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Results: 1 to 20 of 132

1.

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

Huo YN, Yao YF, Yu P.

J Zhejiang Univ Sci B. 2011 Sep;12(9):687-93. doi: 10.1631/jzus.B1100011.

PMID:
21887843
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Long Y, Gu YS, Han W, Li XY, Yu P, Qi M.

J Zhejiang Univ Sci B. 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154.

PMID:
21462384
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy.

Ha NT, Chau HM, Cung le X, Thanh TK, Fujiki K, Murakami A, Hiratsuka Y, Kanai A.

Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3310-6.

PMID:
12882775
[PubMed - indexed for MEDLINE]
Free Article
4.

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
5.

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

Liu NP, Dew-Knight S, Rayner M, Jonasson F, Akama TO, Fukuda MN, Bao W, Gilbert JR, Vance JM, Klintworth GK.

Mol Vis. 2000 Dec 13;6:261-4.

PMID:
11139648
[PubMed - indexed for MEDLINE]
Free Article
6.

TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies.

Li Y, Li T, Song XS, Li JZ, Wu QS, Li HY.

Int J Ophthalmol. 2012;5(3):301-6. doi: 10.3980/j.issn.2222-3959.2012.03.10. Epub 2012 Jun 18.

PMID:
22773977
[PubMed]
Free PMC Article
7.

Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K.

Am J Ophthalmol. 2004 Mar;137(3):465-73.

PMID:
15013869
[PubMed - indexed for MEDLINE]
8.

Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.

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

Cornea. 2010 Aug;29(8):883-8. doi: 10.1097/ICO.0b013e3181ca2e74.

PMID:
20539220
[PubMed - indexed for MEDLINE]
9.

Novel mutations in the CHST6 gene causing macular corneal dystrophy.

Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M.

Clin Genet. 2004 Feb;65(2):120-5.

PMID:
14984470
[PubMed - indexed for MEDLINE]
10.

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
11.

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND.

Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82.

PMID:
11818380
[PubMed - indexed for MEDLINE]
Free Article
12.

R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.

Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Escribano J.

Mol Vis. 2007 Aug 10;13:1390-6.

PMID:
17768377
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.

Liu NP, Smith CF, Bowling BL, Jonasson F, Klintworth GK.

Mol Vis. 2006 Oct 2;12:1148-52.

PMID:
17093400
[PubMed - indexed for MEDLINE]
Free Article
15.

Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.

Sultana A, Sridhar MS, Jagannathan A, Balasubramanian D, Kannabiran C, Klintworth GK.

Mol Vis. 2003 Dec 22;9:730-4.

PMID:
14735064
[PubMed - indexed for MEDLINE]
Free Article
16.

Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.

Warren JF, Aldave AJ, Srinivasan M, Thonar EJ, Kumar AB, Cevallos V, Whitcher JP, Margolis TP.

Arch Ophthalmol. 2003 Nov;121(11):1608-12.

PMID:
14609920
[PubMed - indexed for MEDLINE]
17.

Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.

Patel DA, Harocopos GJ, Chang SH, Vora SC, Lubniewski AJ, Huang AJ.

Cornea. 2011 Jun;30(6):664-9. doi: 10.1097/ICO.0b013e3182012888.

PMID:
21242781
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy.

Birgani SA, Salehi Z, Houshmand M, Mohamadi MJ, Promehr LA, Mozafarzadeh Z.

Mol Vis. 2009;15:373-7. Epub 2009 Feb 18.

PMID:
19223992
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

Dang X, Zhu Q, Wang L, Su H, Lin H, Zhou N, Liang T, Wang Z, Huang S, Ren Q, Qi Y.

Mol Vis. 2009;15:700-5. Epub 2009 Apr 6.

PMID:
19365571
[PubMed - indexed for MEDLINE]
Free PMC Article

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