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Volumn 158 A, Issue 11, 2012, Pages 2700-2706

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

Author keywords

Body mass index; Growth charts; Noonan syndrome; Noonan like syndrome; Short stature

Indexed keywords

B RAF KINASE; K RAS PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN;

EID: 84867843251     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35519     Document Type: Article
Times cited : (57)

References (33)
  • 1
    • 0023133725 scopus 로고
    • Noonan syndrome
    • Allanson JE. 1987. Noonan syndrome. J Med Genet 24: 9-13.
    • (1987) J Med Genet , vol.24 , pp. 9-13
    • Allanson, J.E.1
  • 3
    • 33644829154 scopus 로고    scopus 로고
    • Stops along the RAS pathway in human genetic disease
    • Bentires-Alj M, Kontaridis MI, Neel BG. 2006. Stops along the RAS pathway in human genetic disease. Nat Med 12: 283-285.
    • (2006) Nat Med , vol.12 , pp. 283-285
    • Bentires-Alj, M.1    Kontaridis, M.I.2    Neel, B.G.3
  • 6
    • 0026682977 scopus 로고
    • Smoothing reference centile curves: The LMS method and penalized likelihood
    • Cole TJ, Green PJ. 1992. Smoothing reference centile curves: The LMS method and penalized likelihood. Stat Med 11: 1305-1319.
    • (1992) Stat Med , vol.11 , pp. 1305-1319
    • Cole, T.J.1    Green, P.J.2
  • 8
    • 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, Mendonca BB, Jorge AA. 2005. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab 90: 5156-5160.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5156-5160
    • Ferreira, L.V.1    Souza, S.A.2    Arnhold, I.J.3    Mendonca, B.B.4    Jorge, A.A.5
  • 11
    • 61349163644 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: A review of clinical features and mutations in genes of the RAS/MAPK pathway
    • Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB. 2009. Noonan syndrome and related disorders: A review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 71: 185-193.
    • (2009) Horm Res , vol.71 , pp. 185-193
    • Jorge, A.A.1    Malaquias, A.C.2    Arnhold, I.J.3    Mendonca, B.B.4
  • 12
    • 57349108541 scopus 로고    scopus 로고
    • PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
    • Ko JM, Kim JM, Kim GH, Yoo HW. 2008. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet 53: 999-1006.
    • (2008) J Hum Genet , vol.53 , pp. 999-1006
    • Ko, J.M.1    Kim, J.M.2    Kim, G.H.3    Yoo, H.W.4
  • 15
  • 22
    • 0031578276 scopus 로고    scopus 로고
    • Seminars in medicine of the Beth Israel Deaconess Medical Center. Neuroendocrine responses to starvation and weight loss
    • Schwartz MW, Seeley RJ. 1997. Seminars in medicine of the Beth Israel Deaconess Medical Center. Neuroendocrine responses to starvation and weight loss. N Engl J Med 336: 1802-1811.
    • (1997) N Engl J Med , vol.336 , pp. 1802-1811
    • Schwartz, M.W.1    Seeley, R.J.2
  • 24
    • 77951571806 scopus 로고    scopus 로고
    • Comparison between the growth of Brazilian children and adolescents and the reference growth charts: Data from a Brazilian project
    • Silva DA, Pelegrini A, Petroski EL, Gaya AC. 2010. Comparison between the growth of Brazilian children and adolescents and the reference growth charts: Data from a Brazilian project. J Pediatr (RioJ) 86: 115-120.
    • (2010) J Pediatr (RioJ) , vol.86 , pp. 115-120
    • Silva, D.A.1    Pelegrini, A.2    Petroski, E.L.3    Gaya, A.C.4
  • 27
    • 77955574059 scopus 로고    scopus 로고
    • Noonan syndrome: Clinical aspects and molecular pathogenesis
    • Tartaglia M, Zampino G, Gelb BD. 2010. Noonan syndrome: Clinical aspects and molecular pathogenesis. Mol Syndromol 1: 2-26.
    • (2010) Mol Syndromol , vol.1 , pp. 2-26
    • Tartaglia, M.1    Zampino, G.2    Gelb, B.D.3
  • 29
    • 68649121646 scopus 로고    scopus 로고
    • The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation
    • Tidyman WE, Rauen KA. 2009. The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19: 230-236.
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 230-236
    • Tidyman, W.E.1    Rauen, K.A.2
  • 30
    • 0014525649 scopus 로고
    • Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation
    • Usher R, McLean F. 1969. Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 74: 901-910.
    • (1969) J Pediatr , vol.74 , pp. 901-910
    • Usher, R.1    McLean, F.2
  • 31
    • 33747086270 scopus 로고    scopus 로고
    • WHO Child Growth Standards based on length/height, weight and age
    • WHO.
    • WHO. 2006. WHO Child Growth Standards based on length/height, weight and age. Acta Paediatr Suppl 450: 76-85.
    • (2006) Acta Paediatr Suppl , vol.450 , pp. 76-85


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.