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Journal Abstract Search

195 related items for PubMed ID: 22422030

  • 21. 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; 17():1607-17. PubMed ID: 21738390
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  • 23. 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]

  • 24. 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]

  • 25. "Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".
    Garza-Garza LA, León-Cachón RBR, Aguirre-Garza M, Garza-Leon M.
    Ophthalmic Genet; 2020 Apr 31; 41(2):183-188. PubMed ID: 32207364
    [Abstract] [Full Text] [Related]

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  • 27. 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 Apr 31; 17():3078-87. PubMed ID: 22162627
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. 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]

  • 30. BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
    Sodi A, Passerini I, Murro V, Caputo R, Bacci GM, Bodoj M, Torricelli F, Menchini U.
    Mol Vis; 2012 Dec 31; 18():2736-48. PubMed ID: 23213274
    [Abstract] [Full Text] [Related]

  • 31. Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.
    Qian CX, Charran D, Strong CR, Steffens TJ, Jayasundera T, Heckenlively JR.
    Ophthalmology; 2017 Apr 31; 124(4):456-463. PubMed ID: 28187978
    [Abstract] [Full Text] [Related]

  • 32. 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]

  • 33. Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.
    Jun I, Lee JS, Lee JH, Lee CS, Choi SI, Gee HY, Lee MG, Kim EK.
    Sci Rep; 2017 Aug 22; 7(1):9146. PubMed ID: 28831140
    [Abstract] [Full Text] [Related]

  • 34. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
    Parodi MB, Iacono P, Del Turco C, Bandello F.
    Am J Ophthalmol; 2014 Dec 22; 158(6):1247-1252.e2. PubMed ID: 25174897
    [Abstract] [Full Text] [Related]

  • 35. 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 22; 39(8):1613-1622. PubMed ID: 29781975
    [Abstract] [Full Text] [Related]

  • 36. Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
    Frecer V, Iarossi G, Salvetti AP, Maltese PE, Delledonne G, Oldani M, Staurenghi G, Falsini B, Minnella AM, Ziccardi L, Magli A, Colombo L, D'Esposito F, Miertus J, Viola F, Attanasio M, Maggio E, Bertelli M.
    J Transl Med; 2019 Oct 01; 17(1):330. PubMed ID: 31570112
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. 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 03; 47(8):1063-1073. PubMed ID: 31254423
    [Abstract] [Full Text] [Related]

  • 39. Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
    Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T.
    Am J Ophthalmol; 2012 Aug 03; 154(2):403-412.e4. PubMed ID: 22633354
    [Abstract] [Full Text] [Related]

  • 40. Bilateral macular holes and a new onset vitelliform lesion in Best disease.
    Liu J, Xuan Y, Zhang Y, Liu W, Xu G.
    Ophthalmic Genet; 2017 Aug 03; 38(1):79-82. PubMed ID: 27031371
    [Abstract] [Full Text] [Related]

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