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144 related items for PubMed ID: 17567882

  • 1. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
    Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, Wilson WG, Waldron PE.
    Am J Med Genet A; 2007 Jul 01; 143A(13):1481-8. PubMed ID: 17567882
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  • 2. 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; 2007 Jul 01; 143A(13):1472-80. PubMed ID: 17551924
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  • 3. 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, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.
    J Med Genet; 2007 Dec 01; 44(12):763-71. PubMed ID: 17704260
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  • 4. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
    Narumi Y, Aoki Y, Niihori T, Neri G, Cavé 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; 2007 Apr 15; 143A(8):799-807. PubMed ID: 17366577
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  • 5. 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, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke 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; 2008 Jan 15; 73(1):62-70. PubMed ID: 18042262
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  • 7. Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
    Aoidi R, Houde N, Landry-Truchon K, Holter M, Jacquet K, Charron L, Krishnaswami SR, Yu BD, Rauen KA, Bisson N, Newbern J, Charron J.
    Dis Model Mech; 2018 Mar 13; 11(3):. PubMed ID: 29590634
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  • 9. Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.
    Demir E, Mancano G, Pomponi MG, Ozcelik A, Gucuyener K, Neri G.
    Neuropediatrics; 2010 Jun 13; 41(3):127-31. PubMed ID: 20859831
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  • 11. 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; 2006 Mar 03; 311(5765):1287-90. PubMed ID: 16439621
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  • 13. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
    Niihori T, Aoki Y, Narumi Y, Neri G, Cavé 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; 2006 Mar 03; 38(3):294-6. PubMed ID: 16474404
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  • 15. Cardio-facio-cutaneous syndrome and moyamoya syndrome.
    Ishiguro Y, Kubota T, Takenaka J, Maruyama K, Okumura A, Negoro T, Watanabe K.
    Brain Dev; 2002 Jun 03; 24(4):245-9. PubMed ID: 12015168
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  • 16. 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; 2008 Feb 01; 17(3):419-30. PubMed ID: 17981815
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  • 17. Costello syndrome and related disorders.
    Quezada E, Gripp KW.
    Curr Opin Pediatr; 2007 Dec 01; 19(6):636-44. PubMed ID: 18025929
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  • 18. Neurological complications of cardio-facio-cutaneous syndrome.
    Yoon G, Rosenberg J, Blaser S, Rauen KA.
    Dev Med Child Neurol; 2007 Dec 01; 49(12):894-9. PubMed ID: 18039235
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