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Volumn 123, Issue 11, 2013, Pages 646-648

First report of the genetic background of Marfan syndrome in Polish patients

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AORTA ANEURYSM; CASE REPORT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; LETTER; MALE; MARFAN SYNDROME; MITRAL VALVE REGURGITATION; PHENOTYPE; POLAND; SCOLIOSIS; YOUNG ADULT; CHILD; GENETICS; PEDIGREE;

EID: 84891877806     PISSN: 00323772     EISSN: 18979483     Source Type: Journal    
DOI: 10.20452/pamw.1986     Document Type: Letter
Times cited : (5)

References (12)
  • 1
    • 34249688228 scopus 로고    scopus 로고
    • Marfan syndrome: From molecular pathogenesis to clinical treatment
    • Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev. 2007; 3: 252-258.
    • (2007) Curr Opin Genet Dev , vol.3 , pp. 252-258
    • Ramirez, F.1    Dietz, H.C.2
  • 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; 4: 417-426.
    • (1996) Am J Med Genet , vol.4 , 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; 7: 476-485.
    • (2010) J Med Genet , vol.7 , pp. 476-485
    • Loeys, B.L.1    Dietz, H.C.2    Braverman, A.C.3
  • 4
    • 0026020269 scopus 로고
    • The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3
    • Dietz HC, Pyeritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics. 1991; 2: 355-361.
    • (1991) Genomics , vol.2 , pp. 355-361
    • Dietz, H.C.1    Pyeritz, R.E.2    Hall, B.D.3
  • 5
    • 77953443745 scopus 로고    scopus 로고
    • 2006 Curt Stern Award Address. Marfan syndrome: From molecules to medicines
    • Dietz HC. 2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines. Am J Hum Genet. 2007; 4: 662-667.
    • (2007) Am J Hum Genet , vol.4 , pp. 662-667
    • Dietz, H.C.1
  • 6
    • 34548133577 scopus 로고    scopus 로고
    • Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
    • De Backer J, Loeys B, Leroy B, et al. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007; 3: 188-198.
    • (2007) Clin Genet , vol.3 , pp. 188-198
    • De Backer, J.1    Loeys, B.2    Leroy, B.3
  • 7
    • 70350540773 scopus 로고    scopus 로고
    • Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
    • Hung CC, Lin SY, Lee CN, et al. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. Ann Hum Genet. 2009; 6: 559-567.
    • (2009) Ann Hum Genet , vol.6 , pp. 559-567
    • Hung, C.C.1    Lin, S.Y.2    Lee, C.N.3
  • 8
    • 4043070821 scopus 로고    scopus 로고
    • Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
    • Judge DP, Biery NJ, Keene DR, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004; 2: 172-181.
    • (2004) J Clin Invest , vol.2 , pp. 172-181
    • Judge, D.P.1    Biery, N.J.2    Keene, D.R.3
  • 9
    • 0028831359 scopus 로고
    • Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype
    • Eldadah ZA, Brenn T, Furthmayr H, Dietz HC. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J Clin Invest. 1995; 2: 874-880.
    • (1995) J Clin Invest , vol.2 , pp. 874-880
    • Eldadah, Z.A.1    Brenn, T.2    Furthmayr, H.3    Dietz, H.C.4
  • 10
    • 0036071270 scopus 로고    scopus 로고
    • Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes
    • Schrijver I, Liu W, Odom R, et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet. 2002; 2: 223-237.
    • (2002) Am J Hum Genet , vol.2 , pp. 223-237
    • Schrijver, I.1    Liu, W.2    Odom, R.3
  • 11
    • 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; 32: 24943-24955.
    • (2010) J Biol Chem , vol.32 , pp. 24943-24955
    • Charbonneau, N.L.1    Carlson, E.J.2    Tufa, S.3
  • 12
    • 0037462678 scopus 로고    scopus 로고
    • Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
    • Isogai Z, Ono RN, Ushiro S, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003; 4: 2750-2757.
    • (2003) J Biol Chem , vol.4 , pp. 2750-2757
    • Isogai, Z.1    Ono, R.N.2    Ushiro, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.