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Items: 1 to 20 of 106

1.

Clinical and genetic features in Italian Bietti crystalline dystrophy patients.

Rossi S, Testa F, Li A, Yaylacioğlu F, Gesualdo C, Hejtmancik JF, Simonelli F.

Br J Ophthalmol. 2013 Feb;97(2):174-9. doi: 10.1136/bjophthalmol-2012-302469. Epub 2012 Dec 6.

2.

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.

3.

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.

4.

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
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.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.

Ophthalmology. 2014 Jun;121(6):1174-84. doi: 10.1016/j.ophtha.2013.11.042. Epub 2014 Jan 28.

PMID:
24480711
7.

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.

8.

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.

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.

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
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.

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
13.

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
14.

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.

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.

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.

17.

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
18.

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
19.

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
20.

Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings.

Manzouri B, Sergouniotis PI, Robson AG, Webster AR, Moore A.

Arch Ophthalmol. 2012 Nov;130(11):1470-3. doi: 10.1001/archophthalmol.2012.1567. No abstract available.

PMID:
23143451
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