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Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Among authors: swanson kd. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Swanson KD, Winter JM, Reis M, Bentires-Alj M, Greulich H, Grewal R, Hruban RH, Yeo CJ, Yassin Y, Iartchouk O, Montgomery K, Whitman SP, Caligiuri MA, Loh ML, Gilliland DG, Look AT, Kucherlapati R, Kern SE, Meyerson M, Neel BG. Swanson KD, et al. Genes Chromosomes Cancer. 2008 Mar;47(3):253-9. doi: 10.1002/gcc.20527. Genes Chromosomes Cancer. 2008. PMID: 18064648
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia.
Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergsträsser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Starý J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M. Kratz CP, et al. Among authors: swanson kd. Leukemia. 2007 May;21(5):1108-9. doi: 10.1038/sj.leu.2404620. Epub 2007 Feb 22. Leukemia. 2007. PMID: 17315019 No abstract available.
64 results