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Journal Abstract Search

393 related items for PubMed ID: 17483702

  • 21. Costello syndrome and related disorders.
    Quezada E, Gripp KW.
    Curr Opin Pediatr; 2007 Dec; 19(6):636-44. PubMed ID: 18025929
    [Abstract] [Full Text] [Related]

  • 22. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
    Koudova M, Seemanova E, Zenker M.
    Eur J Med Genet; 2009 Dec; 52(5):337-40. PubMed ID: 19416762
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  • 24. 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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  • 25. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
    Rauen KA.
    Am J Med Genet A; 2006 Aug 01; 140(15):1681-3. PubMed ID: 16804887
    [No Abstract] [Full Text] [Related]

  • 26. Gene symbol: BRAF. Disease: Cardio-facio-cutaneous syndrome.
    Cave H.
    Hum Genet; 2008 Feb 01; 123(1):108-9. PubMed ID: 18386342
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  • 29. PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
    Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G.
    Eur J Hum Genet; 2003 Jan 01; 11(1):64-8. PubMed ID: 12529707
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  • 32. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.
    Søvik O, Schubbert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A.
    J Med Genet; 2007 Jul 01; 44(7):e84. PubMed ID: 17601930
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  • 33. 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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  • 34. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.
    Clin Genet; 2013 Feb 01; 83(2):181-6. PubMed ID: 22420426
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  • 35. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
    Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y.
    J Hum Genet; 2008 Feb 01; 53(9):834-841. PubMed ID: 18651097
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  • 37. The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features.
    Sabatino G, Verrotti A, Domizio S, Angeiozzi B, Chiarelli F, Neri G.
    Childs Nerv Syst; 1997 Apr 01; 13(4):238-41. PubMed ID: 9202862
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  • 40. 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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