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Page 1
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: kucherlapati rs. 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 detection using automated fluorescence-based sequencing.
Montgomery KT, Iartchouck O, Li L, Perera A, Yassin Y, Tamburino A, Loomis S, Kucherlapati R. Montgomery KT, et al. Curr Protoc Hum Genet. 2008 Apr;Chapter 7:Unit7.9. doi: 10.1002/0471142905.hg0709s57. Curr Protoc Hum Genet. 2008. PMID: 18428426
A suggested role for mitochondria in Noonan syndrome.
Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Hüttemann M. Lee I, et al. Biochim Biophys Acta. 2010 Feb;1802(2):275-83. doi: 10.1016/j.bbadis.2009.10.005. Epub 2009 Oct 14. Biochim Biophys Acta. 2010. PMID: 19835954 Free PMC article.
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. Cirstea IC, et al. Among authors: kucherlapati rs. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6. Nat Genet. 2010. PMID: 19966803 Free PMC article.
Cardiovascular disease in Noonan syndrome.
Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE, Lacro RV. Prendiville TW, et al. Among authors: kucherlapati rs. Arch Dis Child. 2014 Jul;99(7):629-34. doi: 10.1136/archdischild-2013-305047. Epub 2014 Feb 17. Arch Dis Child. 2014. PMID: 24534818
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: kucherlapati rs. Leukemia. 2007 May;21(5):1108-9. doi: 10.1038/sj.leu.2404620. Epub 2007 Feb 22. Leukemia. 2007. PMID: 17315019 No abstract available.
135 results