Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 353

1.

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. Epub 2011 Aug 23.

2.

Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.

Wittström E, Ponjavic V, Bondeson ML, Andréasson S.

Ophthalmic Genet. 2011 Nov;32(4):217-27. doi: 10.3109/13816810.2011.567884. Epub 2011 Apr 7.

PMID:
21473666
3.

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. doi: 10.1097/IAE.0000000000000950.

PMID:
26716959
4.

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 29;17:309-22.

5.

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. doi: 10.1001/archophthalmol.2010.367.

PMID:
21320969
6.

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 28;52(7):4678-84. doi: 10.1167/iovs.10-6500.

PMID:
21436265
7.

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. Epub 2016 Apr 15.

PMID:
27078032
8.

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. doi: 10.1167/iovs.15-18168.

PMID:
26720466
9.

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. doi: 10.1007/s10633-016-9540-3. Epub 2016 Apr 12.

10.

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. doi: 10.1097/OPX.0000000000000639.

PMID:
26099059
11.

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. doi: 10.1007/s10633-014-9444-z. Epub 2014 May 24.

12.

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.

Tian R, Yang G, Wang J, Chen Y.

Mol Vis. 2014 Nov 11;20:1594-604. eCollection 2014.

13.

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. Epub 2011 Nov 24.

14.

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. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3.

PMID:
23290749
15.

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 18;52(8):5332-8. doi: 10.1167/iovs.11-7174.

PMID:
21467170
16.

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. doi: 10.1097/IAE.0000000000000966.

17.

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 Jan 5;12(1):e0169395. doi: 10.1371/journal.pone.0169395. eCollection 2017.

18.

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. doi: 10.1136/bjophthalmol-2015-306830. Epub 2015 Jul 22.

PMID:
26201355
19.

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. doi: 10.3892/mmr.2015.3711. Epub 2015 Apr 30.

20.

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. doi: 10.1001/archophthalmol.2009.148.

Supplemental Content

Support Center