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339 related items for PubMed ID: 21340158

  • 1. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
    Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR.
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):717-22. PubMed ID: 21340158
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  • 4. [SOS1 mutation: a new cause of Noonan syndrome].
    Serrano-Martín MM, Martínez-Aedo MJ, Tartaglia M, López-Siguero JP.
    An Pediatr (Barc); 2008 Apr; 68(4):365-8. PubMed ID: 18394382
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  • 5. Clinical and molecular characterization of 40 patients with Noonan syndrome.
    Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC.
    Eur J Med Genet; 2008 Apr; 51(6):566-72. PubMed ID: 18678287
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  • 6. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
    Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M.
    Eur J Med Genet; 2010 Apr; 53(5):322-4. PubMed ID: 20673819
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  • 10. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
    Longoni M, Moncini S, Cisternino M, Morella IM, Ferraiuolo S, Russo S, Mannarino S, Brazzelli V, Coi P, Zippel R, Venturin M, Riva P.
    Am J Med Genet A; 2010 Sep; 152A(9):2176-84. PubMed ID: 20683980
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  • 18. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
    Yagasaki H, Nakane T, Hasebe Y, Watanabe A, Kise H, Toda T, Koizumi K, Hoshiai M, Sugita K.
    Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
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  • 19. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
    Papadopoulos G, Papadopoulou A, Kosma K, Papadimitriou A, Papaevangelou V, Kanaka-Gantenbein C, Bountouvi E, Kitsiou-Tzeli S.
    Eur J Pediatr; 2022 Oct; 181(10):3691-3700. PubMed ID: 35904599
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