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Journal Abstract Search

170 related items for PubMed ID: 11449320

  • 21. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
    Schatz P, Klar J, Andréasson S, Ponjavic V, Dahl N.
    Ophthalmic Genet; 2006 Jun; 27(2):51-6. PubMed ID: 16754206
    [Abstract] [Full Text] [Related]

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

  • 23. 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; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 24. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
    Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH.
    Hum Mol Genet; 1998 Sep; 7(9):1517-25. PubMed ID: 9700209
    [Abstract] [Full Text] [Related]

  • 25. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
    Sohn EH, Francis PJ, Duncan JL, Weleber RG, Saperstein DA, Farrell DF, Stone EM.
    Arch Ophthalmol; 2009 Jul; 127(7):913-20. PubMed ID: 19597114
    [Abstract] [Full Text] [Related]

  • 26. [Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].
    Ouyang YL, Zhang YJ, Xu GZ, Jiang R, Chen Q, Wang L.
    Zhonghua Yan Ke Za Zhi; 2008 Apr; 44(4):321-6. PubMed ID: 18844018
    [Abstract] [Full Text] [Related]

  • 27. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
    Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M.
    Am J Ophthalmol; 2000 Feb; 129(2):260-2. PubMed ID: 10682987
    [Abstract] [Full Text] [Related]

  • 28. Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy.
    Shibuya Y, Hayasaka S.
    Jpn J Ophthalmol; 1993 Feb; 37(4):478-84. PubMed ID: 8145393
    [Abstract] [Full Text] [Related]

  • 29. Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
    Katagiri S, Hayashi T, Ohkuma Y, Sekiryu T, Takeuchi T, Gekka T, Kondo M, Iwata T, Tsuneoka H.
    Br J Ophthalmol; 2015 Nov; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 30. 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; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 31. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
    Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B.
    Graefes Arch Clin Exp Ophthalmol; 2006 Nov; 244(11):1453-66. PubMed ID: 16612637
    [Abstract] [Full Text] [Related]

  • 32. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
    Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH.
    Eur J Hum Genet; 2000 Apr; 8(4):286-92. PubMed ID: 10854112
    [Abstract] [Full Text] [Related]

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

  • 34. 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]

  • 35. [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]

  • 36. 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 24; 24(6):929-39. PubMed ID: 15579992
    [Abstract] [Full Text] [Related]

  • 37. Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.
    Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T.
    Invest Ophthalmol Vis Sci; 2005 Feb 24; 46(2):683-91. PubMed ID: 15671300
    [Abstract] [Full Text] [Related]

  • 38. 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 24; 29(6):835-47. PubMed ID: 19357557
    [Abstract] [Full Text] [Related]

  • 39. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.
    Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F.
    J Fr Ophtalmol; 2007 Jun 24; 30(6):616-20. PubMed ID: 17646752
    [Abstract] [Full Text] [Related]

  • 40. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
    Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.
    J Med Genet; 2007 Mar 24; 44(3):e70. PubMed ID: 17287362
    [Abstract] [Full Text] [Related]

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