메뉴 건너뛰기




Volumn 197, Issue 9, 2012, Pages 494-497

Recent developments in the diagnosis of Marfan syndrome and related disorders

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA;

EID: 84874405496     PISSN: 0025729X     EISSN: 13265377     Source Type: Journal    
DOI: 10.5694/mja12.10560     Document Type: Article
Times cited : (13)

References (22)
  • 1
    • 33745445203 scopus 로고    scopus 로고
    • Challenges in the diagnosis of Marfan syndrome
    • Summers KM, West JA, Peterson MM, et al. Challenges in the diagnosis of Marfan syndrome. Med J Aust 2006; 184: 627-631.
    • (2006) Med J Aust , vol.184 , pp. 627-631
    • Summers, K.M.1    West, J.A.2    Peterson, M.M.3
  • 2
    • 0029971236 scopus 로고    scopus 로고
    • Revised diagnostic criteria for the Marfan syndrome
    • De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417-426.
    • (1996) Am J Med Genet , vol.62 , pp. 417-426
    • De Paepe, A.1    Devereux, R.B.2    Dietz, H.C.3
  • 3
    • 77956127537 scopus 로고    scopus 로고
    • The revised Ghent nosology for the Marfan syndrome
    • Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476-485.
    • (2010) J Med Genet , vol.47 , pp. 476-485
    • Loeys, B.L.1    Dietz, H.C.2    Braverman, A.C.3
  • 4
    • 84856106408 scopus 로고    scopus 로고
    • The new Ghent criteria for Marfan syndrome: What do they change?
    • Faivre L, Collod-Beroud G, Adès L, et al. The new Ghent criteria for Marfan syndrome: what do they change? Clin Genet 2012; 81: 433-442.
    • (2012) Clin Genet , vol.81 , pp. 433-442
    • Faivre, L.1    Collod-Beroud, G.2    Adès, L.3
  • 5
    • 0024396654 scopus 로고
    • Two-dimensional echocardiographic aortic root dimensions in normal children and adults
    • Roman MJ, Devereux RB, Kramer-Fox R, O’Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989; 64: 507-512.
    • (1989) Am J Cardiol , vol.64 , pp. 507-512
    • Roman, M.J.1    Devereux, R.B.2    Kramer-Fox, R.3    O’Loughlin, J.4
  • 6
    • 77955297956 scopus 로고    scopus 로고
    • In vivo studies of mutant fibrillin-1 microfibrils
    • Charbonneau NL, Carlson EJ, Tufa S, et al. In vivo studies of mutant fibrillin-1 microfibrils. J Biol Chem 2010; 285: 24943-24955.
    • (2010) J Biol Chem , vol.285 , pp. 24943-24955
    • Charbonneau, N.L.1    Carlson, E.J.2    Tufa, S.3
  • 7
    • 0037373277 scopus 로고    scopus 로고
    • Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome
    • Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33: 407-411.
    • (2003) Nat Genet , vol.33 , pp. 407-411
    • Neptune, E.R.1    Frischmeyer, P.A.2    Arking, D.E.3
  • 8
    • 20144367207 scopus 로고    scopus 로고
    • A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    • Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275-281.
    • (2005) Nat Genet , vol.37 , pp. 275-281
    • Loeys, B.L.1    Chen, J.2    Neptune, E.R.3
  • 9
    • 33645672459 scopus 로고    scopus 로고
    • Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
    • Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117-121.
    • (2006) Science , vol.312 , pp. 117-121
    • Habashi, J.P.1    Judge, D.P.2    Holm, T.M.3
  • 10
    • 78649472965 scopus 로고    scopus 로고
    • Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome
    • Nistala H, Lee-Arteaga S, Carta L, et al. Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome. Hum Mol Genet 2010; 19: 4790-4798.
    • (2010) Hum Mol Genet , vol.19 , pp. 4790-4798
    • Nistala, H.1    Lee-Arteaga, S.2    Carta, L.3
  • 11
    • 84869883255 scopus 로고    scopus 로고
    • Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases
