253 related articles for article (PubMed ID: 19597114)
1. 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; 127(7):913-20. PubMed ID: 19597114
[TBL] [Abstract][Full Text] [Related]
2. 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; 17():309-22. PubMed ID: 21293734
[TBL] [Abstract][Full Text] [Related]
3. 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; 15():2960-72. PubMed ID: 20057903
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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; 17():2272-82. PubMed ID: 21921978
[TBL] [Abstract][Full Text] [Related]
6. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
Schatz P; Bitner H; Sander B; Holfort S; Andreasson S; Larsen M; Sharon D
Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4754-65. PubMed ID: 20375334
[TBL] [Abstract][Full Text] [Related]
7. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Toto L; Boon CJ; Di Antonio L; Battaglia Parodi M; Mastropasqua R; Antonucci I; Stuppia L; Mastropasqua L
Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
[TBL] [Abstract][Full Text] [Related]
8. Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy.
Wong RL; Hou P; Choy KW; Chiang SW; Tam PO; Li H; Chan WM; Lam DS; Pang CP; Lai TY
Retina; 2010 May; 30(5):820-7. PubMed ID: 20057343
[TBL] [Abstract][Full Text] [Related]
9. Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
Matson ME; Ly SV; Monarrez JL
Optom Vis Sci; 2015 Aug; 92(8):e180-9. PubMed ID: 26099059
[TBL] [Abstract][Full Text] [Related]
10. 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; 29(6):835-47. PubMed ID: 19357557
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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; 17():3078-87. PubMed ID: 22162627
[TBL] [Abstract][Full Text] [Related]
13. 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; 94(8):e786-e794. PubMed ID: 27775230
[TBL] [Abstract][Full Text] [Related]
14. Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
Tian R; Yang G; Wang J; Chen Y
Mol Vis; 2014; 20():1594-604. PubMed ID: 25489231
[TBL] [Abstract][Full Text] [Related]
15. The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
Querques G; Zerbib J; Santacroce R; Margaglione M; Delphin N; Querques L; Rozet JM; Kaplan J; Souied EH
Invest Ophthalmol Vis Sci; 2011 Jun; 52(7):4678-84. PubMed ID: 21436265
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
[TBL] [Abstract][Full Text] [Related]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. 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; 96(5):719-22. PubMed ID: 22174098
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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; 124(4):456-463. PubMed ID: 28187978
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
