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Journal Abstract Search

769 related items for PubMed ID: 16571647

  • 1. The molecular genetics of Marfan syndrome and related disorders.
    Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.
    J Med Genet; 2006 Oct; 43(10):769-87. PubMed ID: 16571647
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  • 3. Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling.
    Wei H, Hu JH, Angelov SN, Fox K, Yan J, Enstrom R, Smith A, Dichek DA.
    J Am Heart Assoc; 2017 Jan 24; 6(1):. PubMed ID: 28119285
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  • 4. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
    Mizuguchi T, Matsumoto N.
    J Hum Genet; 2007 Jan 24; 52(1):1-12. PubMed ID: 17061023
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  • 5. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
    Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N.
    Am J Med Genet A; 2006 Aug 15; 140(16):1719-25. PubMed ID: 16835936
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  • 11. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
    Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B.
    Hum Mutat; 2006 Aug 15; 27(8):760-9. PubMed ID: 16791849
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  • 12. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
    Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE.
    Am J Med Genet A; 2013 Jan 15; 161A(1):185-91. PubMed ID: 23239472
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  • 13. Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice.
    Guo G, Muñoz-García B, Ott CE, Grünhagen J, Mousa SA, Pletschacher A, von Kodolitsch Y, Knaus P, Robinson PN.
    Hum Mol Genet; 2013 Feb 01; 22(3):433-43. PubMed ID: 23100322
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  • 14. Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome.
    Zilberberg L, Phoon CK, Robertson I, Dabovic B, Ramirez F, Rifkin DB.
    Proc Natl Acad Sci U S A; 2015 Nov 10; 112(45):14012-7. PubMed ID: 26494287
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  • 15. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
    Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G.
    Circulation; 2009 Dec 22; 120(25):2541-9. PubMed ID: 19996017
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  • 17. miR-29b participates in early aneurysm development in Marfan syndrome.
    Merk DR, Chin JT, Dake BA, Maegdefessel L, Miller MO, Kimura N, Tsao PS, Iosef C, Berry GJ, Mohr FW, Spin JM, Alvira CM, Robbins RC, Fischbein MP.
    Circ Res; 2012 Jan 20; 110(2):312-24. PubMed ID: 22116819
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