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Volumn 152, Issue 2, 2010, Pages 413-416

FBN1 mutations in patients with descending thoracic aortic dissections

Author keywords

Aortic dissection; FBN1; Hypertension

Indexed keywords

FIBRILLIN 1;

EID: 75449093790     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32856     Document Type: Article
Times cited : (33)

References (12)
  • 1
    • 0032574641 scopus 로고    scopus 로고
    • Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)
    • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. 1998. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77:31-37.
    • (1998) Am J Med Genet , vol.77 , pp. 31-37
    • Beighton, P.1    De Paepe, A.2    Steinmann, B.3    Tsipouras, P.4    Wenstrup, R.J.5
  • 2
    • 0036893786 scopus 로고    scopus 로고
    • Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
    • Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. 2002. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 86:1359-1362.
    • (2002) Br J Ophthalmol , vol.86 , pp. 1359-1362
    • Comeglio, P.1    Evans, A.L.2    Brice, G.3    Cooling, R.J.4    Child, A.H.5
  • 4
    • 45249093677 scopus 로고    scopus 로고
    • Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. 2008. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: An international study of 1009 probands. J Med Genet 45:384-390.
    • Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. 2008. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: An international study of 1009 probands. J Med Genet 45:384-390.
  • 5
    • 0029001289 scopus 로고
    • A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection
    • Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H. 1995. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 56:1287-1296.
    • (1995) Am J Hum Genet , vol.56 , pp. 1287-1296
    • Francke, U.1    Berg, M.A.2    Tynan, K.3    Brenn, T.4    Liu, W.5    Aoyama, T.6    Gasner, C.7    Miller, D.C.8    Furthmayr, H.9
  • 6
    • 0024321925 scopus 로고
    • Association of mitral valve prolapse and systemic abnormalities of connective tissue: A phenotypic continuum
    • Glesby MJ, Pyeritz RE. 1989. Association of mitral valve prolapse and systemic abnormalities of connective tissue: A phenotypic continuum. JAMA 262:523-528.
    • (1989) JAMA , vol.262 , pp. 523-528
    • Glesby, M.J.1    Pyeritz, R.E.2
  • 8
    • 0028335388 scopus 로고
    • Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
    • Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. 1994. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6:64-69.
    • (1994) Nat Genet , vol.6 , pp. 64-69
    • Kainulainen, K.1    Karttunen, L.2    Puhakka, L.3    Sakai, L.4    Peltonen, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.