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175 related items for PubMed ID: 25312462

  • 1. [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; 50(7):523-8. PubMed ID: 25312462
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 24; 36(9):1733-40. PubMed ID: 26807628
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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 Dec 29; 17():2272-82. PubMed ID: 21921978
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 31; 56(4):178-185. PubMed ID: 27078032
    [Abstract] [Full Text] [Related]

  • 11. 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 31; 129(2):211-7. PubMed ID: 21320969
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. A novel mutation of BEST1 gene in Best disease.
    Campa C, Parmeggiani F, Spena R, Ognibene D, Passerini I, Gualandi F.
    Eur J Ophthalmol; 2021 May 31; 31(3):NP93-NP95. PubMed ID: 32321300
    [Abstract] [Full Text] [Related]

  • 14. 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 31; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 15. Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
    Lin Y, Gao H, Liu Y, Liang X, Liu X, Wang Z, Zhang W, Chen J, Lin Z, Huang X, Liu Y.
    Mol Med Rep; 2015 Aug 31; 12(2):2584-8. PubMed ID: 25936525
    [Abstract] [Full Text] [Related]

  • 16. 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 31; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 17. 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 31; 125(8):1100-6. PubMed ID: 17698758
    [Abstract] [Full Text] [Related]

  • 18. NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
    Guo J, Gao F, Tang W, Qi Y, Xuan Y, Liu W, Li L, Ye X, Xu G, Wu J, Zhang Y.
    Retina; 2019 Aug 31; 39(8):1613-1622. PubMed ID: 29781975
    [Abstract] [Full Text] [Related]

  • 19. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
    Piñeiro-Gallego T, Álvarez M, Pereiro I, Campos S, Sharon D, Schatz P, Valverde D.
    Mol Vis; 2011 Aug 31; 17():1607-17. PubMed ID: 21738390
    [Abstract] [Full Text] [Related]

  • 20. 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 31; 94(8):e786-e794. PubMed ID: 27775230
    [Abstract] [Full Text] [Related]

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