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378 related items for PubMed ID: 8533811

  • 1. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
    Aoyama T, Francke U, Gasner C, Furthmayr H.
    Am J Med Genet; 1995 Aug 28; 58(2):169-76. PubMed ID: 8533811
    [Abstract] [Full Text] [Related]

  • 2. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
    Hayward C, Brock DJ.
    Hum Mutat; 1997 Aug 28; 10(6):415-23. PubMed ID: 9401003
    [Abstract] [Full Text] [Related]

  • 3. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
    Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T.
    Hum Mutat; 2002 Sep 28; 20(3):153-61. PubMed ID: 12203987
    [Abstract] [Full Text] [Related]

  • 4. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
    Liu WO, Oefner PJ, Qian C, Odom RS, Francke U.
    Genet Test; 2002 Sep 28; 1(4):237-42. PubMed ID: 10464652
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  • 6. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
    Aoyama T, Francke U, Dietz HC, Furthmayr H.
    J Clin Invest; 1994 Jul 28; 94(1):130-7. PubMed ID: 8040255
    [Abstract] [Full Text] [Related]

  • 7. Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene.
    Bergman R, Nevet MJ, Gescheidt-Shoshany H, Pimienta AL, Reinstein E.
    JAMA Dermatol; 2014 Aug 28; 150(8):885-9. PubMed ID: 24740214
    [Abstract] [Full Text] [Related]

  • 8. 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 Aug 28; 21(1):22-9. PubMed ID: 8180508
    [Abstract] [Full Text] [Related]

  • 9. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
    De Backer J.
    Verh K Acad Geneeskd Belg; 2009 Aug 28; 71(6):335-71. PubMed ID: 20232788
    [Abstract] [Full Text] [Related]

  • 10. Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.
    Milewicz DM.
    Curr Opin Cardiol; 1998 May 28; 13(3):198-204. PubMed ID: 9649943
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 9(3):191-205. PubMed ID: 9263339
    [Abstract] [Full Text] [Related]

  • 12. 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 28; 11(4):456-8. PubMed ID: 7493032
    [Abstract] [Full Text] [Related]

  • 13. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
    Eldadah ZA, Brenn T, Furthmayr H, Dietz HC.
    J Clin Invest; 1995 Feb 28; 95(2):874-80. PubMed ID: 7860770
    [Abstract] [Full Text] [Related]

  • 14. The molecular genetics of Marfan syndrome and related microfibrillopathies.
    Robinson PN, Godfrey M.
    J Med Genet; 2000 Jan 28; 37(1):9-25. PubMed ID: 10633129
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.
    Grau U, Klein HG, Detter C, Mair H, Welz A, Seidel D, Reichart B.
    Hum Mutat; 1998 Jan 28; 12(2):137. PubMed ID: 10694921
    [Abstract] [Full Text] [Related]

  • 16. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
    Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW.
    Nature; 1991 Jul 25; 352(6333):330-4. PubMed ID: 1852206
    [Abstract] [Full Text] [Related]

  • 17. Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.
    Loeys BL, Matthys DM, de Paepe AM.
    Acta Clin Belg; 2003 Jul 25; 58(1):3-11. PubMed ID: 12723256
    [Abstract] [Full Text] [Related]

  • 18. An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
    Karttunen L, Lönnqvist L, Godfrey M, Peltonen L, Syvänen AC.
    Genome Res; 1996 May 25; 6(5):392-403. PubMed ID: 8743989
    [Abstract] [Full Text] [Related]

  • 19. Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy.
    Schrijver I, Schievink WI, Godfrey M, Meyer FB, Francke U.
    J Neurosurg; 2002 Mar 25; 96(3):483-9. PubMed ID: 11883832
    [Abstract] [Full Text] [Related]

  • 20. Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
    Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S.
    J Hum Genet; 2000 Mar 25; 45(2):115-8. PubMed ID: 10721679
    [Abstract] [Full Text] [Related]

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