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Journal Abstract Search

267 related items for PubMed ID: 20859831

  • 1. 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; 41(3):127-31. PubMed ID: 20859831
    [Abstract] [Full Text] [Related]

  • 2. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
    Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y.
    J Pediatr Hematol Oncol; 2007 May; 29(5):287-90. PubMed ID: 17483702
    [Abstract] [Full Text] [Related]

  • 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; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 4. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
    Tidyman WE, Rauen KA.
    Expert Rev Mol Med; 2008 Dec 09; 10():e37. PubMed ID: 19063751
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].
    Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE.
    Tidsskr Nor Laegeforen; 2009 Nov 19; 129(22):2358-61. PubMed ID: 19935936
    [Abstract] [Full Text] [Related]

  • 10. A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
    Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F.
    Genet Couns; 2012 Nov 19; 23(2):305-11. PubMed ID: 22876591
    [Abstract] [Full Text] [Related]

  • 11. 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 19; 73(1):62-70. PubMed ID: 18042262
    [Abstract] [Full Text] [Related]

  • 12. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
    Rodriguez-Viciana P, Rauen KA.
    Methods Enzymol; 2008 Jan 19; 438():277-89. PubMed ID: 18413255
    [Abstract] [Full Text] [Related]

  • 13. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
    Rauen KA, Maeda Y, Egense A, Tidyman WE.
    Am J Med Genet A; 2021 Feb 19; 185(2):469-475. PubMed ID: 33274568
    [Abstract] [Full Text] [Related]

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

  • 15. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
    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.
    J Med Genet; 2008 Aug 19; 45(8):500-6. PubMed ID: 18456719
    [Abstract] [Full Text] [Related]

  • 16. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
    Armour CM, Allanson JE.
    J Med Genet; 2008 Apr 19; 45(4):249-54. PubMed ID: 18039946
    [Abstract] [Full Text] [Related]

  • 17. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
    Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA.
    Clin Genet; 2013 Jun 19; 83(6):539-44. PubMed ID: 22946697
    [Abstract] [Full Text] [Related]

  • 18. Neurological complications of cardio-facio-cutaneous syndrome.
    Yoon G, Rosenberg J, Blaser S, Rauen KA.
    Dev Med Child Neurol; 2007 Dec 19; 49(12):894-9. PubMed ID: 18039235
    [Abstract] [Full Text] [Related]

  • 19. HRAS and the Costello syndrome.
    Rauen KA.
    Clin Genet; 2007 Feb 19; 71(2):101-8. PubMed ID: 17250658
    [Abstract] [Full Text] [Related]

  • 20. The cardiofaciocutaneous syndrome.
    Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.
    J Med Genet; 2006 Nov 19; 43(11):833-42. PubMed ID: 16825433
    [Abstract] [Full Text] [Related]

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