Citations for
1HRAS, KRAS, BRAF, CFC2, COSTS, CFC3, MAP2K1, MAP2K2, CFC4, CFC5
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
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.
Clin Genet 73(1):62-70. Epub 2007 Nov 27. 2008
2MAP2K1, MAP2K2, BRAF, CFC3, CFC4, CFC2
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O.
Hum Mol Genet 17(3):419-30. Epub 2007 Nov 2. 2008
3CFC2, CFC3, CFC4, CFC5
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
Armour CM, Allanson JE.
J Med Genet 45(4):249-54. Epub 2007 Nov 26. 2008
4BRAF, CFC2, CFC3, CFC4, CFC5, COSTS, HRAS, KRAS, MAP2K1, MAP2K2, NS3
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
Hum Mutat 29(8):992-1006. 2008
5BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
Krab LC, Goorden SM, Elgersma Y.
Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
6CFC2, CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, BRAF, COSTS, HRAS
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
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.
Am J Med Genet A 143(8):799-807. 2007
7BRAF,CFC2,CFC3,MAP2K1
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D, Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K.
Am J Med Genet A 143(13):1472-80. 2007
8CFC2, BRAF, CFC3, MAP21K1, CFC3, MAP2K2, CFC5, KRAS, COSTS, HRAS
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
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.
J Med Genet 44(12):763-71. Epub 2007 Aug 17. 2007
9CFC2, BRAF, RAF1, MAP2K1, MAP2K2, CFC3, CFC4
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA.
Science 311(5765):1287-90. Epub 2006 Jan 26. 2006
10KRAS, BRAF, CFC2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y.
Nat Genet 38(3):294-6. Epub 2006 Feb 12. 2006
11CFC2, BRAF, CFC3, MAP2K1, CFC4, MAP2K2, COSTS, HRAS
Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
Rauen KA.
Am J Med Genet A 140(15):1681-3. No abstract available. 2006
12CFC2, CFC3, CFC4
The cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.
J Med Genet 43(11):833-42. Epub 2006 Jul 6. 2006