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Journal Abstract Search

604 related items for PubMed ID: 16474404

  • 1. 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; 38(3):294-6. PubMed ID: 16474404
    [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. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 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. Costello syndrome and related disorders.
    Quezada E, Gripp KW.
    Curr Opin Pediatr; 2007 Dec 09; 19(6):636-44. PubMed ID: 18025929
    [Abstract] [Full Text] [Related]

  • 10. 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 09; 45(8):500-6. PubMed ID: 18456719
    [Abstract] [Full Text] [Related]

  • 11. Gene symbol: BRAF. Disease: Cardio-facio-cutaneous syndrome.
    Cave H.
    Hum Genet; 2008 Feb 09; 123(1):108-9. PubMed ID: 18386342
    [No Abstract] [Full Text] [Related]

  • 12. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.
    Med Clin (Barc); 2015 Jan 20; 144(2):67-72. PubMed ID: 25194980
    [Abstract] [Full Text] [Related]

  • 13. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
    Rodriguez-Viciana P, Rauen KA.
    Methods Enzymol; 2008 Jan 20; 438():277-89. PubMed ID: 18413255
    [Abstract] [Full Text] [Related]

  • 14. 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 20; 44(7):e84. PubMed ID: 17601930
    [Abstract] [Full Text] [Related]

  • 15. 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 20; 29(8):992-1006. PubMed ID: 18470943
    [Abstract] [Full Text] [Related]

  • 16. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
    Adachi M, Abe Y, Aoki Y, Matsubara Y.
    Seizure; 2012 Jan 20; 21(1):55-60. PubMed ID: 21871821
    [Abstract] [Full Text] [Related]

  • 17. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
    Armour CM, Allanson JE.
    J Med Genet; 2008 Apr 20; 45(4):249-54. PubMed ID: 18039946
    [Abstract] [Full Text] [Related]

  • 18. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
    Am J Med Genet A; 2017 Sep 20; 173(9):2346-2352. PubMed ID: 28650561
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 28; 41(3):127-31. PubMed ID: 20859831
    [Abstract] [Full Text] [Related]

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