430 related articles for article (PubMed ID: 26720466)
21. Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
Johnson AA; Lee YS; Chadburn AJ; Tammaro P; Manson FD; Marmorstein LY; Marmorstein AD
Exp Eye Res; 2014 Apr; 121():74-85. PubMed ID: 24560797
[TBL] [Abstract][Full Text] [Related]
22. Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
Chen CJ; Kaufman S; Packo K; Stöhr H; Weber BH; Goldberg MF
Ophthalmic Genet; 2016; 37(1):102-8. PubMed ID: 26849243
[TBL] [Abstract][Full Text] [Related]
23. Novel Missense Mutations in
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; 10(2):. PubMed ID: 30781664
[TBL] [Abstract][Full Text] [Related]
24. 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; 58(9):3366-3375. PubMed ID: 28687848
[TBL] [Abstract][Full Text] [Related]
25. 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; 62(6):22. PubMed ID: 34015078
[TBL] [Abstract][Full Text] [Related]
26. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
Nakanishi A; Ueno S; Hayashi T; Katagiri S; Kominami T; Ito Y; Gekka T; Masuda Y; Tsuneoka H; Shinoda K; Hirakata A; Inoue M; Fujinami K; Tsunoda K; Iwata T; Terasaki H
Am J Ophthalmol; 2016 Aug; 168():86-94. PubMed ID: 27163236
[TBL] [Abstract][Full Text] [Related]
27. Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.
Hussain RN; Shahid FL; Empeslidis T; Ch'ng SW
Ophthalmic Genet; 2015; 36(3):265-9. PubMed ID: 25265375
[TBL] [Abstract][Full Text] [Related]
28. A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.
Hardin JS; Schaefer GB; Sallam AB; Williams MK; Uwaydat S
Ophthalmic Genet; 2017 Dec; 38(6):570-574. PubMed ID: 28481155
[TBL] [Abstract][Full Text] [Related]
29. Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
Cascavilla ML; Querques G; Stenirri S; Battaglia Parodi M; Querques L; Bandello F
Ophthalmic Res; 2012; 48(3):146-50. PubMed ID: 22584882
[TBL] [Abstract][Full Text] [Related]
30. 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; 47(8):1063-1073. PubMed ID: 31254423
[TBL] [Abstract][Full Text] [Related]
31. 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; 138(5):544-551. PubMed ID: 32239196
[TBL] [Abstract][Full Text] [Related]
32. Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.
Bianco L; Arrigo A; Antropoli A; Saladino A; Aragona E; Bandello F; Parodi MB
Ophthalmic Genet; 2024 Feb; 45(1):44-50. PubMed ID: 37041716
[TBL] [Abstract][Full Text] [Related]
33. Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.
Ye P; Xu J; Luo Y; Su Z; Yao K
BMC Med Genet; 2020 Jan; 21(1):16. PubMed ID: 31969119
[TBL] [Abstract][Full Text] [Related]
34. 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
[TBL] [Abstract][Full Text] [Related]
35. 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; 36(9):1733-40. PubMed ID: 26807628
[TBL] [Abstract][Full Text] [Related]
36. Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ; Qi YH; Hu FY; Wang DD; Xu P; Guo JL; Li JK; Zhang YJ; Li W; Chen F; Xu GZ; Liu W; Chang Q; Wu JH
Br J Ophthalmol; 2020 Jun; 104(6):846-851. PubMed ID: 31519547
[TBL] [Abstract][Full Text] [Related]
37. Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.
Marmorstein AD; Johnson AA; Bachman LA; Andrews-Pfannkoch C; Knudsen T; Gilles BJ; Hill M; Gandhi JK; Marmorstein LY; Pulido JS
Sci Rep; 2018 Mar; 8(1):4487. PubMed ID: 29540715
[TBL] [Abstract][Full Text] [Related]
38. 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; 52(8):5332-8. PubMed ID: 21467170
[TBL] [Abstract][Full Text] [Related]
39. Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.
Guerriero S; Preising MN; Ciccolella N; Causio F; Lorenz B; Fischetto R
Ophthalmologica; 2011; 225(4):228-35. PubMed ID: 21412020
[TBL] [Abstract][Full Text] [Related]
40. Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the
Hufendiek K; Hufendiek K; Jägle H; Stöhr H; Book M; Spital G; Rustambayova G; Framme C; Weber BHF; Renner AB; Kellner U
Int J Mol Sci; 2020 Dec; 21(24):. PubMed ID: 33302512
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]