메뉴 건너뛰기




Volumn 99, Issue 7, 2014, Pages 629-634

Cardiovascular disease in Noonan syndrome

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SOS PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1;

EID: 84902368669     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2013-305047     Document Type: Article
Times cited : (114)

References (37)
  • 1
    • 0014337521 scopus 로고
    • Hypertelorism with turner phenotype. A new syndrome with associated congenital heart disease
    • Noonan JA. Hypertelorism with turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968;116:373-80.
    • (1968) Am J Dis Child , vol.116 , pp. 373-380
    • Noonan, J.A.1
  • 4
    • 0016016012 scopus 로고
    • The Ullrich-Noonan syndrome (Turner phenotype)
    • Nora JJ, Nora AH, Sinha AK, et al. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 1974;127:48-55.
    • (1974) Am J Dis Child , vol.127 , pp. 48-55
    • Nora, J.J.1    Nora, A.H.2    Sinha, A.K.3
  • 5
    • 0033498871 scopus 로고    scopus 로고
    • Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal
    • Marino B, Digilio MC, Toscano A, et al. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703-6. (Pubitemid 30180418)
    • (1999) Journal of Pediatrics , vol.135 , Issue.6 , pp. 703-706
    • Marino, B.1    Digilio, M.C.2    Toscano, A.3    Giannotti, A.4    Dallapiccola, B.5
  • 6
    • 77957693114 scopus 로고    scopus 로고
    • Noonan syndrome: Clinical features, diagnosis, and management guidelines
    • Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010;126:746-59.
    • (2010) Pediatrics , vol.126 , pp. 746-759
    • Romano, A.A.1    Allanson, J.E.2    Dahlgren, J.3
  • 7
    • 77955574059 scopus 로고    scopus 로고
    • Noonan syndrome: Clinical aspects and molecular pathogenesis
    • Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010;1:2-26.
    • (2010) Mol Syndromol , vol.1 , pp. 2-26
    • Tartaglia, M.1    Zampino, G.2    Gelb, B.D.3
  • 8
    • 56649102280 scopus 로고    scopus 로고
    • Clinical and molecular characterization of 40 patients with Noonan syndrome
    • Ferrero GB, Baldassarre G, Delmonaco AG, et al. Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet 2008;51:566-72.
    • (2008) Eur J Med Genet , vol.51 , pp. 566-572
    • Ferrero, G.B.1    Baldassarre, G.2    Delmonaco, A.G.3
  • 12
    • 79251487850 scopus 로고    scopus 로고
    • Survival implications: Hypertrophic cardiomyopathy in Noonan syndrome
    • Hickey EJ, Mehta R, Elmi M, et al. Survival implications: hypertrophic cardiomyopathy in Noonan syndrome. Congenit Heart Dis 2011;6:41-7.
    • (2011) Congenit Heart Dis , vol.6 , pp. 41-47
    • Hickey, E.J.1    Mehta, R.2    Elmi, M.3
  • 13
    • 0028218794 scopus 로고
    • Independent predictors of long-term results after balloon pulmonary valvuloplasty. Valvuloplasty and Angioplasty of Congenital Anomalies (VACA) Registry Investigators
    • McCrindle BW. Independent predictors of long-term results after balloon pulmonary valvuloplasty. Valvuloplasty and Angioplasty of Congenital Anomalies (VACA) Registry Investigators. Circulation 1994;89:1751-9.
    • (1994) Circulation , vol.89 , pp. 1751-1759
    • McCrindle, B.W.1
  • 14
    • 28644434529 scopus 로고    scopus 로고
    • Echocardiographic and electrocardiographic identification of those children with hypertrophic cardiomyopathy who should be considered at high-risk of dying suddenly
    • DOI 10.1017/S1047951105001824, PII S1047951105001824
    • Ostman-Smith I, Wettrell G, Keeton B, et al. Echocardiographic and electrocardiographic identification of those children with hypertrophic cardiomyopathy who should be considered at high-risk of dying suddenly. Cardiol Young 2005;15:632-42. (Pubitemid 41748558)
    • (2005) Cardiology in the Young , vol.15 , Issue.6 , pp. 632-642
    • Ostman-Smith, I.1    Wettrell, G.2    Keeton, B.3    Riesenfeld, T.4    Holmgren, D.5    Ergander, U.6
  • 15
    • 84866308210 scopus 로고    scopus 로고
    • Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry
    • Wilkinson JD, Lowe AM, Salbert BA, et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012;164:442-8.
    • (2012) Am Heart J , vol.164 , pp. 442-448
    • Wilkinson, J.D.1    Lowe, A.M.2    Salbert, B.A.3
  • 19
