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Journal Abstract Search

156 related items for PubMed ID: 36908234

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

  • 2. 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; 99(11):1577-82. PubMed ID: 26201355
    [Abstract] [Full Text] [Related]

  • 3. 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; 11(1):e2095. PubMed ID: 36378562
    [Abstract] [Full Text] [Related]

  • 4. 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 Jan; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 5. Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
    Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q.
    Exp Eye Res; 2022 Oct; 223():109217. PubMed ID: 35973442
    [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. The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
    Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Mauro L, Pina A, Bandello F, Battaglia Parodi M.
    Ophthalmol Retina; 2024 Mar 01; 8(3):288-297. PubMed ID: 37717827
    [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 Mar 01; 17():2272-82. PubMed ID: 21921978
    [Abstract] [Full Text] [Related]

  • 9. 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]

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

  • 11. 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]

  • 12. Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
    Shah M, Broadgate S, Shanks M, Clouston P, Yu J, MacLaren RE, Németh AH, Halford S, Downes SM.
    JAMA Ophthalmol; 2020 May 01; 138(5):544-551. PubMed ID: 32239196
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 216():69-79. PubMed ID: 32278767
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, MacDonald IM, Lee T, Lawrence J.
    ; 1993 Feb 18. PubMed ID: 20301346
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
    Pfister TA, Zein WM, Cukras CA, Sen HN, Maldonado RS, Huryn LA, Hufnagel RB.
    Invest Ophthalmol Vis Sci; 2021 May 03; 62(6):22. PubMed ID: 34015078
    [Abstract] [Full Text] [Related]

  • 17. Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
    Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E.
    Acta Ophthalmol; 2022 May 03; 100(3):e847-e858. PubMed ID: 34327816
    [Abstract] [Full Text] [Related]

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  • 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 May 03; 17():1607-17. PubMed ID: 21738390
    [Abstract] [Full Text] [Related]

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