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Items: 1 to 20 of 40

1.

Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations.

Hirashima T, Miyata M, Ishihara K, Hasegawa T, Sugahara M, Ogino K, Yoshikawa M, Hata M, Kuroda Y, Muraoka Y, Ooto S, Yoshimura N.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3871-3878. doi: 10.1167/iovs.17-21515.

PMID:
28763560
2.

Expression of CYP4V2 in human THP1 macrophages and its transcriptional regulation by peroxisome proliferator-activated receptor gamma.

Yi M, Shin JG, Lee SJ.

Toxicol Appl Pharmacol. 2017 Sep 1;330:100-106. doi: 10.1016/j.taap.2017.07.009. Epub 2017 Jul 17.

PMID:
28729181
3.

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2.

Lockhart CM, Smith TB, Yang P, Naidu M, Rettie AE, Nath A, Weleber R, Kelly EJ.

Br J Ophthalmol. 2018 Feb;102(2):187-194. doi: 10.1136/bjophthalmol-2016-309696. Epub 2017 Jul 11.

PMID:
28698241
4.

Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.

Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Trinavarat A, Atchaneeyasakul LO.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2413-2420. doi: 10.1167/iovs.16-21322.

PMID:
28453600
5.

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.

6.

CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.

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

Retina. 2017 Jun;37(6):1193-1202. doi: 10.1097/IAE.0000000000001323.

PMID:
27658286
7.

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.

Katagiri S, Hayashi T, Gekka T, Tsuneoka H.

Ophthalmic Genet. 2017 May-Jun;38(3):286-287. doi: 10.1080/13816810.2016.1193880. Epub 2016 Jun 27. No abstract available.

PMID:
27348340
8.

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.

Fuerst NM, Serrano L, Han G, Morgan JI, Maguire AM, Leroy BP, Kim BJ, Aleman TS.

Ophthalmic Genet. 2016 Dec;37(4):445-452. Epub 2016 Mar 30.

9.

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
10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

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
16.

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
17.

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
18.

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.

19.

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.

20.

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.

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