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Volumn 29, Issue 1, 2008, Pages 172-175

Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22

Author keywords

Bilateral semilunar valve dysplasia; Inverted duplication; Trisomy 2p

Indexed keywords

ANGIOGRAPHY; AORTA STENOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DYSPLASIA; ELECTROCARDIOGRAM; FEMALE; GENE DUPLICATION; HEART CATHETERIZATION; HEART VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; SYSTOLIC HEART MURMUR; THORAX RADIOGRAPHY; TRISOMY; VALVULOPLASTY;

EID: 38349190483     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-007-9013-2     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0017855558 scopus 로고
    • Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation
    • Armendares S, Salamanca-Gomez F (1978) Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation. Clin Genet 13:17-24
    • (1978) Clin Genet , vol.13 , pp. 17-24
    • Armendares, S.1    Salamanca-Gomez, F.2
  • 4
    • 0030636780 scopus 로고    scopus 로고
    • Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
    • Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, et al. (1997) Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15:30-35
    • (1997) Nat Genet , vol.15 , pp. 30-35
    • Basson, C.T.1    Bachinsky, D.R.2    Lin, R.C.3    Levi, T.4    Elkins, J.A.5    Soults, J.6
  • 5
    • 0015595405 scopus 로고
    • Congenital polyvalvular disease
    • Bharati S, Lev M (1973) Congenital polyvalvular disease. Circulation 47:575-586
    • (1973) Circulation , vol.47 , pp. 575-586
    • Bharati, S.1    Lev, M.2
  • 7
    • 0028294413 scopus 로고
    • Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
    • Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT (1994) Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 93:1071-1077
    • (1994) J Clin Invest , vol.93 , pp. 1071-1077
    • Ewart, A.K.1    Jin, W.2    Atkinson, D.3    Morris, C.A.4    Keating, M.T.5
  • 8
    • 0029044207 scopus 로고
    • Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome
    • Keating MT (1995) Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome. Circulation 92:142-147
    • (1995) Circulation , vol.92 , pp. 142-147
    • Keating, M.T.1
  • 10
    • 0035263599 scopus 로고    scopus 로고
    • Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
    • Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, et al. (2001) Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410:97-101
    • (2001) Nature , vol.410 , pp. 97-101
    • Lindsay, E.A.1    Vitelli, F.2    Su, H.3    Morishima, M.4    Huynh, T.5    Pramparo, T.6
  • 12
    • 0019505194 scopus 로고
    • Trisomy 18q. a case report and review of karyotype-phenotype correlations
    • Matsuoka R, Matsuyama S, Yamamoto Y, Kuroki Y, Matsui I (1981) Trisomy 18q. A case report and review of karyotype-phenotype correlations. Hum Genet 57:78-82
    • (1981) Hum Genet , vol.57 , pp. 78-82
    • Matsuoka, R.1    Matsuyama, S.2    Yamamoto, Y.3    Kuroki, Y.4    Matsui, I.5
  • 13
    • 17744395906 scopus 로고    scopus 로고
    • TBX1 is responsible for cardiovascular defects in velo-cardio-facial/ DiGeorge syndrome
    • Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, et al. (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104:619-629
    • (2001) Cell , vol.104 , pp. 619-629
    • Merscher, S.1    Funke, B.2    Epstein, J.A.3    Heyer, J.4    Puech, A.5    Lu, M.M.6
  • 14
    • 7444229867 scopus 로고    scopus 로고
    • Genetics. the critical region in trisomy 21
    • Nelson DL, Gibbs RA (2004) Genetics. The critical region in trisomy 21. Science 306:619-621
    • (2004) Science , vol.306 , pp. 619-621
    • Nelson, D.L.1    Gibbs, R.A.2
  • 15
    • 0029669183 scopus 로고    scopus 로고
    • Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx
    • Turbay D, Wechsler SB, Blanchard KM, Izumo S (1996) Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx. Mol Med 2:86-96
    • (1996) Mol Med , vol.2 , pp. 86-96
    • Turbay, D.1    Wechsler, S.B.2    Blanchard, K.M.3    Izumo, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.