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393 related items for PubMed ID: 17483702

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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 15; 44(12):763-71. PubMed ID: 17704260
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
    Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y.
    J Pediatr Hematol Oncol; 2011 Dec 01; 33(8):e342-6. PubMed ID: 20523244
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 38(3):294-6. PubMed ID: 16474404
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 09; 73(1):62-70. PubMed ID: 18042262
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
    Rodriguez-Viciana P, Rauen KA.
    Methods Enzymol; 2008 Mar 03; 438():277-89. PubMed ID: 18413255
    [Abstract] [Full Text] [Related]

  • 12. 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 03; 45(8):500-6. PubMed ID: 18456719
    [Abstract] [Full Text] [Related]

  • 13. 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; 2008 Aug 03; 29(8):992-1006. PubMed ID: 18470943
    [Abstract] [Full Text] [Related]

  • 14. [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]

  • 15. 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]

  • 16. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
    Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB.
    Clin Genet; 2011 May 19; 79(5):468-74. PubMed ID: 20735442
    [Abstract] [Full Text] [Related]

  • 17. BRAF and MEK mutations make a late entrance.
    Duesbery N, Vande Woude G.
    Sci STKE; 2006 Mar 28; 2006(328):pe15. PubMed ID: 16569817
    [Abstract] [Full Text] [Related]

  • 18. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
    Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.
    Hum Genet; 2002 Oct 28; 111(4-5):421-7. PubMed ID: 12384786
    [Abstract] [Full Text] [Related]

  • 19. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
    Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.
    Pediatr Int; 2010 Aug 28; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 20. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
    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.
    J Med Genet; 2007 Feb 28; 44(2):131-5. PubMed ID: 17056636
    [Abstract] [Full Text] [Related]

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