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Journal Abstract Search

195 related items for PubMed ID: 22422030

  • 1. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
    Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, Lee C, Hughes G, Lee J, Quach J, Zhu J, Shaw PX, Kozak I, Zhang K.
    Eye (Lond); 2012 Jun; 26(6):866-71. PubMed ID: 22422030
    [Abstract] [Full Text] [Related]

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

  • 3. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
    Kinnick TR, Mullins RF, Dev S, Leys M, Mackey DA, Kay CN, Lam BL, Fishman GA, Traboulsi E, Iezzi R, Stone EM.
    Retina; 2011 Mar; 31(3):581-95. PubMed ID: 21273940
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 6. Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
    Tian L, Sun T, Xu K, Zhang X, Peng X, Li Y.
    Invest Ophthalmol Vis Sci; 2017 Jul 01; 58(9):3366-3375. PubMed ID: 28687848
    [Abstract] [Full Text] [Related]

  • 7. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 01; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 10. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb 01; 45(1):38-43. PubMed ID: 36908234
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 118(6):1130-6. PubMed ID: 21269699
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 12(2):2584-8. PubMed ID: 25936525
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
    Tian R, Yang G, Wang J, Chen Y.
    Mol Vis; 2014 Sep 01; 20():1594-604. PubMed ID: 25489231
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 31(3):NP93-NP95. PubMed ID: 32321300
    [Abstract] [Full Text] [Related]

  • 16. Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
    Cohn AC, Turnbull C, Ruddle JB, Guymer RH, Kearns LS, Staffieri S, Daggett HT, Hewitt AW, Mackey DA.
    Eye (Lond); 2011 Feb 01; 25(2):208-17. PubMed ID: 21109774
    [Abstract] [Full Text] [Related]

  • 17. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
    Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E.
    Invest Ophthalmol Vis Sci; 2011 Jul 18; 52(8):5332-8. PubMed ID: 21467170
    [Abstract] [Full Text] [Related]

  • 18. The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.
    Xuan Y, Zhang Y, Zong Y, Wang M, Li L, Ye X, Liu W, Chen J, Sun X, Zhang Y, Chen Y.
    Am J Ophthalmol; 2020 Aug 18; 216():69-79. PubMed ID: 32278767
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 33(3):123-9. PubMed ID: 21809908
    [Abstract] [Full Text] [Related]

  • 20. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
    Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W.
    Mol Genet Genomic Med; 2023 Jan 18; 11(1):e2095. PubMed ID: 36378562
    [Abstract] [Full Text] [Related]

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