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Journal Abstract Search

614 related items for PubMed ID: 8541880

  • 1. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.
    Dietz HC, Pyeritz RE.
    Hum Mol Genet; 1995; 4 Spec No():1799-809. PubMed ID: 8541880
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  • 2. The molecular genetics of Marfan syndrome and related microfibrillopathies.
    Robinson PN, Godfrey M.
    J Med Genet; 2000 Jan; 37(1):9-25. PubMed ID: 10633129
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  • 3. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.
    Putnam EA, Zhang H, Ramirez F, Milewicz DM.
    Nat Genet; 1995 Dec; 11(4):456-8. PubMed ID: 7493032
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  • 4. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.
    Chaudhry SS, Gazzard J, Baldock C, Dixon J, Rock MJ, Skinner GC, Steel KP, Kielty CM, Dixon MJ.
    Hum Mol Genet; 2001 Apr 01; 10(8):835-43. PubMed ID: 11285249
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  • 5. Fibrillln mutations in Marfan syndrome and related phenotypes.
    Ramirez F.
    Curr Opin Genet Dev; 1996 Jun 01; 6(3):309-15. PubMed ID: 8791520
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  • 7. Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
    Zeyer KA, Reinhardt DP.
    Mutat Res Rev Mutat Res; 2015 Jun 01; 765():7-18. PubMed ID: 26281765
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  • 8. New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
    Jensen SA, Handford PA.
    Biochem J; 2016 Apr 01; 473(7):827-38. PubMed ID: 27026396
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  • 9. Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.
    Davis MR, Summers KM.
    Mol Genet Metab; 2012 Dec 01; 107(4):635-47. PubMed ID: 22921888
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  • 10. Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.
    Li X, Pereira L, Zhang H, Sanguineti C, Ramirez F, Bonadio J, Francke U.
    Genomics; 1993 Dec 01; 18(3):667-72. PubMed ID: 8307578
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  • 12. Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.
    Milewicz DM.
    Tex Heart Inst J; 1994 Dec 01; 21(1):22-9. PubMed ID: 8180508
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  • 13. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome.
    Beene LC, Wang LW, Hubmacher D, Keene DR, Reinhardt DP, Annis DS, Mosher DF, Mecham RP, Traboulsi EI, Apte SS.
    Invest Ophthalmol Vis Sci; 2013 Dec 23; 54(13):8337-44. PubMed ID: 24265020
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  • 17. Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome.
    Goldstein C, Liaw P, Jimenez SA, Buchberg AM, Siracusa LD.
    Mamm Genome; 1994 Nov 23; 5(11):696-700. PubMed ID: 7873879
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  • 18. In vivo studies of mutant fibrillin-1 microfibrils.
    Charbonneau NL, Carlson EJ, Tufa S, Sengle G, Manalo EC, Carlberg VM, Ramirez F, Keene DR, Sakai LY.
    J Biol Chem; 2010 Aug 06; 285(32):24943-55. PubMed ID: 20529844
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  • 19. The fibrillins.
    Ramirez F, Pereira L.
    Int J Biochem Cell Biol; 1999 Feb 06; 31(2):255-9. PubMed ID: 10216958
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