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399 results

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Page 1
Germline KRAS mutations cause Noonan syndrome.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Schubbert S, et al. Among authors: zenker m. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 Feb 12. Nat Genet. 2006. PMID: 16474405
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.
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: zenker m. Leukemia. 2007 May;21(5):1108-9. doi: 10.1038/sj.leu.2404620. Epub 2007 Feb 22. Leukemia. 2007. PMID: 17315019 No abstract available.
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.
Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP. Karow A, et al. Among authors: zenker m. Leukemia. 2007 Jun;21(6):1303-5. doi: 10.1038/sj.leu.2404651. Epub 2007 Mar 15. Leukemia. 2007. PMID: 17361219 No abstract available.
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. Zenker M, et al. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.
Biochemical and functional characterization of germ line KRAS mutations.
Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, Zenker M, Niemeyer CM, Molven A, Shannon K. Schubbert S, et al. Among authors: zenker m. Mol Cell Biol. 2007 Nov;27(22):7765-70. doi: 10.1128/MCB.00965-07. Epub 2007 Sep 17. Mol Cell Biol. 2007. PMID: 17875937 Free PMC article.
399 results