103 related articles for article (PubMed ID: 24337562)
21. 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]
22. Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Davidson AE; Millar ID; Burgess-Mullan R; Maher GJ; Urquhart JE; Brown PD; Black GC; Manson FD
Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3730-6. PubMed ID: 21330666
[TBL] [Abstract][Full Text] [Related]
23. Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
Lin Y; Gao H; Liu Y; Liang X; Liu X; Wang Z; Zhang W; Chen J; Lin Z; Huang X; Liu Y
Mol Med Rep; 2015 Aug; 12(2):2584-8. PubMed ID: 25936525
[TBL] [Abstract][Full Text] [Related]
24. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
Parodi MB; Iacono P; Del Turco C; Bandello F
Am J Ophthalmol; 2014 Dec; 158(6):1247-1252.e2. PubMed ID: 25174897
[TBL] [Abstract][Full Text] [Related]
25. New best1 mutations in autosomal recessive bestrophinopathy.
Fung AT; Yzer S; Goldberg N; Wang H; Nissen M; Giovannini A; Merriam JE; Bukanova EN; Cai C; Yannuzzi LA; Tsang SH; Allikmets R
Retina; 2015 Apr; 35(4):773-82. PubMed ID: 25545482
[TBL] [Abstract][Full Text] [Related]
26. 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; 38(1):79-82. PubMed ID: 27031371
[TBL] [Abstract][Full Text] [Related]
27. A potential cytosolic function of bestrophin-1.
Strauss O; Neussert R; Müller C; Milenkovic VM
Adv Exp Med Biol; 2012; 723():603-10. PubMed ID: 22183384
[No Abstract] [Full Text] [Related]
28. OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
Chacon-Camacho OF; Camarillo-Blancarte L; Zenteno JC
Ophthalmic Genet; 2011 Mar; 32(1):24-30. PubMed ID: 21077756
[TBL] [Abstract][Full Text] [Related]
29. Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization.
Frennesson CI; Wadelius C; Nilsson SE
Acta Ophthalmol; 2014 May; 92(3):238-42. PubMed ID: 23617333
[TBL] [Abstract][Full Text] [Related]
30. Dome-shaped macula associated with Best vitelliform macular dystrophy.
Battaglia Parodi M; Zucchiatti I; Fasce F; Cascavilla ML; Cicinelli MV; Bandello F
Eur J Ophthalmol; 2015; 25(2):180-1. PubMed ID: 25384969
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].
Preising MN; Pasquay C; Friedburg C; Bowl W; Jäger M; Andrassi-Darida M; Lorenz B
Klin Monbl Augenheilkd; 2012 Oct; 229(10):1009-17. PubMed ID: 23096145
[TBL] [Abstract][Full Text] [Related]
33. Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
Meunier I; Manes G; Bocquet B; Marquette V; Baudoin C; Puech B; Defoort-Dhellemmes S; Audo I; Verdet R; Arndt C; Zanlonghi X; Le Meur G; Dhaenens CM; Hamel CP
Ophthalmology; 2014 Dec; 121(12):2406-14. PubMed ID: 25085631
[TBL] [Abstract][Full Text] [Related]
34. Preferential hyperacuity perimeter in best vitelliform macular dystrophy.
Querques G; Atmani K; Bouzitou-Mfoumou R; Leveziel N; Massamba N; Souied EH
Retina; 2011 May; 31(5):959-66. PubMed ID: 21242858
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ; Klevering BJ; Leroy BP; Hoyng CB; Keunen JE; den Hollander AI
Prog Retin Eye Res; 2009 May; 28(3):187-205. PubMed ID: 19375515
[TBL] [Abstract][Full Text] [Related]
37. Bilateral choroidal excavation in best vitelliform macular dystrophy.
Parodi MB; Zucchiatti I; Fasce F; Bandello F
Ophthalmic Surg Lasers Imaging Retina; 2014 Feb; 45 Online():e8-e10. PubMed ID: 24512759
[TBL] [Abstract][Full Text] [Related]
38. BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
Moshfegh Y; Velez G; Li Y; Bassuk AG; Mahajan VB; Tsang SH
Hum Mol Genet; 2016 Jul; 25(13):2672-2680. PubMed ID: 27193166
[TBL] [Abstract][Full Text] [Related]
39. Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
Wivestad Jansson R; Berland S; Bredrup C; Austeng D; Andréasson S; Wittström E
Ophthalmic Genet; 2016 Jun; 37(2):183-93. PubMed ID: 26333019
[TBL] [Abstract][Full Text] [Related]
40. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R; Trujillo-Tiebas MJ; Gimenez A; Garcia-Hoyos M; Cantalapiedra D; Vallespin E; Queipo A; Ramos C; Ayuso C
Hum Genet; 2005 Dec; 118(3-4):536. PubMed ID: 16521246
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
