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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
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.
Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia.
de Vries AC, Stam RW, Kratz CP, Zenker M, Niemeyer CM, van den Heuvel-Eibrink MM; European Working Group on childhood MDS (EWOG-MDS). de Vries AC, et al. Among authors: zenker m. Haematologica. 2007 Nov;92(11):1574-5. doi: 10.3324/haematol.11493. Haematologica. 2007. PMID: 18024410 Free article.
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. Among authors: zenker m. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.
Mutations in GRIP1 cause Fraser syndrome.
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Vogel MJ, et al. Among authors: zenker m. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510445
399 results