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    Results: 1 to 20 of 101

    1.

    De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

    Hilton EN, Black GC, Manson FD, Schorderet DF, Munier FL.

    Br J Ophthalmol. 2007 Aug;91(8):1083-4. No abstract available. PMID: 17638818 [PubMed - indexed for MEDLINE]Related articles

    2.

    [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

    3.

    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

    4.

    [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

    5.

    Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.

    Li Y, Sun XG, Ren HY, Dong B, Wang ZQ, Sun XY.

    Chin Med J (Engl). 2004 Sep;117(9):1418-21.PMID: 15377440 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    [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

    7.

    An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.

    Hou YC, Hu FR, Chen MS.

    J Formos Med Assoc. 2003 Feb;102(2):117-20.PMID: 12709742 [PubMed - indexed for MEDLINE]Related articles

    8.

    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

    9.

    A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.

    Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS.

    Ophthalmology. 2005 Jun;112(6):1017-22.PMID: 15885785 [PubMed - indexed for MEDLINE]Related articles

    10.

    Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.

    Tanhehco TY, Eifrig DE Jr, Schwab IR, Rapuano CJ, Klintworth GK.

    Arch Ophthalmol. 2006 Apr;124(4):589-93. No abstract available. PMID: 16606891 [PubMed - indexed for MEDLINE]Related articles

    11.

    The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients.

    Konishi M, Mashima Y, Yamada M, Kudoh J, Shimizu N.

    Am J Ophthalmol. 1998 Sep;126(3):450-2.PMID: 9744382 [PubMed - indexed for MEDLINE]Related articles

    12.

    A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

    Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF.

    Hum Mutat. 2006 Jun;27(6):553-7.PMID: 16652336 [PubMed - indexed for MEDLINE]Related articles

    13.

    [Molecular genetic study on patients with lattice corneal dystrophy in China.]

    Dong WL, Zou LH, Pan ZQ, Jin T, Yu J.

    Zhonghua Yan Ke Za Zhi. 2005 Jun;41(6):523-6. Chinese. PMID: 16008913 [PubMed - indexed for MEDLINE]Related articles

    14.

    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

    15.

    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

    16.

    p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I.

    Yu P, Gu Y, Jin F, Hu R, Chen L, Yan X, Yang Y, Qi M.

    Genet Test. 2008 Sep;12(3):421-5.PMID: 18752451 [PubMed - indexed for MEDLINE]Related articles

    17.

    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]Related articles

    18.

    Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.

    Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK.

    Am J Ophthalmol. 2004 Nov;138(5):772-81.PMID: 15531312 [PubMed - indexed for MEDLINE]Related articles

    19.

    A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy.

    Mashima Y, Nakamura Y, Noda K, Konishi M, Yamada M, Kudoh J, Shimizu N.

    Arch Ophthalmol. 1999 Jan;117(1):90-3.PMID: 9930165 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene.

    Dighiero P, Valleix S, D'Hermies F, Drunat S, Ellies P, Savoldelli M, Pouliquen Y, Delpech M, Legeais JM, Renard G.

    Ophthalmology. 2000 Jul;107(7):1353-7.PMID: 10889112 [PubMed - indexed for MEDLINE]Related articles

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