitelliform degeneration.
    Pece A, Gaspari G, Avanza P, Magni R, Brancato R.
    Int Ophthalmol; 1992 Nov 18; 16(6):459-64. PubMed ID: 1490837
    [Abstract] [Full Text] [Related]

  • 45. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
    Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R.
    Genomics; 1999 May 15; 58(1):98-101. PubMed ID: 10331951
    [Abstract] [Full Text] [Related]

  • 46. The gene causing the Best's macular dystrophy (BMD) encodes a putative ion exchanger.
    Gómez A, Cedano J, Oliva B, Piñol J, Querol E.
    DNA Seq; 2001 Dec 15; 12(5-6):431-5. PubMed ID: 11913792
    [Abstract] [Full Text] [Related]

  • 47. 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 15; 51(9):4754-65. PubMed ID: 20375334
    [Abstract] [Full Text] [Related]

  • 48. Variable phenotypic expressivity of Best's vitelliform dystrophy.
    Loewenstein A, Godel V, Godel L, Lazar M.
    Ophthalmic Paediatr Genet; 1993 Sep 15; 14(3):131-6. PubMed ID: 8115120
    [Abstract] [Full Text] [Related]

  • 49. 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 15; 25(2):208-17. PubMed ID: 21109774
    [Abstract] [Full Text] [Related]

  • 50. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
    Toto L, Boon CJ, Di Antonio L, Battaglia Parodi M, Mastropasqua R, Antonucci I, Stuppia L, Mastropasqua L.
    Retina; 2016 Aug 15; 36(8):1586-95. PubMed ID: 26716959
    [Abstract] [Full Text] [Related]

  • 51. A reappraisal of the clinical spectrum of North Carolina macular dystrophy.
    Khurana RN, Sun X, Pearson E, Yang Z, Harmon J, Goldberg MF, Zhang K.
    Ophthalmology; 2009 Oct 15; 116(10):1976-83. PubMed ID: 19616854
    [Abstract] [Full Text] [Related]

  • 52. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
    Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC.
    Nat Genet; 1992 Jul 15; 1(4):246-50. PubMed ID: 1302019
    [Abstract] [Full Text] [Related]

  • 53. "Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".
    Garza-Garza LA, León-Cachón RBR, Aguirre-Garza M, Garza-Leon M.
    Ophthalmic Genet; 2020 Apr 15; 41(2):183-188. PubMed ID: 32207364
    [Abstract] [Full Text] [Related]

  • 54. [Vitelline macular degeneration and Best's macular degeneration are the same disease (author's transl)].
    Jaeger W, Bischoff E.
    Klin Monbl Augenheilkd; 1977 Jun 15; 170(6):890-9. PubMed ID: 894995
    [Abstract] [Full Text] [Related]

  • 55. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
    Krämer F, Mohr N, Kellner U, Rudolph G, Weber BH.
    Hum Mutat; 2003 Nov 15; 22(5):418. PubMed ID: 14517959
    [Abstract] [Full Text] [Related]

  • 56. Atypical presentations of Best's vitelliform macular degeneration: clinical findings in seven cases.
    Walter P, Brunner R, Heimann K.
    Ger J Ophthalmol; 1994 Nov 15; 3(6):440-4. PubMed ID: 7866266
    [Abstract] [Full Text] [Related]

  • 57. Vitelliform lesions developing in normal fundi.
    Barricks ME.
    Am J Ophthalmol; 1977 Mar 15; 83(3):324-7. PubMed ID: 848535
    [Abstract] [Full Text] [Related]

  • 58. Fundus autofluorescence imaging in Best's vitelliform dystrophy.
    Jarc-Vidmar M, Kraut A, Hawlina M.
    Klin Monbl Augenheilkd; 2003 Dec 15; 220(12):861-7. PubMed ID: 14704944
    [Abstract] [Full Text] [Related]

  • 59. Vitelliform macular degeneration.
    Kingham JD, Lochen GP.
    Am J Ophthalmol; 1977 Oct 15; 84(4):526-31. PubMed ID: 910857
    [Abstract] [Full Text] [Related]

  • 60. [Choroidal neovascularization complicating Best's vitelliform macular dystrophy in a child].
    Elkhoyaali A, Chatoui S, Bercheq N, Elouatassi N, Zerrouk R, Elasri F, Reda K, Oubaaz A.
    J Fr Ophtalmol; 2016 Jan 15; 39(1):69-73. PubMed ID: 26707756
    [Abstract] [Full Text] [Related]

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