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Items: 1 to 20 of 200

1.

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Sharon D, Al-Hamdani S, Engelsberg K, Mizrahi-Meissonnier L, Obolensky A, Banin E, Sander B, Jensen H, Larsen M, Schatz P.

Am J Ophthalmol. 2014 Mar;157(3):697-709.e1-2. doi: 10.1016/j.ajo.2013.12.010.

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. doi: 10.1016/j.ophtha.2012.09.057.

PMID:
23290749
3.

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.

4.

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
5.

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. doi: 10.1097/IAE.0000000000000387.

6.

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.

7.

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.

8.

[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. doi: 10.1055/s-0032-1327782. German.

PMID:
23096145
9.

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.

Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T.

Am J Ophthalmol. 2012 Aug;154(2):403-412.e4. doi: 10.1016/j.ajo.2012.02.036.

PMID:
22633354
10.

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. doi: 10.1167/iovs.10-5152.

PMID:
20375334
11.

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
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.

13.

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.

14.

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

MacDonald IM, Gudiseva HV, Villanueva A, Greve M, Caruso R, Ayyagari R.

Ophthalmic Genet. 2012 Sep;33(3):123-9. doi: 10.3109/13816810.2011.592172.

PMID:
21809908
15.

Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).

Gerth C, Zawadzki RJ, Werner JS, Héon E.

Doc Ophthalmol. 2009 Jun;118(3):239-46. doi: 10.1007/s10633-008-9154-5.

16.

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 31;15:2960-72.

17.

Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.

Pomares E, Burés-Jelstrup A, Ruiz-Nogales S, Corcóstegui B, González-Duarte R, Navarro R.

Invest Ophthalmol Vis Sci. 2012 Jan 31;53(1):532-7. doi: 10.1167/iovs.11-7964.

PMID:
22199244
18.

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
19.

Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.

Cascavilla ML, Querques G, Stenirri S, Battaglia Parodi M, Querques L, Bandello F.

Ophthalmic Res. 2012;48(3):146-50. doi: 10.1159/000338750.

PMID:
22584882
20.

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

Wittström E, Ekvall S, Schatz P, Bondeson ML, Ponjavic V, Andréasson S.

Ophthalmic Genet. 2011 Jun;32(2):83-96. doi: 10.3109/13816810.2010.535890.

PMID:
21192766
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