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Journal Abstract Search

144 related items for PubMed ID: 9152224

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.
    Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
    [Abstract] [Full Text] [Related]

  • 23. A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.
    Tabata Y, Isashiki Y, Kamimura K, Nakao K, Ohba N.
    Hum Genet; 1998 Aug; 103(2):179-82. PubMed ID: 9760202
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  • 24. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.
    Edwards AO, Donoso LA, Ritter R.
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2652-63. PubMed ID: 11581213
    [Abstract] [Full Text] [Related]

  • 25. Age-related macular degeneration: a perspective on genetic studies.
    Patel N, Adewoyin T, Chong NV.
    Eye (Lond); 2008 Jun; 22(6):768-76. PubMed ID: 17491602
    [Abstract] [Full Text] [Related]

  • 26. A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.
    Schoenberger SD, Agarwal A.
    Retina; 2013 Feb; 33(2):429-35. PubMed ID: 23023527
    [Abstract] [Full Text] [Related]

  • 27. Status of the DPC4 tumor suppressor gene in sporadic colon adenocarcinoma of Croatian patients: identification of a novel somatic mutation.
    Popović Hadzija M, Radosevic S, Kovacević D, Lukac J, Hadzija M, Spaventi R, Pavelić K, Kapitanović S.
    Mutat Res; 2004 Apr 14; 548(1-2):61-73. PubMed ID: 15063137
    [Abstract] [Full Text] [Related]

  • 28. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
    [Abstract] [Full Text] [Related]

  • 29. TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy.
    Chong NH, Alexander RA, Gin T, Bird AC, Luthert PJ.
    Invest Ophthalmol Vis Sci; 2000 Mar 02; 41(3):898-902. PubMed ID: 10711711
    [Abstract] [Full Text] [Related]

  • 30. [Sorsby's fundus dystrophy. A genetically homogeneous disease].
    Felbor U, Weber BH.
    Ophthalmologe; 1998 May 02; 95(5):287-90. PubMed ID: 9643018
    [Abstract] [Full Text] [Related]

  • 31. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
    Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 May 02; 41(6):1291-6. PubMed ID: 10798642
    [Abstract] [Full Text] [Related]

  • 32. 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 02; 41(6):1302-8. PubMed ID: 10798644
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  • 35. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).
    Hugosson T, Gränse L, Ponjavic V, Andréasson S.
    Ophthalmic Genet; 2009 Mar 02; 30(1):1-6. PubMed ID: 19172503
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  • 36. Measurement of TIMP-3 expression and Bruch's membrane thickness in human macula.
    Bailey TA, Alexander RA, Dubovy SR, Luthert PJ, Chong NH.
    Exp Eye Res; 2001 Dec 02; 73(6):851-8. PubMed ID: 11846515
    [Abstract] [Full Text] [Related]

  • 37. Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration?
    Tymms MJ.
    Clin Exp Optom; 1999 Dec 02; 82(4):124-129. PubMed ID: 12482286
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  • 40. Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3).
    Stöhr H, Roomp K, Felbor U, Weber BH.
    Genome Res; 1995 Dec 02; 5(5):483-7. PubMed ID: 8808469
    [Abstract] [Full Text] [Related]

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