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Results: 1 to 20 of 56

PubMed Links for Books (Select 1481292)

1.

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
2.

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

Zhao L, Grob S, Corey R, Krupa M, Luo J, Du H, Lee C, Hughes G, Lee J, Quach J, Zhu J, Shaw PX, Kozak I, Zhang K.

Eye (Lond). 2012 Jun;26(6):866-71. doi: 10.1038/eye.2012.27. Epub 2012 Mar 16.

3.

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD.

Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. No abstract available.

4.

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. Epub 2011 Aug 2.

PMID:
21809908
5.

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
6.

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
7.

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.

8.

Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C.

Ophthalmic Genet. 2008 Sep;29(3):139-44. doi: 10.1080/13816810802087394.

PMID:
18766995
9.

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

Testa F, Rossi S, Passerini I, Sodi A, Di Iorio V, Interlandi E, Della Corte M, Menchini U, Rinaldi E, Torricelli F, Simonelli F.

Br J Ophthalmol. 2008 Nov;92(11):1467-70. doi: 10.1136/bjo.2008.143776. Epub 2008 Aug 14.

PMID:
18703557
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.

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD.

J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.

PMID:
18611979
12.

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.

13.

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.

Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT.

Physiol Rev. 2008 Apr;88(2):639-72. doi: 10.1152/physrev.00022.2007. Review.

14.

Fundus autofluorescence imaging of retinal dystrophies.

Boon CJ, Jeroen Klevering B, Keunen JE, Hoyng CB, Theelen T.

Vision Res. 2008 Nov;48(26):2569-77. doi: 10.1016/j.visres.2008.01.010. Epub 2008 Mar 4.

15.

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.

16.

Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.

Yu K, Qu Z, Cui Y, Hartzell HC.

Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4694-705.

PMID:
17898294
17.

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
18.

Choroidal neovascularisation secondary to Best's disease in a 13-year-old boy treated by intravitreal bevacizumab.

Leu J, Schrage NF, Degenring RF.

Graefes Arch Clin Exp Ophthalmol. 2007 Nov;245(11):1723-5. Epub 2007 Jun 29.

PMID:
17605026
19.

Age-related macular degeneration: a perspective on genetic studies.

Patel N, Adewoyin T, Chong NV.

Eye (Lond). 2008 Jun;22(6):768-76. Epub 2007 May 11. Review.

PMID:
17491602
20.

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.

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