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Results: 1 to 20 of 122

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
15937078
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
16179904
[PubMed - indexed for MEDLINE]
Free Article
6.

Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.

Zenteno JC, Ayala-Ramirez R, Graue-Wiechers F.

Curr Eye Res. 2008 Apr;33(4):313-8. doi: 10.1080/02713680801983217.

PMID:
18398705
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene.

Chung JK, Shin JH, Jeon BR, Ki CS, Park TK.

Jpn J Ophthalmol. 2013 Sep;57(5):447-50. doi: 10.1007/s10384-013-0256-6. Epub 2013 Jun 22.

PMID:
23793346
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
Free Article
10.

A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy.

Yokoi Y, Sato K, Aoyagi H, Takahashi Y, Yamagami M, Nakazawa M.

Case Rep Ophthalmol. 2011 Sep;2(3):296-301. doi: 10.1159/000331885. Epub 2011 Sep 6.

PMID:
22087103
[PubMed]
Free PMC Article
11.

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.

PMID:
22605929
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
21850171
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
15042513
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

An atypical form of Bietti crystalline dystrophy.

Rossi S, Testa F, Li A, Iorio VD, Zhang J, Gesualdo C, Corte MD, Chan CC, Fielding Hejtmancik J, Simonelli F.

Ophthalmic Genet. 2011 Jun;32(2):118-21. doi: 10.3109/13816810.2011.559653. Epub 2011 Mar 8.

PMID:
21385027
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.

García-García GP, López-Garrido MP, Martínez-Rubio M, Moya-Moya MA, Belmonte-Martínez J, Escribano J.

Cornea. 2013 Jul;32(7):1002-8. doi: 10.1097/ICO.0b013e31828a27bc.

PMID:
23538635
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article

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