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102 related items for PubMed ID: 15234146

  • 1. The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies.
    Aldave AJ, Yellore VS, Self CA, Holsclaw D, Small K.
    Ophthalmology; 2004 Jul; 111(7):1407-9. PubMed ID: 15234146
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 15885785
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  • 3. 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. PubMed ID: 15531312
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  • 4. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
    Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA.
    Ophthalmology; 1999 May; 106(5):964-70. PubMed ID: 10328397
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  • 5. Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions.
    Aldave AJ, Lin DY, Principe AH, Yellore VS, Weissman BA.
    Am J Ophthalmol; 2004 Jun; 137(6):1124-7. PubMed ID: 15183802
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  • 6. 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; 114(11):e39-46. PubMed ID: 17980739
    [Abstract] [Full Text] [Related]

  • 7. 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; 111(6):1108-14. PubMed ID: 15177960
    [Abstract] [Full Text] [Related]

  • 8. A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy.
    Aldave AJ, Sonmez B, Forstot SL, Rayner SA, Yellore VS, Glasgow BJ.
    Am J Ophthalmol; 2007 Mar; 143(3):416-9. PubMed ID: 17317389
    [Abstract] [Full Text] [Related]

  • 9. TGFBI gene mutations in Brazilian patients with corneal dystrophy.
    Solari HP, Ventura MP, Perez AB, Sallum JM, Burnier MN, Belfort R.
    Eye (Lond); 2007 May; 21(5):587-90. PubMed ID: 16440005
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  • 11. 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
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  • 13. No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition.
    Aldave AJ, Rayner SA, King JA, Salem AK, Prechanond A, Hashida S, Affeldt JC, Meallet MA, Glasgow BJ, Small KW, Yellore VS.
    Cornea; 2006 May 17; 25(4):413-5. PubMed ID: 16670477
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  • 14. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
    Vincent AL, de Karolyi B, Patel DV, Wheeldon CE, McGhee CN.
    Br J Ophthalmol; 2010 Jul 17; 94(7):836-42. PubMed ID: 19948560
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  • 15. Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis.
    Yoshida S, Yoshida A, Nakao S, Emori A, Nakamura T, Fujisawa K, Kumano Y, Ishibashi T.
    Am J Ophthalmol; 2004 Mar 17; 137(3):586-8. PubMed ID: 15013897
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  • 17. 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 17; 27(6):553-7. PubMed ID: 16652336
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  • 18. 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 17; 46(1):121-5. PubMed ID: 15623763
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  • 19. [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 17; 222(12):1017-23. PubMed ID: 16380889
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 116(1):46-51. PubMed ID: 19019446
    [Abstract] [Full Text] [Related]

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