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Journal Abstract Search

232 related items for PubMed ID: 8791520

  • 1. Fibrillln mutations in Marfan syndrome and related phenotypes.
    Ramirez F.
    Curr Opin Genet Dev; 1996 Jun; 6(3):309-15. PubMed ID: 8791520
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.
    Dietz HC, Pyeritz RE.
    Hum Mol Genet; 1995 Jun; 4 Spec No():1799-809. PubMed ID: 8541880
    [Abstract] [Full Text] [Related]

  • 3. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
    Belleh S, Zhou G, Wang M, Der Kaloustian VM, Pagon RA, Godfrey M.
    Am J Med Genet; 2000 May 01; 92(1):7-12. PubMed ID: 10797416
    [Abstract] [Full Text] [Related]

  • 4. The molecular genetics of Marfan syndrome and related microfibrillopathies.
    Robinson PN, Godfrey M.
    J Med Genet; 2000 Jan 01; 37(1):9-25. PubMed ID: 10633129
    [Abstract] [Full Text] [Related]

  • 5. 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 Jan 01; 765():7-18. PubMed ID: 26281765
    [Abstract] [Full Text] [Related]

  • 6. Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.
    Furthmayr H, Francke U.
    Semin Thorac Cardiovasc Surg; 1997 Jul 01; 9(3):191-205. PubMed ID: 9263339
    [Abstract] [Full Text] [Related]

  • 7. The fibrillins.
    Ramirez F, Pereira L.
    Int J Biochem Cell Biol; 1999 Feb 01; 31(2):255-9. PubMed ID: 10216958
    [Abstract] [Full Text] [Related]

  • 8. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.
    Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM.
    J Med Genet; 2004 May 01; 41(5):e56. PubMed ID: 15121784
    [No Abstract] [Full Text] [Related]

  • 9. Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events.
    Ramirez F, Dietz HC.
    J Cell Physiol; 2007 Nov 01; 213(2):326-30. PubMed ID: 17708531
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 11(4):456-8. PubMed ID: 7493032
    [Abstract] [Full Text] [Related]

  • 11. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
    Hayward C, Brock DJ.
    Hum Mutat; 1997 Dec 01; 10(6):415-23. PubMed ID: 9401003
    [Abstract] [Full Text] [Related]

  • 12. The fibrillin-Marfan syndrome connection.
    Ramirez F, Pereira L, Zhang H, Lee B.
    Bioessays; 1993 Sep 01; 15(9):589-94. PubMed ID: 8240311
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic associations in Marfan syndrome and related disorders.
    Ramirez F, Lee B, Vitale E.
    Mt Sinai J Med; 1992 Sep 01; 59(4):350-6. PubMed ID: 1406753
    [Abstract] [Full Text] [Related]

  • 14. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
    Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H.
    Hum Mol Genet; 1993 Dec 01; 2(12):2135-40. PubMed ID: 8111384
    [Abstract] [Full Text] [Related]

  • 15. Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts.
    Kielty CM, Phillips JE, Child AH, Pope FM, Shuttleworth CA.
    Matrix Biol; 1994 Mar 01; 14(2):191-9. PubMed ID: 8061930
    [Abstract] [Full Text] [Related]

  • 16. Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome.
    Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, Colley A, Adès LC.
    Am J Med Genet A; 2005 Nov 15; 139(1):2-8. PubMed ID: 16222666
    [Abstract] [Full Text] [Related]

  • 17. Marfan syndrome and its disorder in periodontal tissues.
    Suda N, Shiga M, Ganburged G, Moriyama K.
    J Exp Zool B Mol Dev Evol; 2009 Jul 15; 312B(5):503-9. PubMed ID: 19199346
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 19. Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome.
    Kielty CM, Shuttleworth CA.
    J Cell Biol; 1994 Mar 06; 124(6):997-1004. PubMed ID: 8132720
    [Abstract] [Full Text] [Related]

  • 20. Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.
    Yagi H, Hatano M, Takeda N, Harada S, Suzuki Y, Taniguchi Y, Shintani Y, Morita H, Kanamori N, Aoyama T, Watanabe M, Manabe I, Akazawa H, Kinugawa K, Komuro I.
    Intern Med; 2015 Mar 06; 54(10):1237-41. PubMed ID: 25986263
    [Abstract] [Full Text] [Related]

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