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Results: 1 to 20 of 327

Similar articles for PubMed (Select 16186368)

1.

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.

Lee KY, Koh AH, Aung T, Yong VH, Yeung K, Ang CL, Vithana EN.

Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3812-6.

PMID:
16186368
2.

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.

Shan M, Dong B, Zhao X, Wang J, Li G, Yang Y, Li Y.

Mol Vis. 2005 Sep 12;11:738-43.

3.

Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.

Lai TY, Ng TK, Tam PO, Yam GH, Ngai JW, Chan WM, Liu DT, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5212-20.

PMID:
17962476
4.

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y.

J Med Genet. 2005 Jun;42(6):e38.

5.

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.

Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Mégarbané A.

Mol Vis. 2012;18:1182-8. Epub 2012 May 5.

6.

Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.

Wada Y, Itabashi T, Sato H, Kawamura M, Tada A, Tamai M.

Am J Ophthalmol. 2005 May;139(5):894-9.

PMID:
15860296
7.

Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.

Nakamura M, Lin J, Nishiguchi K, Kondo M, Sugita J, Miyake Y.

Adv Exp Med Biol. 2006;572:49-53.

PMID:
17249554
8.

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.

Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14.

PMID:
17724221
9.

Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization.

Mamatha G, Umashankar V, Kasinathan N, Krishnan T, Sathyabaarathi R, Karthiyayini T, Amali J, Rao C, Madhavan J.

Mol Vis. 2011;17:1970-7. Epub 2011 Jul 20.

10.

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

Xiao X, Mai G, Li S, Guo X, Zhang Q.

Biochem Biophys Res Commun. 2011 Jun 3;409(2):181-6. doi: 10.1016/j.bbrc.2011.04.112. Epub 2011 May 1.

PMID:
21565171
11.

CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.

Gekka T, Hayashi T, Takeuchi T, Goto-Omoto S, Kitahara K.

Ophthalmic Res. 2005 Sep-Oct;37(5):262-9. Epub 2005 Jul 27.

PMID:
16088246
12.

Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene.

Yokoi Y, Nakazawa M, Mizukoshi S, Sato K, Usui T, Takeuchi K.

Acta Ophthalmol. 2010 Aug;88(5):607-9. doi: 10.1111/j.1755-3768.2009.01529.x. Epub 2009 Jun 5.

PMID:
19508456
13.

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10.

PMID:
20220053
14.

Central areolar choroidal dystrophy.

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

Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. doi: 10.1016/j.ophtha.2008.12.019. Epub 2009 Feb 25.

PMID:
19243827
15.

Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

Yin H, Jin C, Fang X, Miao Q, Zhao Y, Chen Z, Su Z, Ye P, Wang Y, Yin J.

PLoS One. 2014 Apr 16;9(4):e94960. doi: 10.1371/journal.pone.0094960. eCollection 2014.

16.

Clinical and molecular findings in three Japanese patients with crystalline retinopathy.

Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-i N.

Jpn J Ophthalmol. 2006 Sep-Oct;50(5):426-31.

PMID:
17013694
17.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.

Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471.

PMID:
18235024
18.

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.

Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8.

PMID:
18055789
19.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.

20.

Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes.

Lai TY, Chu KO, Chan KP, Ng TK, Yam GH, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1092-7. doi: 10.1167/iovs.09-3665. Epub 2009 Sep 24.

PMID:
19797200
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