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212 related items for PubMed ID: 21809908

  • 1. 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; 33(3):123-9. PubMed ID: 21809908
    [Abstract] [Full Text] [Related]

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

  • 3. 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 Sep; 17():1607-17. PubMed ID: 21738390
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 6. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
    Sodi A, Menchini F, Manitto MP, Passerini I, Murro V, Torricelli F, Menchini U.
    Mol Vis; 2011 Jun; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
    Dhoble P, Robson AG, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Feb 18; 45(1):38-43. PubMed ID: 36908234
    [Abstract] [Full Text] [Related]

  • 9. Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
    Chibani Z, Abid IZ, Molbaek A, Söderkvist P, Feki J, Hmani-Aifa M.
    Clin Exp Ophthalmol; 2019 Nov 18; 47(8):1063-1073. PubMed ID: 31254423
    [Abstract] [Full Text] [Related]

  • 10. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
    Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP, Ahmad T.
    BMC Ophthalmol; 2022 Dec 16; 22(1):493. PubMed ID: 36527004
    [Abstract] [Full Text] [Related]

  • 11. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
    Wittström E, Ekvall S, Schatz P, Bondeson ML, Ponjavic V, Andréasson S.
    Ophthalmic Genet; 2011 Jun 16; 32(2):83-96. PubMed ID: 21192766
    [Abstract] [Full Text] [Related]

  • 12. 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 16; 35(4):773-82. PubMed ID: 25545482
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 29; 37(2):183-93. PubMed ID: 26333019
    [Abstract] [Full Text] [Related]

  • 15. 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 29; 129(2):211-7. PubMed ID: 21320969
    [Abstract] [Full Text] [Related]

  • 16. 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 29; 56(13):8141-50. PubMed ID: 26720466
    [Abstract] [Full Text] [Related]

  • 17. 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 29; 96(5):719-22. PubMed ID: 22174098
    [Abstract] [Full Text] [Related]

  • 18. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
    Matson ME, Ly SV, Monarrez JL.
    Optom Vis Sci; 2015 Aug 29; 92(8):e180-9. PubMed ID: 26099059
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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 18; 157(3):697-709.e1-2. PubMed ID: 24345323
    [Abstract] [Full Text] [Related]

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