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Items: 1 to 20 of 43

1.

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient.

Park YJ, Hwang DJ, Seong MW, Park SS, Woo SJ.

Korean J Ophthalmol. 2016 Feb;30(1):81-3. doi: 10.3341/kjo.2016.30.1.81. Epub 2016 Jan 21. No abstract available.

2.

Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy.

Miyata M, Ooto S, Ogino K, Gotoh N, Morooka S, Makiyama Y, Hasegawa T, Sugahara M, Hata M, Yamashiro K, Yoshimura N.

Am J Ophthalmol. 2016 Jan;161:196-205.e1. doi: 10.1016/j.ajo.2015.10.018. Epub 2015 Oct 30.

PMID:
26521715
3.

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.

4.

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.

5.

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
6.

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
7.

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
8.

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
9.

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.

10.

Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.

Wang Y, Guo L, Cai SP, Dai M, Yang Q, Yu W, Yan N, Zhou X, Fu J, Guo X, Han P, Wang J, Liu X.

PLoS One. 2012;7(5):e33673. doi: 10.1371/journal.pone.0033673. Epub 2012 May 31.

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.

12.

Bietti Crystalline Dystrophy.

Okialda KA, Stover NB, Weleber RG, Kelly EJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Apr 12 [updated 2012 Jun 14].

13.

The characterization of functional disturbances in Chinese patients with Bietti's crystalline dystrophy at different fundus stages.

Liu DN, Liu Y, Meng XH, Yin ZQ.

Graefes Arch Clin Exp Ophthalmol. 2012 Feb;250(2):191-200. doi: 10.1007/s00417-011-1809-3. Epub 2011 Sep 3.

PMID:
21892605
14.

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.

15.

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
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.

17.

Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase.

Nakano M, Kelly EJ, Rettie AE.

Drug Metab Dispos. 2009 Nov;37(11):2119-22. doi: 10.1124/dmd.109.028530. Epub 2009 Aug 6.

18.

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.

19.

Gene variants associated with deep vein thrombosis.

Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, Catanese J, Young BA, Reitsma PH, Devlin JJ, Rosendaal FR.

JAMA. 2008 Mar 19;299(11):1306-14. doi: 10.1001/jama.299.11.1306.

PMID:
18349091
20.

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

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