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Volumn 108, Issue 12, 2011, Pages 1801-1807

Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1;

EID: 82555166993     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2011.07.053     Document Type: Article
Times cited : (19)

References (22)
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    • Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
    • H.C. Dietz, and R.E. Pyeritz Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders Hum Mol Genet 4 1995 1799 1809
    • (1995) Hum Mol Genet , vol.4 , pp. 1799-1809
    • Dietz, H.C.1    Pyeritz, R.E.2
  • 10
    • 0024396654 scopus 로고
    • Two-dimensional echocardiographic aortic root dimensions in normal children and adults
    • DOI 10.1016/0002-9149(89)90430-X
    • M.J. Roman, R.B. Devereux, R. Kramer-Fox, and J. O'Loughlin Two-dimensional echocardiographic aortic root dimensions in normal children and adults Am J Cardiol 64 1989 507 512 (Pubitemid 19214582)
    • (1989) American Journal of Cardiology , vol.64 , Issue.8 , pp. 507-512
    • Roman, M.J.1    Devereux, R.B.2    Kramer-Fox, R.3    O'Loughlin, J.4
  • 15
    • 28844458691 scopus 로고    scopus 로고
    • Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome
    • DOI 10.1002/humu.20239
    • K. Rommel, M. Karck, A. Haverich, Y. von Kodolitsch, M. Rybczynski, G. Mller, K.K. Singh, J. Schmidtke, and M. Arslan-Kirchner Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome Hum Mutat 26 2005 529 539 (Pubitemid 41780475)
    • (2005) Human Mutation , vol.26 , Issue.6 , pp. 529-539
    • Rommel, K.1    Karck, M.2    Haverich, A.3    Von Kodolitsch, Y.4    Rybczynski, M.5    Muller, G.6    Singh, K.K.7    Schmidtke, J.8    Arslan-Kirchner, M.9
  • 16
    • 0031292158 scopus 로고    scopus 로고
    • Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in marfan syndrome and related connective tissue disorders
    • W.O. Liu, P.J. Oefner, C. Qian, R.S. Odom, and U. Francke Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders Genet Test 1 1997 237 242 (Pubitemid 128537147)
    • (1998) Genetic Testing , vol.1 , Issue.4 , pp. 237-242
    • Liu, W.-O.1    Oefner, P.J.2    Qian, C.3    Odom, R.S.4    Francke, U.5
  • 18
    • 3442886498 scopus 로고    scopus 로고
    • Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
    • DOI 10.1002/humu.20070
    • B. Loeys, J. De Backer, P. Van Acker, K. Wettinck, G. Pals, L. Nuytinck, P. Coucke, and A. De Paepe Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome Hum Mutat 24 2004 140 146 (Pubitemid 39006593)
    • (2004) Human Mutation , vol.24 , Issue.2 , pp. 140-146
    • Loeys, B.1    De Backer, J.2    Van Acker, P.3    Wettinck, K.4    Pals, G.5    Nuytinck, L.6    Coucke, P.7    De Paepe, A.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.