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    Results: 1 to 20 of 177

    1.

    A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

    Yao Z, Jaeger JC, Ruzzo WL, Morale CZ, Emond M, Francke U, Milewicz DM, Schwartz SM, Mulvihill ER.

    BMC Genomics. 2007 Sep 12;8:319.PMID: 17850668 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

    Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA.

    Hum Mol Genet. 2003 Sep 15;12(18):2269-76. Epub 2003 Jul 22.PMID: 12915484 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    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;12(2):137.PMID: 10694921 [PubMed - indexed for MEDLINE]Related articles

    4.

    Overexpression of transforming growth factor-beta is associated with increased hyaluronan content and impairment of repair in Marfan syndrome aortic aneurysm.

    Nataatmadja M, West J, West M.

    Circulation. 2006 Jul 4;114(1 Suppl):I371-7.PMID: 16820603 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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;95(2):874-80.PMID: 7860770 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    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;6(5):392-403.PMID: 8743989 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

    Milewicz DM, Pyeritz RE, Crawford ES, Byers PH.

    J Clin Invest. 1992 Jan;89(1):79-86.PMID: 1729284 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    From fluorescence to the gene: the skin in the Marfan syndrome.

    Godfrey M.

    J Invest Dermatol. 1994 Nov;103(5 Suppl):58S-62S. Review.PMID: 7963686 [PubMed - indexed for MEDLINE]Related articles

    9.

    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;94(1):130-7.PMID: 8040255 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor.

    Holterhus PM, Hiort O, Demeter J, Brown PO, Brooks JD.

    Genome Biol. 2003;4(6):R37. Epub 2003 May 15.PMID: 12801411 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome.

    Schaefer GB, Godfrey M.

    Clin Genet. 1995 Mar;47(3):144-9.PMID: 7634537 [PubMed - indexed for MEDLINE]Related articles

    12.

    Affected and non-affected skin fibroblasts from systemic sclerosis patients share a gene expression profile deviated from the one observed in healthy individuals.

    Fuzii HT, Yoshikawa GT, Junta CM, Sandrin-Garcia P, Fachin AL, Sakamoto-Hojo ET, Donadi EA, Passos GA, Andrade LE.

    Clin Exp Rheumatol. 2008 Sep-Oct;26(5):866-74.PMID: 19032821 [PubMed - indexed for MEDLINE]Related articles

    13.

    Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

    Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.

    Am J Hum Genet. 2002 Aug;71(2):223-37. Epub 2002 Jun 14.PMID: 12068374 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.

    Uyeda T, Takahashi T, Eto S, Sato T, Xu G, Kanezaki R, Toki T, Yonesaka S, Ito E.

    J Hum Genet. 2004;49(8):404-7. Epub 2004 Jun 23.PMID: 15221638 [PubMed - indexed for MEDLINE]Related articles

    15.

    RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.

    Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN.

    Hum Genet. 2005 Jan;116(1-2):51-61. Epub 2004 Oct 23.PMID: 15517394 [PubMed - indexed for MEDLINE]Related articles

    16.

    Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.

    Gao LG, Luo F, Hui RT, Zhou XL.

    Ageing Res Rev. 2009 Sep 17. [Epub ahead of print]PMID: 19772952 [PubMed - as supplied by publisher]Related articles

    17.

    Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

    Baumgartner C, Mátyás G, Steinmann B, Baumgartner D.

    Methods Inf Med. 2005;44(4):487-97.PMID: 16342915 [PubMed - indexed for MEDLINE]Related articles

    18.

    Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

    Godfrey M, Raghunath M, Cisler J, Bevins CL, DePaepe A, Di Rocco M, Gregoritch J, Imaizumi K, Kaplan P, Kuroki Y, et al.

    Am J Pathol. 1995 Jun;146(6):1414-21.PMID: 7778680 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Expression of somatic DNA repair genes in human testes.

    Galetzka D, Weis E, Kohlschmidt N, Bitz O, Stein R, Haaf T.

    J Cell Biochem. 2007 Apr 1;100(5):1232-9.PMID: 17177185 [PubMed - indexed for MEDLINE]Related articles

    20.

    Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome.

    Pulkkinen L, Kainulainen K, Krusius T, Mäkinen P, Schollin J, Gustavsson KH, Peltonen L.

    J Biol Chem. 1990 Oct 15;265(29):17780-5.PMID: 2211661 [PubMed - indexed for MEDLINE]Related articlesFree article

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