223 related articles for article (PubMed ID: 30593719)
1. Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
Luo J; Lin M; Guo X; Xiao X; Li J; Hu H; Xiao H; Xu X; Zhong Y; Long S; Luo G; Mi L; Chen X; Fang L; Wei W; Zhang Q; Liu X
Acta Ophthalmol; 2019 May; 97(3):247-259. PubMed ID: 30593719
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D; Gocho K; Akeo K; Kikuchi S; Sugahara M; Matsumoto CS; Shinoda K; Mizota A; Yamaki K; Takahashi H; Kameya S
Doc Ophthalmol; 2016 Jun; 132(3):233-43. PubMed ID: 27071392
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
Crowley C; Paterson R; Lamey T; McLaren T; De Roach J; Chelva E; Khan J
Doc Ophthalmol; 2014 Aug; 129(1):57-63. PubMed ID: 24859690
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.
Tekin K; Dulger SC; Horozoglu Ceran T; Inanc M; Ozdal PC; Teke MY
J Fr Ophtalmol; 2024 Jun; 47(6):104097. PubMed ID: 38518704
[TBL] [Abstract][Full Text] [Related]
14. Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.
Zhong Y; Guo X; Xiao H; Luo J; Zuo C; Huang X; Huang J; Mi L; Zhang Q; Liu X
PLoS One; 2017; 12(1):e0169395. PubMed ID: 28056057
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
Haque OI; Chandrasekaran A; Nabi F; Ahmad O; Marques JP; Ahmad T
BMC Ophthalmol; 2022 Dec; 22(1):493. PubMed ID: 36527004
[TBL] [Abstract][Full Text] [Related]
20. Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Birtel J; Gliem M; Herrmann P; MacLaren RE; Bolz HJ; Charbel Issa P
Ophthalmol Retina; 2020 May; 4(5):523-529. PubMed ID: 32147488
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
