메뉴 건너뛰기




Volumn 92, Issue 2, 2007, Pages 128-132

The natural history of Noonan syndrome: A long-term follow-up study

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HEART FAILURE; HISTORY OF MEDICINE; HUMAN; MAJOR CLINICAL STUDY; MALE; MORTALITY; NOONAN SYNDROME; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PTPN11 GENE; PULMONARY VALVE STENOSIS; SCHOOL CHILD; TRANSLUMINAL VALVULOPLASTY;

EID: 33847075012     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2006.104547     Document Type: Article
Times cited : (209)

References (27)
  • 3
    • 0028077697 scopus 로고
    • Mapping a gene for Noonan syndrome to the long arm of chromosome 12
    • Jamieson CR, van der Burgt I, Brady AF, et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994;8:357-60.
    • (1994) Nat Genet , vol.8 , pp. 357-360
    • Jamieson, C.R.1    van der Burgt, I.2    Brady, A.F.3
  • 4
    • 18344385476 scopus 로고    scopus 로고
    • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
    • Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-8.
    • (2001) Nat Genet , vol.29 , pp. 465-468
    • Tartaglia, M.1    Mehler, E.L.2    Goldberg, R.3
  • 5
    • 0038771965 scopus 로고    scopus 로고
    • The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
    • Neel BG, Gu H, Pao L. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci 2003;28:284-93.
    • (2003) Trends Biochem Sci , vol.28 , pp. 284-293
    • Neel, B.G.1    Gu, H.2    Pao, L.3
  • 6
    • 18344370436 scopus 로고    scopus 로고
    • PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    • Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002;70:1555-63.
    • (2002) Am J Hum Genet , vol.70 , pp. 1555-1563
    • Tartaglia, M.1    Kalidas, K.2    Shaw, A.3
  • 7
    • 12144286459 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Noonan syndrome
    • Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368-74.
    • (2004) J Pediatr , vol.144 , pp. 368-374
    • Zenker, M.1    Buheitel, G.2    Rauch, R.3
  • 8
    • 0037300995 scopus 로고    scopus 로고
    • Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
    • Musante L, Kehl HG, Majewski F, et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 2003;11:201-6.
    • (2003) Eur J Hum Genet , vol.11 , pp. 201-206
    • Musante, L.1    Kehl, H.G.2    Majewski, F.3
  • 9
    • 0042329925 scopus 로고    scopus 로고
    • Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
    • Sarkozy A, Conti E, Seripa D, et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 2003;40:704-8.
    • (2003) J Med Genet , vol.40 , pp. 704-708
    • Sarkozy, A.1    Conti, E.2    Seripa, D.3
  • 10
    • 85142970499 scopus 로고    scopus 로고
    • Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985;21:493-506.
    • Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985;21:493-506.
  • 13
    • 0028127042 scopus 로고
    • Clinical and molecular studies in a large Dutch family with Noonan syndrome
    • van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994;53:187-91.
    • (1994) Am J Med Genet , vol.53 , pp. 187-191
    • van der Burgt, I.1    Berends, E.2    Lommen, E.3
  • 15
    • 0025821019 scopus 로고
    • Noonan-like/multiple giant cell lesion syndrome
    • Cohen MM Jr, Gorlin RJ. Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 1991;40:159-66.
    • (1991) Am J Med Genet , vol.40 , pp. 159-166
    • Cohen Jr, M.M.1    Gorlin, R.J.2
  • 16
    • 0022473925 scopus 로고
    • Growth curves for height in Noonan syndrome
    • Witt DR, Keena BA, Hall JG, et al. Growth curves for height in Noonan syndrome. Clin Genet 1986;30:150-3.
    • (1986) Clin Genet , vol.30 , pp. 150-153
    • Witt, D.R.1    Keena, B.A.2    Hall, J.G.3
  • 17
    • 0024238928 scopus 로고
    • Noonan syndrome: Growth and clinical manifestations in 144 cases
    • Ranke MB, Heidemann P, Knupfer C, et al. Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 1988;148:220-7.
