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Journal Abstract Search

174 related items for PubMed ID: 10617923

  • 1. Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.
    Ponjavic V, Eksandh L, Andréasson S, Sjöström K, Bakall B, Ingvast S, Wadelius C, Ehinger B.
    Ophthalmic Genet; 1999 Dec; 20(4):251-7. PubMed ID: 10617923
    [Abstract] [Full Text] [Related]

  • 2. 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; 22(2):107-15. PubMed ID: 11449320
    [Abstract] [Full Text] [Related]

  • 3. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
    Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet JM, Kaplan J, Martinelli D, Delle Noci N, Soubrane G, Souied EH.
    Mol Vis; 2009 Dec 31; 15():2960-72. PubMed ID: 20057903
    [Abstract] [Full Text] [Related]

  • 4. 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 31; 127(7):913-20. PubMed ID: 19597114
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Identification of a novel VMD2 mutation in Japanese patients with Best disease.
    Yanagi Y, Sekine H, Mori M.
    Ophthalmic Genet; 2002 Jun 29; 23(2):129-33. PubMed ID: 12187431
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 244(11):1453-66. PubMed ID: 16612637
    [Abstract] [Full Text] [Related]

  • 8. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy.
    Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R.
    Ophthalmology; 2001 Nov 29; 108(11):2060-7. PubMed ID: 11713080
    [Abstract] [Full Text] [Related]

  • 9. The mutation spectrum of the bestrophin protein--functional implications.
    Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C.
    Hum Genet; 1999 May 29; 104(5):383-9. PubMed ID: 10394929
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy.
    Shibuya Y, Hayasaka S.
    Jpn J Ophthalmol; 1993 Jul 29; 37(4):478-84. PubMed ID: 8145393
    [Abstract] [Full Text] [Related]

  • 12. 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 29; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 13. Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy.
    Abdalla YF, De Salvo G, Elsahn A, Self JE.
    Ophthalmic Surg Lasers Imaging Retina; 2017 Jul 01; 48(7):580-585. PubMed ID: 28728185
    [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 01; 36(9):1733-40. PubMed ID: 26807628
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 12(5-6):431-5. PubMed ID: 11913792
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
    Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.
    Ophthalmic Genet; 2008 Sep 15; 29(3):139-44. PubMed ID: 18766995
    [Abstract] [Full Text] [Related]

  • 18. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
    Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M.
    Ophthalmic Genet; 2002 Sep 15; 23(3):167-74. PubMed ID: 12324875
    [Abstract] [Full Text] [Related]

  • 19. Phenotype and genotype correlations in two best families.
    Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA.
    Ophthalmology; 2003 Sep 15; 110(9):1724-31. PubMed ID: 13129869
    [Abstract] [Full Text] [Related]

  • 20. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 15; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

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