| 1 | CFC5, KRAS, NS3
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| Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
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| Cirstea IC, Gremer L, Dvorsky R, Zhang SC, Piekorz RP, Zenker M, Ahmadian MR.
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| Hum Mol Genet 22(2):262-70. doi: 10.1093/hmg/dds426. Epub 2012 Oct 11.
2013
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| 2 | CFC5, KRAS, NS3
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| Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
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| Gremer L, Merbitz-Zahradnik T, Dvorsky R, Cirstea IC, Kratz CP, Zenker M, Wittinghofer A, Ahmadian MR.
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| Hum Mutat 32(1):33-43. doi: 10.1002/humu.21377. Epub 2010 Dec 9.
2011
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| 3 | HRAS, KRAS, BRAF, CFC2, COSTS, CFC3, MAP2K1, MAP2K2, CFC4, CFC5
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| Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
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| Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, HŸbner CA, Korenke GC, Kšnig R, Kress W, KrŸger G, Meinecke P, MŸcke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.
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| Clin Genet 73(1):62-70. Epub 2007 Nov 27. 2008
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| 4 | CFC2, CFC3, CFC4, CFC5
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| Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
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| Armour CM, Allanson JE.
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| J Med Genet 45(4):249-54. Epub 2007 Nov 26. 2008
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| 5 | BRAF, CFC2, CFC3, CFC4, CFC5, COSTS, HRAS, KRAS, MAP2K1, MAP2K2, NS3
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| The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
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| Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
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| Hum Mutat 29(8):992-1006.
2008
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| 6 | CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, NS3, NS5, RAF1
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| Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
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| 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.
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| J Med Genet 45(8):500-6. Epub 2008 May 2.
2008
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| 7 | CFC5, COSTS, HRAS, KRAS, NS3
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| Clinical and molecular aspects of RAS related disorders.
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| Denayer E, de Ravel T, Legius E.
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| J Med Genet 45(11):695-703. Epub 2008 Jun 11. Review.
2008
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| 8 | KRAS, NS3, CFC5
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| Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
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| 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.
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| J Med Genet 44(2):131-5. Epub 2006 Oct 20. 2007
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| 9 | CFC2, CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, BRAF, COSTS, HRAS
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| Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
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| Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
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| Am J Med Genet A 143(8):799-807. 2007
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| 10 | CFC2, BRAF, CFC3, MAP21K1, CFC3, MAP2K2, CFC5, KRAS, COSTS, HRAS
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| Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
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| Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, HŽron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, CavŽ H.
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| J Med Genet 44(12):763-71. Epub 2007 Aug 17. 2007
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| 11 | CFC5, NS3
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| Biochemical and functional characterization of germ line KRAS mutations.
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| Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, Zenker M, Niemeyer CM, Molven A, Shannon K.
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| Mol Cell Biol 27(22):7765-70. Epub 2007 Sep 17.PMID: 17875937 2007
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