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Results: 1 to 20 of 177

1.

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.

PMID:
20360992
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
18728790
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
22553651
[PubMed]
Free PMC Article
6.

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.

PMID:
18470323
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
18636123
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Liu Z, Wang YQ, Gong QH, Xie LX.

Mol Vis. 2008 Jun 30;14:1234-9.

PMID:
18615206
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.

Cao W, Ge H, Cui X, Zhang L, Bai J, Fu S, Liu P.

Mol Vis. 2009;15:70-5. Epub 2009 Jan 14.

PMID:
19145249
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

[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
[PubMed - indexed for MEDLINE]
11.

Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy.

Zhong X, Chen S, Huang W, Yang J, Chen X, Zhou Y, Zhou Q, Wang Y.

Mol Vis. 2010 Feb 15;16:224-30.

PMID:
20161820
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.

Gu Z, Zhao P, He G, Wan C, Ma G, Yu L, Zhang J, Feng G, He L, Gao L.

Mol Vis. 2011;17:3200-7. Epub 2011 Dec 13.

PMID:
22194646
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.
16.

Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.

Piao MZ, Zhou XT, Wu LC, Chu RY.

J Int Med Res. 2012;40(3):1149-55.

PMID:
22906289
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

TGFBI gene mutations in a Korean population with corneal dystrophy.

Cho KJ, Mok JW, Na KS, Rho CR, Byun YS, Hwang HS, Hwang KY, Joo CK.

Mol Vis. 2012;18:2012-21. Epub 2012 Jul 20.

PMID:
22876129
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.

Pampukha VM, Drozhyna GI, Livshits LA.

Ophthalmologica. 2004 Nov-Dec;218(6):411-4.

PMID:
15564760
[PubMed - indexed for MEDLINE]
20.

Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X.

Mol Vis. 2010 Jun 30;16:1186-93. Review.

PMID:
20664689
[PubMed - indexed for MEDLINE]
Free PMC Article

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