    • 75549086149 scopus 로고    scopus 로고
    • PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome
    • Jefferies JL, Belmont JW, Pignatelli R, et al. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol 2010;31:114-16.
    • (2010) Pediatr Cardiol , vol.31 , pp. 114-116
    • Jefferies, J.L.1    Belmont, J.W.2    Pignatelli, R.3
  • 20
    • 33747144981 scopus 로고    scopus 로고
    • Aortic root dilatation is a rare complication of Noonan syndrome
    • DOI 10.1007/s00246-006-1210-x
    • Power PD, Lewin MB, Hannibal MC, et al. Aortic root dilatation is a rare complication of Noonan syndrome. Pediatr Cardiol 2006;27:478-80. (Pubitemid 44222403)
    • (2006) Pediatric Cardiology , vol.27 , Issue.4 , pp. 478-480
    • Power, P.D.1    Lewin, M.B.2    Hannibal, M.C.3    Glass, I.A.4
  • 22
    • 84891630526 scopus 로고    scopus 로고
    • Frequency of aortic dilation in Noonan Syndrome
    • doi: 10.1016/j.amjcard.2013.09.034 [published Online First: Epub Date]
    • Cornwall JW, Green RS, Nielsen JC, et al. Frequency of aortic dilation in Noonan Syndrome. Am J Cardiol 2013. doi: 10.1016/j.amjcard.2013.09.034 [published Online First: Epub Date]|.
    • (2013) Am J Cardiol
    • Cornwall, J.W.1    Green, R.S.2    Nielsen, J.C.3
  • 23
    • 84872498338 scopus 로고    scopus 로고
    • Atrioventricular canal defect in patients with RASopathies
    • Digilio MC, Romana Lepri F, Dentici ML, et al. Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet 2013;21:200-4.
    • (2013) Eur J Hum Genet , vol.21 , pp. 200-204
    • Digilio, M.C.1    Romana Lepri, F.2    Dentici, M.L.3
  • 24
    • 0034941157 scopus 로고    scopus 로고
    • Outcome following surgical closure of secundum atrial septal defect
    • DOI 10.1046/j.1440-1754.2001.00659.x
    • Jones DA, Radford DJ, Pohlner PG. Outcome following surgical closure of secundum atrial septal defect. J Paediatr Child Health 2001;37:274-7. (Pubitemid 32619845)
    • (2001) Journal of Paediatrics and Child Health , vol.37 , Issue.3 , pp. 274-277
    • Jones, D.A.1    Radford, D.J.2    Pohlner, P.G.3
  • 27
    • 34147222255 scopus 로고    scopus 로고
    • Percutaneous balloon pulmonary valvuloplasty: State of the art
    • Rao PS. Percutaneous balloon pulmonary valvuloplasty: state of the art. Catheter Cardiovasc Interv 2007;69:747-63.
    • (2007) Catheter Cardiovasc Interv , vol.69 , pp. 747-763
    • Rao, P.S.1
  • 28
    • 14444288558 scopus 로고    scopus 로고
    • Results of three to 10 year follow up of balloon dilatation of the pulmonary vale
    • Rao PS, Galal O, Patnana M, et al. Results of three to 10 year follow up of balloon dilatation of the pulmonary valve. Heart 1998;80:591-5. (Pubitemid 28561695)
    • (1998) Heart , vol.80 , Issue.6 , pp. 591-595
    • Rao, P.S.1    Galal, O.2    Patnana, M.3    Buck, S.H.4    Wilson, A.D.5
  • 29
    • 33847103768 scopus 로고    scopus 로고
    • Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: Findings from the Pediatric Cardiomyopathy Registry
    • DOI 10.1161/CIRCULATIONAHA.106.621185, PII 0000301720070213000015
    • Colan SD, Lipshultz SE, Lowe AM, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation 2007;115:773-81. (Pubitemid 46294745)
    • (2007) Circulation , vol.115 , Issue.6 , pp. 773-781
    • Colan, S.D.1    Lipshultz, S.E.2    Lowe, A.M.3    Sleeper, L.A.4    Messere, J.5    Cox, G.F.6    Lurie, P.R.7    Orav, E.J.8    Towbin, J.A.9
  • 34
    • 34250167612 scopus 로고    scopus 로고
    • Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation
    • Ferreira LV, Souza SA, Montenegro LR, et al. [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. Arq Bras Endocrinol Metabol 2007;51:450-6.
    • (2007) Arq Bras Endocrinol Metabol , vol.51 , pp. 450-456
    • Ferreira, L.V.1    Souza, S.A.2    Montenegro, L.R.3
  • 35
    • 77149127346 scopus 로고    scopus 로고
    • Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: Dephosphorylation of serine 259 as the essential mechanism for mutant activation
    • Kobayashi T, Aoki Y, Niihori T, et al. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010;31:284-94.
    • (2010) Hum Mutat , vol.31 , pp. 284-294
    • Kobayashi, T.1    Aoki, Y.2    Niihori, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.