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Items: 1 to 20 of 104

1.

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF.

Am J Hum Genet. 2004 May;74(5):817-26. Epub 2004 Mar 23.

2.

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF.

Am J Hum Genet. 2000 Nov;67(5):1309-13. Epub 2000 Sep 21.

3.

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.

4.

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.

5.

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
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.

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.

8.

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.

Yin X, Yang L, Chen N, Cui H, Zhao L, Feng L, Li A, Zhang H, Ma Z, Li G.

Exp Eye Res. 2016 May;146:154-62. doi: 10.1016/j.exer.2016.03.007. Epub 2016 Mar 10.

PMID:
26971461
9.

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.

10.

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.

11.

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
12.

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
13.

A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.

Song Y, Mo G, Yin G.

Int Ophthalmol. 2013 Jun;33(3):269-76. doi: 10.1007/s10792-012-9686-2. Epub 2012 Dec 14.

PMID:
23242590
14.

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.

Meng XH, Guo H, Xu HW, Li QY, Jin X, Bai Y, Li SY, Yin ZQ.

Mol Vis. 2014 Dec 31;20:1806-14. eCollection 2014.

15.

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
16.

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.

17.

[Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy].

Xu F, Sui RF, Dong FT.

Zhonghua Yan Ke Za Zhi. 2012 Oct;48(10):948-51. Review. Chinese.

PMID:
23302251
18.
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20.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF.

Eur J Hum Genet. 2017 Apr;25(4):461-471. doi: 10.1038/ejhg.2016.184. Epub 2017 Jan 4.

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