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Journal Abstract Search

200 related items for PubMed ID: 18064648

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
    Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW.
    J Pediatr; 2011 Dec; 159(6):1029-35. PubMed ID: 21784453
    [Abstract] [Full Text] [Related]

  • 23. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
    Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD.
    Nat Genet; 2007 Jan; 39(1):75-9. PubMed ID: 17143282
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  • 24. Acute lymphoblastic leukemia in the context of RASopathies.
    Cavé H, Caye A, Strullu M, Aladjidi N, Vignal C, Ferster A, Méchinaud F, Domenech C, Pierri F, Contet A, Cacheux V, Irving J, Kratz C, Clavel J, Verloes A.
    Eur J Med Genet; 2016 Mar; 59(3):173-8. PubMed ID: 26855057
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  • 25. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
    Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
    J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
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  • 30. Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.
    Padidela R, Camacho-Hübner C, Attie KM, Savage MO.
    Horm Res; 2008 Aug; 70(3):129-36. PubMed ID: 18663312
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  • 31. [RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].
    Gos M, Leszkiewicz M, Abramowicz A.
    Postepy Biochem; 2012 Aug; 58(3):255-64. PubMed ID: 23373411
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  • 32. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
    Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA.
    Clin Endocrinol (Oxf); 2008 Sep; 69(3):426-31. PubMed ID: 18331608
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  • 33. Pilocytic astrocytoma in a child with Noonan syndrome.
    Schuettpelz LG, McDonald S, Whitesell K, Desruisseau DM, Grange DK, Gurnett CA, Wilson DB.
    Pediatr Blood Cancer; 2009 Dec; 53(6):1147-9. PubMed ID: 19621452
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  • 34. Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
    Moncini S, Bonati MT, Morella I, Ferrari L, Brambilla R, Riva P.
    Eur J Hum Genet; 2015 Nov; 23(11):1531-7. PubMed ID: 25712082
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  • 36. SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
    Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F.
    Am J Med Genet A; 2019 Oct; 179(10):2083-2090. PubMed ID: 31368652
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  • 38. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
    Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K.
    J Med Genet; 2007 Oct; 44(10):651-6. PubMed ID: 17586837
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  • 39. The tyrosine phosphatase Shp2 (PTPN11) in cancer.
    Chan G, Kalaitzidis D, Neel BG.
    Cancer Metastasis Rev; 2008 Jun; 27(2):179-92. PubMed ID: 18286234
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