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Journal Abstract Search

355 related items for PubMed ID: 22772377

  • 1. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
    Wang WJ, Han P, Zheng J, Hu FY, Zhu Y, Xie JS, Guo J, Zhang Z, Dong J, Zheng GY, Cao H, Liu TS, Fu Q, Sun L, Yang BB, Tian XL.
    J Mol Med (Berl); 2013 Jan; 91(1):37-47. PubMed ID: 22772377
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  • 2. Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
    Waldmüller S, Müller M, Warnecke H, Rees W, Schöls W, Walterbusch G, Ennker J, Scheffold T.
    Eur J Cardiothorac Surg; 2007 Jun; 31(6):970-5. PubMed ID: 17418587
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  • 3. Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.
    Cao Y, Tan H, Li Z, Linpeng S, Long X, Liang D, Wu L.
    Int Heart J; 2018 Sep 26; 59(5):1059-1068. PubMed ID: 30101859
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  • 4. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
    Tran-Fadulu V, Pannu H, Kim DH, Vick GW, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.
    J Med Genet; 2009 Sep 26; 46(9):607-13. PubMed ID: 19542084
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  • 11. Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.
    Wang J, Yan Y, Chen J, Gong L, Zhang Y, Yuan M, Cui B, Wang Y.
    Mol Biol Rep; 2016 Nov 26; 43(11):1227-1232. PubMed ID: 27558095
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  • 12. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
    Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM.
    Am J Med Genet A; 2013 Sep 26; 161A(9):2305-10. PubMed ID: 23897642
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  • 14. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
    Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM.
    Circulation; 2005 Jul 26; 112(4):513-20. PubMed ID: 16027248
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  • 15. FBN1 mutations in patients with descending thoracic aortic dissections.
    Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW.
    Am J Med Genet A; 2010 Feb 26; 152A(2):413-6. PubMed ID: 20082464
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