    • (1988) Eur J Pediatr , vol.148 , pp. 220-227
    • Ranke, M.B.1    Heidemann, P.2    Knupfer, C.3
  • 18
    • 24344470070 scopus 로고    scopus 로고
    • PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome
    • Ferreira LV, Souza SA, Arnhold IJ, et al. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab 2005;90:5156-60.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5156-5160
    • Ferreira, L.V.1    Souza, S.A.2    Arnhold, I.J.3
  • 19
    • 30344444283 scopus 로고    scopus 로고
    • Noonan syndrome: Relationships between genotype, growth, and growth factors
    • Limal JM, Parfait B, Cabrol S, et al. Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab 2006;91:300-6.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 300-306
    • Limal, J.M.1    Parfait, B.2    Cabrol, S.3
  • 20
    • 0027402704 scopus 로고
    • Five-year follow-up after balloon pulmonary valvuloplasty
    • Masura J, Burch M, Deanfield JE, et al. Five-year follow-up after balloon pulmonary valvuloplasty. J Am Coll Cardiol 1993;21:132-6.
    • (1993) J Am Coll Cardiol , vol.21 , pp. 132-136
    • Masura, J.1    Burch, M.2    Deanfield, J.E.3
  • 21
    • 0028218794 scopus 로고
    • Independent predictors of long-term results after balloon pulmonary valvuloplasty. Valvuloplasly and Angioplasty of Congenital Anomalies (VACA) Registry Investigators
    • McCrindle BW. Independent predictors of long-term results after balloon pulmonary valvuloplasty. Valvuloplasly and Angioplasty of Congenital Anomalies (VACA) Registry Investigators. Circulation 1994;89:1751- 9.
    • (1994) Circulation , vol.89 , pp. 1751-1759
    • McCrindle, B.W.1
  • 22
    • 0026685902 scopus 로고
    • Myocardial disarray in Noonan syndrome
    • Burch M, Mann JM, Sharland M, et al. Myocardial disarray in Noonan syndrome. Br Heart J 1992;68:586-8.
    • (1992) Br Heart J , vol.68 , pp. 586-588
    • Burch, M.1    Mann, J.M.2    Sharland, M.3
  • 23
    • 0030370832 scopus 로고    scopus 로고
    • Prevalence of feeding problems and oral motor dysfunction in children with cerebral palsy: A community survey
    • Reilly S, Skuse D, Poblete X. Prevalence of feeding problems and oral motor dysfunction in children with cerebral palsy: a community survey. J Pediatr 1996;129:877-82.
    • (1996) J Pediatr , vol.129 , pp. 877-882
    • Reilly, S.1    Skuse, D.2    Poblete, X.3
  • 24
    • 0027407087 scopus 로고
    • Nutrition-related growth failure of children with quadriplegic cerebral palsy
    • Stallings VA, Charney EB, Davies JC, et al. Nutrition-related growth failure of children with quadriplegic cerebral palsy. Dev Med Child Neurol 1993;35:126-38.
    • (1993) Dev Med Child Neurol , vol.35 , pp. 126-138
    • Stallings, V.A.1    Charney, E.B.2    Davies, J.C.3
  • 25
    • 0033048896 scopus 로고    scopus 로고
    • Feeding difficulties and foregut dysmotility in Noonan syndrome
    • Shah N, Rodriguez M, Louis DS, et al. Feeding difficulties and foregut dysmotility in Noonan syndrome. Arch Dis Child 1999;81:28-31.
    • (1999) Arch Dis Child , vol.81 , pp. 28-31
    • Shah, N.1    Rodriguez, M.2    Louis, D.S.3
  • 26
    • 0026548386 scopus 로고
    • Coagulation-factor deficiencies and abnormal bleeding in Noonan syndrome
    • Sharland M, Patton MA, Talbot S, et al. Coagulation-factor deficiencies and abnormal bleeding in Noonan syndrome. Lancet 1992;339:19-21.
    • (1992) Lancet , vol.339 , pp. 19-21
    • Sharland, M.1    Patton, M.A.2    Talbot, S.3
  • 27
    • 0038278866 scopus 로고    scopus 로고
    • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
    • Tartaglia M, Niemeyer CM, Fragale A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003;34:148-50.
    • (2003) Nat Genet , vol.34 , pp. 148-150
    • Tartaglia, M.1    Niemeyer, C.M.2    Fragale, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.