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Journal Abstract Search

198 related items for PubMed ID: 28791410

  • 21. Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.
    Shi J, Sun T, Xu K, Zhang X, Li Y.
    BMC Ophthalmol; 2023 Apr 19; 23(1):165. PubMed ID: 37076855
    [Abstract] [Full Text] [Related]

  • 22. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.
    Wittström E, Ponjavic V, Bondeson ML, Andréasson S.
    Ophthalmic Genet; 2011 Nov 19; 32(4):217-27. PubMed ID: 21473666
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  • 23. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
    Gao T, Tian C, Hu Q, Liu Z, Zou J, Huang L, Zhao M.
    Biomed Res Int; 2018 Nov 19; 2018():4582816. PubMed ID: 30498755
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  • 26. 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 19; 100(3):e847-e858. PubMed ID: 34327816
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  • 28. 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 19; 8(3):288-297. PubMed ID: 37717827
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  • 29. 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
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  • 30. Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
    Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB.
    Retina; 2009 Jun 01; 29(6):835-47. PubMed ID: 19357557
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  • 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 01; 124(4):456-463. PubMed ID: 28187978
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  • 32. 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 Apr 01; 38(1):79-82. PubMed ID: 27031371
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  • 34. 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 01; 11(1):e2095. PubMed ID: 36378562
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  • 35. 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
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  • 36. Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.
    Li T, Lin Y, Gao H, Chen C, Zhu Y, Liu B, Lian Y, Li Y, Zhou W, Jiang H, Li H, Wu Q, Liang X, Jin C, Huang X, Lu L.
    Mol Med Rep; 2017 Sep 01; 16(3):2505-2510. PubMed ID: 28677725
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  • 38. 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 01; 96(5):719-22. PubMed ID: 22174098
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  • 39. 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 May 01; 17():2272-82. PubMed ID: 21921978
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  • 40. 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 May 01; 17():3078-87. PubMed ID: 22162627
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