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402 related items for PubMed ID: 18778339

  • 1. 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]

  • 2. Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.
    Hammar B, Björck E, Lind H, Lagerstedt K, Dellby A, Fagerholm P.
    Acta Ophthalmol; 2009 Sep; 87(6):659-65. PubMed ID: 18700883
    [Abstract] [Full Text] [Related]

  • 3. Franceschetti hereditary recurrent corneal erosion.
    Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C.
    Am J Ophthalmol; 2012 Jun; 153(6):1073-81.e4. PubMed ID: 22402249
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Three autosomal dominant corneal dystrophies map to chromosome 5q.
    Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM.
    Nat Genet; 1994 Jan; 6(1):47-51. PubMed ID: 8136834
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.
    Colville D, Wang YY, Jamieson R, Collins F, Hood J, Savige J.
    Ophthalmic Genet; 2000 Dec 17; 21(4):217-25. PubMed ID: 11135492
    [Abstract] [Full Text] [Related]

  • 8. [Clinical appearance of corneal lattice-type dystrophy (author's transl)].
    Lisch W.
    Klin Monbl Augenheilkd; 1980 Sep 17; 177(3):284-91. PubMed ID: 7005516
    [Abstract] [Full Text] [Related]

  • 9. [Epithelial corneal basement membrane dystrophy].
    Lisch W, Lisch C.
    Klin Monbl Augenheilkd; 1983 Oct 17; 183(4):251-5. PubMed ID: 6606071
    [Abstract] [Full Text] [Related]

  • 10. [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 17; 217(1):43-51. PubMed ID: 10949816
    [Abstract] [Full Text] [Related]

  • 11. Dystrophia Helsinglandica--corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes.
    Neira W, Hammar B, Holopainen JM, Tuisku I, Dellby A, Tervo T, Fagerholm P.
    Acta Ophthalmol; 2010 Jun 17; 88(4):401-6. PubMed ID: 20597871
    [Abstract] [Full Text] [Related]

  • 12. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene.
    Eifrig DE, Afshari NA, Buchanan HW, Bowling BL, Klintworth GK.
    Ophthalmology; 2004 Jun 17; 111(6):1108-14. PubMed ID: 15177960
    [Abstract] [Full Text] [Related]

  • 13. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
    Zhao XC, Nakamura H, Subramanyam S, Stock LE, Gillette TE, Yoshikawa S, Ma X, Yee RW.
    Ophthalmology; 2007 Nov 17; 114(11):e39-46. PubMed ID: 17980739
    [Abstract] [Full Text] [Related]

  • 14. A new, X-linked endothelial corneal dystrophy.
    Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR.
    Am J Ophthalmol; 2006 Mar 17; 141(3):478-487. PubMed ID: 16490493
    [Abstract] [Full Text] [Related]

  • 15. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24.
    Yee RW, Sullivan LS, Lai HT, Stock EL, Lu Y, Khan MN, Blanton SH, Daiger SP.
    Genomics; 1997 Nov 15; 46(1):152-4. PubMed ID: 9403072
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 27(6):553-7. PubMed ID: 16652336
    [Abstract] [Full Text] [Related]

  • 17. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
    Zenteno JC, Ramirez-Miranda A, Santacruz-Valdes C, Suarez-Sanchez R.
    Mol Vis; 2006 Apr 10; 12():331-5. PubMed ID: 16636649
    [Abstract] [Full Text] [Related]

  • 18. Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.
    Vincent AL, Markie DM, De Karolyi B, Wheeldon CE, Patel DV, Grupcheva CN, McGhee CN.
    Mol Vis; 2009 Aug 26; 15():1700-8. PubMed ID: 19710953
    [Abstract] [Full Text] [Related]

  • 19. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.
    Zenteno JC, Correa-Gomez V, Santacruz-Valdez C, Suarez-Sanchez R, Villanueva-Mendoza C.
    Exp Eye Res; 2009 Aug 26; 89(2):172-7. PubMed ID: 19303004
    [Abstract] [Full Text] [Related]

  • 20. Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions.
    Hammar B, Lagali N, Ek S, Seregard S, Dellby A, Fagerholm P.
    Acta Ophthalmol; 2010 Jun 26; 88(4):394-400. PubMed ID: 19681763
    [Abstract] [Full Text] [Related]

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