Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 197

1.

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.

PMID:
22174098
2.

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

Meunier I, Sénéchal A, Dhaenens CM, Arndt C, Puech B, Defoort-Dhellemmes S, Manes G, Chazalette D, Mazoir E, Bocquet B, Hamel CP.

Ophthalmology. 2011 Jun;118(6):1130-6. doi: 10.1016/j.ophtha.2010.10.010.

PMID:
21269699
3.

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.

Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. doi: 10.1016/j.ajo.2008.09.007.

PMID:
19038374
4.

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
5.

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.

6.

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
7.

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
8.

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.

PMID:
25174897
9.

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
10.

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.

11.

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
12.

Novel mutation in BEST1 associated with retinoschisis.

Silva RA, Berrocal AM, Lam BL, Albini TA.

JAMA Ophthalmol. 2013 Jun;131(6):794-8. doi: 10.1001/jamaophthalmol.2013.2047. No abstract available. Erratum in: JAMA Ophthalmol. 2013 Sep;131(9):1249.

PMID:
23572118
13.

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. doi: 10.1016/j.ophtha.2014.06.028.

PMID:
25085631
14.

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
15.

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. doi: 10.3109/13816810.2010.524906.

PMID:
21077756
16.

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
17.

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
18.

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
19.

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.

20.

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB.

Arch Ophthalmol. 2007 Aug;125(8):1100-6.

PMID:
17698758
Items per page

Supplemental Content

Support Center