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182 related items for PubMed ID: 16612637

  • 1. 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]

  • 2. 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]

  • 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. 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 31; 20(4):251-7. PubMed ID: 10617923
    [Abstract] [Full Text] [Related]

  • 5. 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 31; 51(9):4754-65. PubMed ID: 20375334
    [Abstract] [Full Text] [Related]

  • 6. 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 Sep 31; 17():2272-82. PubMed ID: 21921978
    [Abstract] [Full Text] [Related]

  • 7. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
    Wivestad Jansson R, Berland S, Bredrup C, Austeng D, Andréasson S, Wittström E.
    Ophthalmic Genet; 2016 Jun 31; 37(2):183-93. PubMed ID: 26333019
    [Abstract] [Full Text] [Related]

  • 8. 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 31; 117(7):1415-22. PubMed ID: 20381869
    [Abstract] [Full Text] [Related]

  • 9. 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 31; 29(6):835-47. PubMed ID: 19357557
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. 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]

  • 13. 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]

  • 14. 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 Jun 29; 56(4):178-185. PubMed ID: 27078032
    [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. Phenotype and genotype correlations in two best families.
    Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA.
    Ophthalmology; 2003 Sep 28; 110(9):1724-31. PubMed ID: 13129869
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 18. Clinical and genetic heterogeneity in Slovenian patients with BEST disease.
    Glavač D, Jarc-Vidmar M, Vrabec K, Ravnik-Glavač M, Fakin A, Hawlina M.
    Acta Ophthalmol; 2016 Dec 28; 94(8):e786-e794. PubMed ID: 27775230
    [Abstract] [Full Text] [Related]

  • 19. 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 28; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 20. Phenotype and genotype of patients with autosomal recessive bestrophinopathy.
    MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, Ayyagari R.
    Ophthalmic Genet; 2012 Sep 28; 33(3):123-9. PubMed ID: 21809908
    [Abstract] [Full Text] [Related]

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