These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
277 related articles for article (PubMed ID: 28831140)
1. 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; 7(1):9146. PubMed ID: 28831140 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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; 216():69-79. PubMed ID: 32278767 [TBL] [Abstract][Full Text] [Related]
4. Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy. Lin Y; Li T; Ma C; Gao H; Chen C; Zhu Y; Liu B; Lian Y; Huang Y; Li H; Wu Q; Liang X; Jin C; Huang X; Ye J; Lu L Mol Med Rep; 2018 Jan; 17(1):225-233. PubMed ID: 29115605 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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; 118(6):1130-6. PubMed ID: 21269699 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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; 56(13):8141-50. PubMed ID: 26720466 [TBL] [Abstract][Full Text] [Related]
13. 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; 17(1):330. PubMed ID: 31570112 [TBL] [Abstract][Full Text] [Related]
14. 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; 2018():4582816. PubMed ID: 30498755 [TBL] [Abstract][Full Text] [Related]
15. 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; 39(8):1613-1622. PubMed ID: 29781975 [TBL] [Abstract][Full Text] [Related]
16. Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Çavdarli C; Çavdarlı B; Alp MN Ophthalmic Genet; 2020 Dec; 41(6):585-590. PubMed ID: 32942919 [No Abstract] [Full Text] [Related]
17. 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]
18. 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; 56(4):178-185. PubMed ID: 27078032 [TBL] [Abstract][Full Text] [Related]
19. 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 [TBL] [Abstract][Full Text] [Related]