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Results: 1 to 20 of 124

Similar articles for PubMed (Select 9662395)

1.

Identification of the gene responsible for Best macular dystrophy.

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C.

Nat Genet. 1998 Jul;19(3):241-7.

PMID:
9662395
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.

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

Kinnick TR, Mullins RF, Dev S, Leys M, Mackey DA, Kay CN, Lam BL, Fishman GA, Traboulsi E, Iezzi R, Stone EM.

Retina. 2011 Mar;31(3):581-95. doi: 10.1097/IAE.0b013e318203ee60.

PMID:
21273940
4.

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. Epub 2010 Dec 30.

PMID:
21192766
5.

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. Epub 2010 Nov 15.

PMID:
21077756
6.

VMD2 mutational analysis in a Japanese family with Best macular dystrophy.

Shiose S, Yoshida S, Ishikawa K, Ishibashi T.

Oman J Ophthalmol. 2009 Sep;2(3):143-4. doi: 10.4103/0974-620X.57317. No abstract available.

7.

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T.

Am J Hum Genet. 2010 Sep 10;87(3):424-9. doi: 10.1016/j.ajhg.2010.08.009.

8.

Bestrophins and retinopathies.

Xiao Q, Hartzell HC, Yu K.

Pflugers Arch. 2010 Jul;460(2):559-69. doi: 10.1007/s00424-010-0821-5. Epub 2010 Mar 28. Review.

9.

Unexpected transcriptional activity of the human VMD2 promoter in retinal development.

Zhu M, Zheng L, Ueki Y, Ash JD, Le YZ.

Adv Exp Med Biol. 2010;664:211-6. doi: 10.1007/978-1-4419-1399-9_24.

PMID:
20238019
10.

Genetics and molecular pathology of Stargardt-like macular degeneration.

Vasireddy V, Wong P, Ayyagari R.

Prog Retin Eye Res. 2010 May;29(3):191-207. doi: 10.1016/j.preteyeres.2010.01.001. Epub 2010 Jan 21. Review.

11.

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
12.

[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].

Ouyang YL, Zhang YJ, Xu GZ, Jiang R, Chen Q, Wang L.

Zhonghua Yan Ke Za Zhi. 2008 Apr;44(4):321-6. Chinese.

PMID:
18844018
13.

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
14.

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
15.

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.

16.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.

Mol Vis. 2008 Feb 4;14:262-7.

17.

Clinical characterization and genetic mapping of North Carolina macular dystrophy.

Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K.

Vision Res. 2008 Feb;48(3):470-7. Epub 2007 Oct 31.

18.

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
19.

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.

20.

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
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