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Journal Abstract Search

759 related items for PubMed ID: 19935936

  • 1. [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]

  • 2. 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]

  • 3. 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 09; 29(8):992-1006. PubMed ID: 18470943
    [Abstract] [Full Text] [Related]

  • 4. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
    Lee ST, Ki CS, Lee HJ.
    Clin Genet; 2007 Aug 09; 72(2):150-5. PubMed ID: 17661820
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 44(12):763-71. PubMed ID: 17704260
    [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 09; 52(4):557-62. PubMed ID: 20030748
    [Abstract] [Full Text] [Related]

  • 7. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
    Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB.
    Horm Res; 2009 Aug 09; 71(4):185-93. PubMed ID: 19258709
    [Abstract] [Full Text] [Related]

  • 8. Noonan syndrome, the Ras-MAPK signalling pathway and short stature.
    Binder G.
    Horm Res; 2009 Apr 09; 71 Suppl 2():64-70. PubMed ID: 19407499
    [Abstract] [Full Text] [Related]

  • 9. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
    Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.
    Rev Esp Cardiol (Engl Ed); 2012 May 09; 65(5):447-55. PubMed ID: 22465605
    [Abstract] [Full Text] [Related]

  • 10. 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 09; 44(2):131-5. PubMed ID: 17056636
    [Abstract] [Full Text] [Related]

  • 11. No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes.
    Neri G, Allanson J, Kavamura MI.
    J Med Genet; 2008 Dec 09; 45(12):832. PubMed ID: 19047498
    [No Abstract] [Full Text] [Related]

  • 12. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
    Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y.
    Hum Mutat; 2010 Mar 09; 31(3):284-94. PubMed ID: 20052757
    [Abstract] [Full Text] [Related]

  • 13. Hyperactive Ras in developmental disorders and cancer.
    Schubbert S, Shannon K, Bollag G.
    Nat Rev Cancer; 2007 Apr 09; 7(4):295-308. PubMed ID: 17384584
    [Abstract] [Full Text] [Related]

  • 14. Deregulated Ras signaling in developmental disorders: new tricks for an old dog.
    Schubbert S, Bollag G, Shannon K.
    Curr Opin Genet Dev; 2007 Feb 09; 17(1):15-22. PubMed ID: 17208427
    [Abstract] [Full Text] [Related]

  • 15. 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 09; 29(5):287-90. PubMed ID: 17483702
    [Abstract] [Full Text] [Related]

  • 16. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
    Zenker M.
    Curr Opin Pediatr; 2011 Aug 09; 23(4):443-51. PubMed ID: 21750428
    [Abstract] [Full Text] [Related]

  • 17. Genetic and pathogenetic aspects of Noonan syndrome and related disorders.
    Zenker M.
    Horm Res; 2009 Dec 09; 72 Suppl 2():57-63. PubMed ID: 20029240
    [Abstract] [Full Text] [Related]

  • 18. 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 09; 41(3):127-31. PubMed ID: 20859831
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Clinical and molecular aspects of RAS related disorders.
    Denayer E, de Ravel T, Legius E.
    J Med Genet; 2008 Nov 09; 45(11):695-703. PubMed ID: 18550698
    [Abstract] [Full Text] [Related]

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