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    Results: 1 to 20 of 250

    1.

    A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

    El-Ashry MF, Abd El-Aziz MM, Larkin DF, Clarke B, Cree IA, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.

    Br J Ophthalmol. 2003 Jul;87(7):839-42.PMID: 12812879 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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

    3.

    [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

    4.

    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

    5.

    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

    6.

    Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.

    Konishi M, Yamada M, Nakamura Y, Mashima Y.

    Cornea. 1999 Jul;18(4):424-9.PMID: 10422854 [PubMed - indexed for MEDLINE]Related articles

    7.

    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

    8.

    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

    9.

    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

    10.

    A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

    Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.

    Ophthalmology. 2009 Jan;116(1):46-51. Epub 2008 Nov 18.PMID: 19019446 [PubMed - indexed for MEDLINE]Related articles

    11.

    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]Related articlesFree article

    12.

    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

    13.

    Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

    Stix B, Leber M, Bingemer P, Gross C, Rüschoff J, Fändrich M, Schorderet DF, Vorwerk CK, Zacharias M, Roessner A, Röcken C.

    Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1133-9.PMID: 15790870 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    [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

    15.

    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]Related articlesFree article

    16.

    BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.

    Schmitt-Bernard CF, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S.

    Invest Ophthalmol Vis Sci. 2000 May;41(6):1302-8.PMID: 10798644 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.

    Kocak-Altintas AG, Kocak-Midillioglu I, Akarsu AN, Duman S.

    Cornea. 2001 Jan;20(1):64-8.PMID: 11189007 [PubMed - indexed for MEDLINE]Related articles

    18.

    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

    19.

    BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

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

    Eye (Lond). 2004 Jul;18(7):723-8.PMID: 15017378 [PubMed - indexed for MEDLINE]Related articles

    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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