    • Aug 3. [Epub ahead of print.]
    • Davis MR, Summers KM. Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases. Mol Genet Metab 2012; Aug 3. [Epub ahead of print.]
    • (2012) Mol Genet Metab
    • Davis, M.R.1    Summers, K.M.2
  • 12
    • 0037438497 scopus 로고    scopus 로고
    • Long-term outcome in patients with Marfan syndrome: Is aortic dissection the only cause of sudden death?
    • Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol 2003; 41: 329-332.
    • (2003) J Am Coll Cardiol , vol.41 , pp. 329-332
    • Yetman, A.T.1    Bornemeier, R.A.2    McCrindle, B.W.3
  • 13
    • 79952259734 scopus 로고    scopus 로고
    • Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing
    • Bowne SJ, Sullivan LS, Koboldt DC, et al. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci 2011; 52: 494-503.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 494-503
    • Bowne, S.J.1    Sullivan, L.S.2    Koboldt, D.C.3
  • 14
    • 79955708249 scopus 로고    scopus 로고
    • Comparison of three targeted enrichment strategies on the SOLiD sequencing platform
    • Hedges DJ, Guettouche T, Yang S, et al. Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. PLoS One 2011; 6: e18595.
    • (2011) PLoS One , vol.6 , pp. e18595
    • Hedges, D.J.1    Guettouche, T.2    Yang, S.3
  • 15
    • 79953825909 scopus 로고    scopus 로고
    • Revisiting Mendelian disorders through exome sequencing
    • Ku CS, Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet 2011; 129: 351-370.
    • (2011) Hum Genet , vol.129 , pp. 351-370
    • Ku, C.S.1    Naidoo, N.2    Pawitan, Y.3
  • 16
    • 79951805438 scopus 로고    scopus 로고
    • Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: Opportunities, challenges, and limitations
    • De Leeneer K, Hellemans J, De Schrijver J, et al. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat 2011; 32: 335-344.
    • (2011) Hum Mutat , vol.32 , pp. 335-344
    • De Leeneer, K.1    Hellemans, J.2    De Schrijver, J.3
  • 17
    • 59449108914 scopus 로고    scopus 로고
    • Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
    • Faivre L, Masurel-Paulet A, Collod-Béroud G, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009; 123: 391-398.
    • (2009) Pediatrics , vol.123 , pp. 391-398
    • Faivre, L.1    Masurel-Paulet, A.2    Collod-Béroud, G.3
  • 18
    • 80051699863 scopus 로고    scopus 로고
    • Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
    • Baetens M, Van Laer L, De Leeneer K, et al. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. Hum Mutat 2011; 32: 1053-1062.
    • (2011) Hum Mutat , vol.32 , pp. 1053-1062
    • Baetens, M.1    Van Laer, L.2    De Leeneer, K.3
  • 19
    • 78751570979 scopus 로고    scopus 로고
    • RNA sequencing: Advances, challenges and opportunities
    • Ozsolak F, Milos PM. RNA sequencing: advances, challenges and opportunities. Nat Rev Genet 2011; 12: 87-98.
    • (2011) Nat Rev Genet , vol.12 , pp. 87-98
    • Ozsolak, F.1    Milos, P.M.2
  • 21
    • 15744396884 scopus 로고    scopus 로고
    • [Online database], (accessed May 2012)
    • NCBI, GeneTests. Marfan syndrome. [Online database] http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/2104?db=genetests (accessed May 2012).
    • Marfan syndrome
  • 22
    • 1642477807 scopus 로고    scopus 로고
    • An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family
    • Summers KM, Xu D, West JA, et al. An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family. Clin Genet 2004; 65: 66-69.
    • (2004) Clin Genet , vol.65 , pp. 66-69
    • Summers, K.M.1    Xu, D.2    West, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.