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Items: 1 to 20 of 247

1.

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.

2.

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
3.

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. doi: 10.1097/IAE.0b013e3181f441c1.

PMID:
21242858
4.

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. Epub 2010 Apr 7.

PMID:
20375334
5.

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. doi: 10.1097/IAE.0b013e31819d4fda.

PMID:
19357557
6.

Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.

Booij JC, Boon CJ, van Schooneveld MJ, ten Brink JB, Bakker A, de Jong PT, Hoyng CB, Bergen AA, Klaver CC.

Ophthalmology. 2010 Jul;117(7):1415-22. doi: 10.1016/j.ophtha.2009.11.044. Epub 2010 Apr 9.

PMID:
20381869
7.

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. doi: 10.1097/IAE.0b013e3181c700c1.

PMID:
20057343
8.

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. Epub 2012 May 24.

PMID:
22633354
9.

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.

10.

High-definition optical coherence tomography features in vitelliform macular dystrophy.

Querques G, Regenbogen M, Quijano C, Delphin N, Soubrane G, Souied EH.

Am J Ophthalmol. 2008 Oct;146(4):501-507. doi: 10.1016/j.ajo.2008.05.029. Epub 2008 Jul 10.

PMID:
18619572
11.

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.

12.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Lesch B, Szabó V, Kánya M, Somfai GM, Vámos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A.

Mol Vis. 2008;14:2321-32. Epub 2008 Dec 12.

13.

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.

Ponjavic V, Eksandh L, Andréasson S, Sjöström K, Bakall B, Ingvast S, Wadelius C, Ehinger B.

Ophthalmic Genet. 1999 Dec;20(4):251-7.

PMID:
10617923
14.

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. doi: 10.1136/bjophthalmol-2011-300964. Epub 2011 Dec 15.

PMID:
22174098
15.

Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

Eksandh L, Bakall B, Bauer B, Wadelius C, Andréasson S.

Ophthalmic Genet. 2001 Jun;22(2):107-15.

PMID:
11449320
16.

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.

17.

Multimodal analysis of the progression of Best vitelliform macular dystrophy.

Querques G, Zerbib J, Georges A, Massamba N, Forte R, Querques L, Rozet JM, Kaplan J, Souied EH.

Mol Vis. 2014 Apr 27;20:575-92. eCollection 2014.

18.

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. doi: 10.1016/j.ajo.2014.08.028. Epub 2014 Aug 28.

PMID:
25174897
19.

Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.

Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B.

Graefes Arch Clin Exp Ophthalmol. 2006 Nov;244(11):1453-66. Epub 2006 Apr 13.

PMID:
16612637
20.

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
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