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Volumn 4, Issue 2, 2010, Pages 174-177

Giant cell lesions in noonan syndrome: Case report and review of the literature

Author keywords

Clinical features; Giant cell lesion; Noonan syndrome; Noonan like multiple giant cell lesion syndrome; PTPN11 mutation

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; PTPN11 PROTEIN, HUMAN;

EID: 77953083095     PISSN: 1936055X     EISSN: 19360568     Source Type: Journal    
DOI: 10.1007/s12105-010-0178-2     Document Type: Article
Times cited : (25)

References (17)
  • 1
  • 2
    • 40949097426 scopus 로고    scopus 로고
    • Expanding the genetic spectrum of Noonan syndrome
    • Noordam K. Expanding the genetic spectrum of Noonan syndrome. Horm Res. 2007; 68(Suppl 5): 24-7.
    • (2007) Horm Res , vol.68 , Issue.SUPPL. 5 , pp. 24-27
    • Noordam, K.1
  • 3
    • 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
  • 4
    • 66549085060 scopus 로고    scopus 로고
    • SOS1: A new player in the Noonan-like/multiple giant cell lesion syndrome
    • Hanna N, Parfait B, Talaat IM, Vidaud M, Elsedfy HH. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. Clin Genet. 2009; 75: 568-71.
    • (2009) Clin Genet , vol.75 , pp. 568-571
    • Hanna, N.1    Parfait, B.2    Talaat, I.M.3    Vidaud, M.4    Elsedfy, H.H.5
  • 5
    • 18844428291 scopus 로고    scopus 로고
    • Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
    • Lee JS, Tartaglia M, Gelb BD, et al. Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet. 2005; 42: e11.
    • (2005) J Med Genet , vol.42
    • Lee, J.S.1    Tartaglia, M.2    Gelb, B.D.3
  • 6
    • 0242426493 scopus 로고    scopus 로고
    • A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism
    • Imai Y, Kanno K, Moriya T, et al. A missense mutation in the SH3BP2 gene on chromosome 4p16. 3 found in a case of nonfamilial cherubism. Cleft Palate Craniofac J. 2003; 40: 632-8.
    • (2003) Cleft Palate Craniofac J , vol.40 , pp. 632-638
    • Imai, Y.1    Kanno, K.2    Moriya, T.3
  • 7
    • 18544388673 scopus 로고    scopus 로고
    • PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome
    • Kosaki K, Suzuki T, Muroya K, et al. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab. 2002; 87: 3529-33.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 3529-3533
    • Kosaki, K.1    Suzuki, T.2    Muroya, K.3
  • 9
    • 18444401014 scopus 로고    scopus 로고
    • Noonan syndrome and related disorders: Genetics and pathogenesis
    • Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. 2005; 6: 45-68.
    • (2005) Annu Rev Genomics Hum Genet , vol.6 , pp. 45-68
    • Tartaglia, M.1    Gelb, B.D.2
  • 11
    • 20144389353 scopus 로고    scopus 로고
    • Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature
    • Jongmans M, Sistermans EA, Rikken A, et al. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A. 2005; 134A: 165-70.
    • (2005) Am J Med Genet A , vol.134 A , pp. 165-170
    • Jongmans, M.1    Sistermans, E.A.2    Rikken, A.3
  • 12
    • 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. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. 2009; 71: 185-93.
    • (2009) Horm Res , vol.71 , pp. 185-193
    • Jorge, A.A.1    Malaquias, A.C.2    Arnhold, I.J.3    Mendonca, B.B.4
  • 13
  • 16
    • 34147142553 scopus 로고    scopus 로고
    • Novel oral findings in Schimmelpenning syndrome
    • Ernst LM, Quinn PD, Alawi F. Novel oral findings in Schimmelpenning syndrome. Am J Med Genet A. 2007; 143A: 881-3.
    • (2007) Am J Med Genet A , vol.143 A , pp. 881-883
    • Ernst, L.M.1    Quinn, P.D.2    Alawi, F.3
  • 17
    • 22244487321 scopus 로고    scopus 로고
    • Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism
    • Jafarov T, Ferimazova N, Reichenberger E. Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. Clin Genet. 2005; 68: 190-1.
    • (2005) Clin Genet , vol.68 , pp. 190-191
    • Jafarov, T.1    Ferimazova, N.2    Reichenberger, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.