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Items: 1 to 20 of 252

1.

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.

2.

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Hou YC, Wang IJ, Hsiao CH, Chen WL, Hu FR.

Mol Vis. 2012;18:362-71. Epub 2012 Feb 7.

3.

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.

4.

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.

Takács L, Losonczy G, Matesz K, Balogh I, Sohajda Z, Tóth K, Fazakas F, Vereb G, Berta A.

Mol Vis. 2007 Oct 18;13:1976-83.

PMID:
17982422
5.

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.

6.

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.

7.

[A research on TGFBI gene mutations in Chinese families with corneal dystrophies].

Qi YH, He HD, Li Y, Lin H, Gu JZ, Su H, Huang SZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):310-2. Chinese.

PMID:
16767671
8.

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.

9.

[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy].

Qi YH, He HD, Li Y, Wang L, Lin H, Su H, Gu JZ, Huang SZ.

Zhonghua Yan Ke Za Zhi. 2007 Aug;43(8):718-21. Chinese.

PMID:
18001570
10.

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
11.
12.

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
13.

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
14.

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
15.

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
16.

[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
17.

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.

Liskova P, Klintworth GK, Bowling BL, Filipec M, Jirsova K, Tuft SJ, Bhattacharya SS, Hardcastle AJ, Ebenezer ND.

Ophthalmic Res. 2008;40(2):105-8. doi: 10.1159/000115325. Epub 2008 Feb 6.

PMID:
18259096
18.

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.

19.

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.

Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Kaur P, Dube D, Vajpayee RB.

Mol Vis. 2010 Jul 29;16:1429-38.

20.

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.

Nowińska AK, Wylegala E, Janiszewska DA, Dobrowolski D, Aragona P, Roszkowska AM, Puzzolo D.

Mol Vis. 2011;17:2333-42. Epub 2011 Aug 30.

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