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Volumn 20, Issue 2, 2009, Pages 161-166

Double outlet right ventricle and aortopulmonary window in a patient with Cornelia de Lange syndrome: A novel association

Author keywords

Aortopulmonary window; Cornelia de Lange; Double outlet right ventricle

Indexed keywords

AORTOPULMONARY SEPTAL DEFECT; ARTICLE; CASE REPORT; COLOR ULTRASOUND FLOWMETRY; DE LANGE SYNDROME; DISEASE ASSOCIATION; ELECTROCARDIOGRAPHY; FEMALE; HEART MURMUR; HEART RIGHT VENTRICLE DOUBLE OUTLET; HUMAN; INFANT; OUTPATIENT; PATHOGENESIS; PHYSICAL EXAMINATION; SYNDACTYLY;

EID: 67650513847     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (12)
  • 2
    • 0021950757 scopus 로고
    • Sixty-four patients with Brachmann-de Lange syndrome: A survey
    • HAWLEY P.P., JACKSON L.G., KURNIT. D.M.: Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am. J. Med. Genet., 1985, 20, 453-459.
    • (1985) Am. J. Med. Genet. , vol.20 , pp. 453-459
    • Hawley, P.P.1    Jackson, L.G.2    Kurnit, D.M.3
  • 4
    • 47549086683 scopus 로고    scopus 로고
    • Aortopulmonary window, critical pulmonary stenosis, and hypoplastic right ventricle
    • KOESTENBERGER M., NAGEL B., CVIRN G., BEITZKE A.: Aortopulmonary window, critical pulmonary stenosis, and hypoplastic right ventricle. Clin. Res. Cardiol., 2008, 97, 467-469.
    • (2008) Clin. Res. Cardiol. , vol.97 , pp. 467-469
    • Koestenberger, M.1    Nagel, B.2    Cvirn, G.3    Beitzke, A.4
  • 6
    • 50049105485 scopus 로고    scopus 로고
    • Double outlet right ventricle: Aetiologies and associations
    • OBLER D., JURASZEK A.L., SMOOT L.B., NATOWICZ M.R.: Double outlet right ventricle: aetiologies and associations. J. Med. Genet., 2008, 45, 481-497.
    • (2008) J. Med. Genet. , vol.45 , pp. 481-497
    • Obler, D.1    Juraszek, A.L.2    Smoot, L.B.3    Natowicz, M.R.4
  • 7
    • 33646375465 scopus 로고    scopus 로고
    • Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange, syndrome: Linking altered Notch signaling to aortic valve disease
    • OUDIT G.Y., CHOW C.M., CANTOR W.J.: Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange, syndrome: linking altered Notch signaling to aortic valve disease. Cardiovasc. Pathol., 2006, 15, 165-167.
    • (2006) Cardiovasc. Pathol. , vol.15 , pp. 165-167
    • Oudit, G.Y.1    Chow, C.M.2    Cantor, W.J.3
  • 8
    • 0027496221 scopus 로고
    • Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype
    • SAUL R.A., ROGERS R.C., PHELAN M.C., STEVENSON R.E.: Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. Am. J. Med. Genet., 1993, 47, 999-1002.
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 999-1002
    • Saul, R.A.1    Rogers, R.C.2    Phelan, M.C.3    Stevenson, R.E.4
  • 9
    • 0032763778 scopus 로고    scopus 로고
    • Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes
    • SMITH M., HERRELL S., LUSHER M., LAKO L., SIMPSON C., WIESTNER A., SKODA R., IRELAND M., STRACHAN T.: Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Hum. Genet., 1999, 105, 104-111.
    • (1999) Hum. Genet. , vol.105 , pp. 104-111
    • Smith, M.1    Herrell, S.2    Lusher, M.3    Lako, L.4    Simpson, C.5    Wiestner, A.6    Skoda, R.7    Ireland, M.8    Strachan, T.9
  • 10
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • TONKIN E.T., WANG T.J., LISGO S., BAMSHAD M.J., STRACHAN T.: NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet., 2004, 36, 636-641.
    • (2004) Nat. Genet. , vol.36 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5
  • 12
    • 34848911616 scopus 로고    scopus 로고
    • Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome
    • DOI 10.1242/dev.005884
    • ZHANG B., JAIN S., SONG H., FU M., HEUCKEROTH R.O, ERLICH J.M, JAY P.Y., MILBRANDT J.: Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. Development, 2007, 134, 3191-3201. (Pubitemid 47506157)
    • (2007) Development , vol.134 , Issue.17 , pp. 3191-3201
    • Zhang, B.1    Jain, S.2    Song, H.3    Fu, M.4    Heuckeroth, R.O.5    Erlich, J.M.6    Jay, P.Y.7    Milbrandt, J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.