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Journal Abstract Search

405 related items for PubMed ID: 27071392

  • 1. 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]

  • 2. 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]

  • 3. 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; 36(8):1586-95. PubMed ID: 26716959
    [Abstract] [Full Text] [Related]

  • 4. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
    Lee CS, Jun I, Choi SI, Lee JH, Lee MG, Lee SC, Kim EK.
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8141-50. PubMed ID: 26720466
    [Abstract] [Full Text] [Related]

  • 5. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Dec; 20():1594-604. PubMed ID: 25489231
    [Abstract] [Full Text] [Related]

  • 6. New best1 mutations in autosomal recessive bestrophinopathy.
    Fung AT, Yzer S, Goldberg N, Wang H, Nissen M, Giovannini A, Merriam JE, Bukanova EN, Cai C, Yannuzzi LA, Tsang SH, Allikmets R.
    Retina; 2015 Apr; 35(4):773-82. PubMed ID: 25545482
    [Abstract] [Full Text] [Related]

  • 7. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
    Sharon D, Al-Hamdani S, Engelsberg K, Mizrahi-Meissonnier L, Obolensky A, Banin E, Sander B, Jensen H, Larsen M, Schatz P.
    Am J Ophthalmol; 2014 Mar; 157(3):697-709.e1-2. PubMed ID: 24345323
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  • 9. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
    Crowley C, Paterson R, Lamey T, McLaren T, De Roach J, Chelva E, Khan J.
    Doc Ophthalmol; 2014 Aug; 129(1):57-63. PubMed ID: 24859690
    [Abstract] [Full Text] [Related]

  • 10. Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
    Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH.
    Ophthalmic Genet; 2016 Jun; 37(2):201-8. PubMed ID: 26771239
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  • 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
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  • 16. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
    Parodi MB, Iacono P, Del Turco C, Bandello F.
    Am J Ophthalmol; 2014 Dec 28; 158(6):1247-1252.e2. PubMed ID: 25174897
    [Abstract] [Full Text] [Related]

  • 17. [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].
    Preising MN, Pasquay C, Friedburg C, Bowl W, Jäger M, Andrassi-Darida M, Lorenz B.
    Klin Monbl Augenheilkd; 2012 Oct 28; 229(10):1009-17. PubMed ID: 23096145
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  • 18. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
    Luo J, Lin M, Guo X, Xiao X, Li J, Hu H, Xiao H, Xu X, Zhong Y, Long S, Luo G, Mi L, Chen X, Fang L, Wei W, Zhang Q, Liu X.
    Acta Ophthalmol; 2019 May 28; 97(3):247-259. PubMed ID: 30593719
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  • 19. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb 28; 45(1):38-43. PubMed ID: 36908234
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  • 20. Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
    Jaffal L, Joumaa WH, Assi A, Helou C, Condroyer C, El Dor M, Cherfan G, Zeitz C, Audo I, Zibara K, El Shamieh S.
    Genes (Basel); 2019 Feb 18; 10(2):. PubMed ID: 30781664
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