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Items: 1 to 20 of 56

1.

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
2.

The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains.

Yu K, Xiao Q, Cui G, Lee A, Hartzell HC.

J Neurosci. 2008 May 28;28(22):5660-70. doi: 10.1523/JNEUROSCI.0065-08.2008.

3.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.

Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004.

4.

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.

Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F.

J Fr Ophtalmol. 2007 Jun;30(6):616-20.

5.

Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.

Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM.

Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3372-80.

PMID:
17591911
6.

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.

Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A.

Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3283-91.

PMID:
17591900
7.

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).

Bakall B, Radu RA, Stanton JB, Burke JM, McKay BS, Wadelius C, Mullins RF, Stone EM, Travis GH, Marmorstein AD.

Exp Eye Res. 2007 Jul;85(1):34-43. Epub 2007 Mar 19.

PMID:
17477921
8.

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.

Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD.

Invest Ophthalmol Vis Sci. 2007 May;48(5):1959-67.

9.

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.

Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.

J Med Genet. 2007 Mar;44(3):e70. Epub 2007 Feb 7.

10.

VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family.

Esumi N, Kachi S, Campochiaro PA, Zack DJ.

J Biol Chem. 2007 Jan 19;282(3):1838-50. Epub 2006 Nov 3.

11.

Vitelliform macular dystrophy.

Spaide RF, Noble K, Morgan A, Freund KB.

Ophthalmology. 2006 Aug;113(8):1392-400.

PMID:
16877078
12.

A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy.

Li Y, Wang G, Dong B, Sun X, Turner MJ, Kamaya S, Zhang K.

Ann Acad Med Singapore. 2006 Jun;35(6):408-10.

13.

Novel de novo mutation in a patient with Best macular dystrophy.

Apushkin MA, Fishman GA, Taylor CM, Stone EM.

Arch Ophthalmol. 2006 Jun;124(6):887-9.

PMID:
16769844
14.

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.

Schatz P, Klar J, Andréasson S, Ponjavic V, Dahl N.

Ophthalmic Genet. 2006 Jun;27(2):51-6.

PMID:
16754206
15.

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1).

Marmorstein LY, Wu J, McLaughlin P, Yocom J, Karl MO, Neussert R, Wimmers S, Stanton JB, Gregg RG, Strauss O, Peachey NS, Marmorstein AD.

J Gen Physiol. 2006 May;127(5):577-89.

16.

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
17.

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation.

Mullins RF, Oh KT, Heffron E, Hageman GS, Stone EM.

Arch Ophthalmol. 2005 Nov;123(11):1588-94.

PMID:
16286623
18.

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells.

Rosenthal R, Bakall B, Kinnick T, Peachey N, Wimmers S, Wadelius C, Marmorstein A, Strauss O.

FASEB J. 2006 Jan;20(1):178-80. Epub 2005 Nov 10.

PMID:
16282372
19.

Late onset is common in best macular dystrophy associated with VMD2 gene mutations.

Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH, Kellner U.

Ophthalmology. 2005 Apr;112(4):586-92.

PMID:
15808248
20.

A model of best vitelliform macular dystrophy in rats.

Marmorstein AD, Stanton JB, Yocom J, Bakall B, Schiavone MT, Wadelius C, Marmorstein LY, Peachey NS.

Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3733-9.

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