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Results: 1 to 20 of 117

Related Citations for PubMed (Select 22906289)

1.
2.

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL.

Mol Vis. 2008 Aug 18;14:1503-12.

3.

TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.

Liang Q, Sun X, Jin X.

Ophthalmic Physiol Opt. 2012 Jan;32(1):74-80. doi: 10.1111/j.1475-1313.2011.00867.x. Epub 2011 Sep 8.

PMID:
21899585
4.

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.

Ophthalmology. 2009 Jan;116(1):46-51. doi: 10.1016/j.ophtha.2008.08.050. Epub 2008 Nov 18.

PMID:
19019446
5.
6.

[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].

Tian X, Liu ZG, Li Q, Li B, Wang W, Xie PY, Fujiki K, Murakami A, Kanai A.

Zhonghua Yan Ke Za Zhi. 2005 Mar;41(3):239-42. Chinese.

PMID:
15840366
7.

TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Ma K, Liu G, Yang Y, Yu M, Sui R, Yu W, Chen X, Deng Y, Yan N, Cao G, Liu X.

Mol Vis. 2010 Mar 31;16:556-61.

8.

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.

Zhao XC, Nakamura H, Subramanyam S, Stock LE, Gillette TE, Yoshikawa S, Ma X, Yee RW.

Ophthalmology. 2007 Nov;114(11):e39-46.

PMID:
17980739
9.
10.

Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.

Okada M, Yamamoto S, Tsujikawa M, Watanabe H, Inoue Y, Maeda N, Shimomura Y, Nishida K, Quantock AJ, Kinoshita S, Tano Y.

Am J Ophthalmol. 1998 Oct;126(4):535-42.

PMID:
9780098
11.

An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

Li D, Qi Y, Wang L, Lin H, Zhou N, Zhao L.

Mol Vis. 2008 Jul 11;14:1298-302.

12.

Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Yang QN, Zhao YW, Guo LH, Yan NH, Liu XY, Cai SP.

Int J Ophthalmol. 2011;4(3):235-8. doi: 10.3980/j.issn.2222-3959.2011.03.03. Epub 2011 Jun 18.

13.

Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.

Chang L, Zhiqun W, Shijing D, Chen Z, Qingfeng L, Li L, Xuguang S.

Arch Ophthalmol. 2009 May;127(5):641-4. doi: 10.1001/archophthalmol.2009.71.

PMID:
19433713
14.

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.

Fujiki K, Hotta Y, Nakayasu K, Yamaguchi T, Kato T, Uesugi Y, Ha NT, Endo S, Ishida N, Lu WN, Kanai A.

Cornea. 2000 Nov;19(6):842-5.

PMID:
11095060
15.

[Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy].

Li DD, Qi YH, Han Q, Lin H, Zhao LM, Zhang CM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):245-8. doi: 10.3760/cma.j.issn.1003-9406.2009.03.002. Chinese.

PMID:
19504432
16.

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

Tian X, Fujiki K, Wang W, Murakami A, Xie P, Kanai A, Liu Z.

Jpn J Ophthalmol. 2005 Mar-Apr;49(2):84-8.

PMID:
15838722
17.
18.

TGFBI gene mutations in Brazilian patients with corneal dystrophy.

Solari HP, Ventura MP, Perez AB, Sallum JM, Burnier MN Jr, Belfort R Jr.

Eye (Lond). 2007 May;21(5):587-90. Epub 2006 Jan 27.

PMID:
16440005
19.

Molecular genetics of Chinese families with TGFBI corneal dystrophies.

Zhang T, Yan N, Yu W, Liu Y, Liu G, Wu X, Lian J, Liu X.

Mol Vis. 2011 Feb 4;17:380-7.

20.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P, Vogel M, Diaz JM, Romero MP, Herrera L.

Mol Vis. 2008 May 7;14:829-35.

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