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Journal Abstract Search

194 related items for PubMed ID: 10949816

  • 1. [Mutations in the keratin gene as a cause of Meesman-Wilke corneal dystrophy and autosomal dominant skin cornification disorders].
    Swensson O, Swensson B, Nölle B, Rochels R, Wannke B, Thiel HJ.
    Klin Monbl Augenheilkd; 2000 Jul; 217(1):43-51. PubMed ID: 10949816
    [Abstract] [Full Text] [Related]

  • 2. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
    Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH.
    Nat Genet; 1997 Jun; 16(2):184-7. PubMed ID: 9171831
    [Abstract] [Full Text] [Related]

  • 3. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
    Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH.
    Exp Eye Res; 2000 Jan; 70(1):41-9. PubMed ID: 10644419
    [Abstract] [Full Text] [Related]

  • 4. Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
    Nichini O, Manzi Vd, Munier FL, Schorderet DF.
    Ophthalmic Genet; 2005 Dec; 26(4):169-73. PubMed ID: 16352477
    [Abstract] [Full Text] [Related]

  • 5. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
    Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJ, Black GC, McLean WH.
    Br J Ophthalmol; 2002 Jul; 86(7):729-32. PubMed ID: 12084738
    [Abstract] [Full Text] [Related]

  • 6. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
    Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S.
    Am J Hum Genet; 1997 Dec; 61(6):1268-75. PubMed ID: 9399908
    [Abstract] [Full Text] [Related]

  • 7. Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
    Shiraishi A, Kao CW, Ishizaki M, Zhang Z, Converse RL, Tseng SC, Svoboda KK, Kao WW.
    Curr Eye Res; 1998 May; 17(5):531-40. PubMed ID: 9617549
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
    Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH.
    Am J Ophthalmol; 1999 Dec; 128(6):687-91. PubMed ID: 10612503
    [Abstract] [Full Text] [Related]

  • 9. 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 Dec; 40(2):105-8. PubMed ID: 18259096
    [Abstract] [Full Text] [Related]

  • 10. Corneal dystrophies in Japan.
    Fujiki K, Nakayasu K, Kanai A.
    J Hum Genet; 2001 Dec; 46(8):431-5. PubMed ID: 11501939
    [Abstract] [Full Text] [Related]

  • 11. Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.
    Lisch W, Büttner A, Oeffner F, Böddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K.
    Am J Ophthalmol; 2000 Oct; 130(4):461-8. PubMed ID: 11024418
    [Abstract] [Full Text] [Related]

  • 12. 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. PubMed ID: 19019446
    [Abstract] [Full Text] [Related]

  • 13. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.
    Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP.
    Br J Ophthalmol; 2004 Jun; 88(6):752-6. PubMed ID: 15148206
    [Abstract] [Full Text] [Related]

  • 14. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.
    Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H.
    Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):420-6. PubMed ID: 15671264
    [Abstract] [Full Text] [Related]

  • 15. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.
    Hammar B, Björck E, Lagerstedt K, Dellby A, Fagerholm P.
    Acta Ophthalmol; 2008 Nov; 86(7):758-63. PubMed ID: 18778339
    [Abstract] [Full Text] [Related]

  • 16. 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. PubMed ID: 9727418
    [Abstract] [Full Text] [Related]

  • 17. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.
    Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G.
    Hum Mutat; 1999 Sep; 14(2):126-32. PubMed ID: 10425035
    [Abstract] [Full Text] [Related]

  • 18. Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
    Clausen I, Duncker GI, Grünauer-Kloevekorn C.
    Mol Vis; 2010 May 29; 16():954-60. PubMed ID: 20577595
    [Abstract] [Full Text] [Related]

  • 19. 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 29; 27(6):553-7. PubMed ID: 16652336
    [Abstract] [Full Text] [Related]

  • 20. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
    Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC.
    Mol Vis; 2007 Sep 17; 13():1695-700. PubMed ID: 17893671
    [Abstract] [Full Text] [Related]

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