PubMed

Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the betaigh3 gene.

Yoo SY, Kim TI, Lee SY, Kim EK, Keum KC, Yoo NC, Yoo WM.

Br J Ophthalmol. 2007 Jun;91(6):722-7. Epub 2007 Jan 10.PMID: 17215264 [PubMed - indexed for MEDLINE]Related articles

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

Fujiki K, Hotta Y, Nakayasu K, Yokoyama T, Takano T, Yamaguchi T, Kanai A.

Hum Genet. 1998 Sep;103(3):286-9.PMID: 9799082 [PubMed - indexed for MEDLINE]Related articles

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

Afshari NA, Mullally JE, Afshari MA, Steinert RF, Adamis AP, Azar DT, Talamo JH, Dohlman CH, Dryja TP.

Arch Ophthalmol. 2001 Jan;119(1):16-22.PMID: 11146721 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.

Yoshida S, Yamaji Y, Yoshida A, Noda Y, Kumano Y, Ishibashi T.

Hum Genet. 2005 May;116(6):518-24. Epub 2005 Mar 3.PMID: 15744520 [PubMed - indexed for MEDLINE]Related articles

[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]

Jin T, Zou LH, Yang L, Dong WL, Yu J, Lu L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):32-4. Chinese. PMID: 14767905 [PubMed - indexed for MEDLINE]Related articles

[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]

Grünauer-Kloevekorn C, Bräutigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI.

Klin Monbl Augenheilkd. 2005 Dec;222(12):1017-23. German. PMID: 16380889 [PubMed - indexed for MEDLINE]Related articles

The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy.

Yamamoto S, Okada M, Tsujikawa M, Morimura H, Maeda N, Watanabe H, Inoue Y, Shimomura Y, Kinoshita S, Tano Y.

Cornea. 2000 May;19(3 Suppl):S21-3.PMID: 10832717 [PubMed - indexed for MEDLINE]Related articles

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect.

Tsujikawa K, Tsujikawa M, Watanabe H, Maeda N, Inoue Y, Fujikado T, Tano Y.

J Hum Genet. 2007;52(1):92-7. Epub 2006 Nov 10.PMID: 17096061 [PubMed - indexed for MEDLINE]Related articles

[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies]

Yu J, Zou LH, He JC, Liu NP, Zhang W, Lu L, Sun XG, Dong DS, Wu YY, Yin XT.

Zhonghua Yan Ke Za Zhi. 2003 Oct;39(10):582-6. Chinese. PMID: 14766070 [PubMed - indexed for MEDLINE]Related articles

Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.

Huerva V, Velasco A, Sanchez MC, Matias-Guiu X.

Eur J Ophthalmol. 2008 May-Jun;18(3):345-50.PMID: 18465714 [PubMed - indexed for MEDLINE]Related articles

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

El-Ashry MF, Abd El-Aziz MM, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

Ophthalmic Res. 2005 Nov-Dec;37(6):310-7. Epub 2005 Aug 23.PMID: 16118514 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

[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]Related articles

Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.

Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, Ishii Y, Tano Y.

Invest Ophthalmol Vis Sci. 1998 Sep;39(10):1947-53.PMID: 9727418 [PubMed - indexed for MEDLINE]Related articlesFree article

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.

Yoshida S, Kumano Y, Yoshida A, Hisatomi T, Matsui H, Nishida T, Ishibashi T, Matsui T.

Jpn J Ophthalmol. 2002 Jul-Aug;46(4):469-71.PMID: 12225829 [PubMed - indexed for MEDLINE]Related articles

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK.

Invest Ophthalmol Vis Sci. 2005 Jan;46(1):121-5.PMID: 15623763 [PubMed - indexed for MEDLINE]Related articlesFree article

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]

Grünauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Völcker HE, Heinritz W, Froster U, Duncker G.

Klin Monbl Augenheilkd. 2006 Oct;223(10):829-36. German. PMID: 17063427 [PubMed - indexed for MEDLINE]Related articles

BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.

Kim HS, Yoon SK, Cho BJ, Kim EK, Joo CK.

Cornea. 2001 Nov;20(8):844-9.PMID: 11685063 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article