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285 related items for PubMed ID: 17208427

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

  • 5. Genetic and pathogenetic aspects of Noonan syndrome and related disorders.
    Zenker M.
    Horm Res; 2009 Dec 19; 72 Suppl 2():57-63. PubMed ID: 20029240
    [Abstract] [Full Text] [Related]

  • 6. 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 Dec 19; 71(4):185-93. PubMed ID: 19258709
    [Abstract] [Full Text] [Related]

  • 7. Hyperactive Ras in developmental disorders and cancer.
    Schubbert S, Shannon K, Bollag G.
    Nat Rev Cancer; 2007 Apr 19; 7(4):295-308. PubMed ID: 17384584
    [Abstract] [Full Text] [Related]

  • 8. Germline KRAS mutations cause Noonan syndrome.
    Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP.
    Nat Genet; 2006 Mar 19; 38(3):331-6. PubMed ID: 16474405
    [Abstract] [Full Text] [Related]

  • 9. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
    Bezniakow N, Gos M, Obersztyn E.
    Dev Period Med; 2014 Mar 19; 18(3):285-96. PubMed ID: 25182392
    [Abstract] [Full Text] [Related]

  • 10. 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 19; 72(2):150-5. PubMed ID: 17661820
    [Abstract] [Full Text] [Related]

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

  • 12. Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway.
    Reig I, Boixeda P, Fleta B, Morenoc C, Gámez L, Truchuelo M.
    Dermatol Online J; 2011 Apr 15; 17(4):4. PubMed ID: 21549079
    [Abstract] [Full Text] [Related]

  • 13. Noonan syndrome and related disorders: alterations in growth and puberty.
    Noonan JA.
    Rev Endocr Metab Disord; 2006 Dec 15; 7(4):251-5. PubMed ID: 17177115
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 44(2):131-5. PubMed ID: 17056636
    [Abstract] [Full Text] [Related]

  • 15. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
    Zenker M.
    Curr Opin Pediatr; 2011 Aug 15; 23(4):443-51. PubMed ID: 21750428
    [Abstract] [Full Text] [Related]

  • 16. Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
    Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS.
    Nat Genet; 2007 Jan 15; 39(1):70-4. PubMed ID: 17143285
    [Abstract] [Full Text] [Related]

  • 17. Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.
    Kratz CP, Schubbert S, Bollag G, Niemeyer CM, Shannon KM, Zenker M.
    Cell Cycle; 2006 Aug 15; 5(15):1607-11. PubMed ID: 16921267
    [Abstract] [Full Text] [Related]

  • 18. Costello syndrome and related disorders.
    Quezada E, Gripp KW.
    Curr Opin Pediatr; 2007 Dec 15; 19(6):636-44. PubMed ID: 18025929
    [Abstract] [Full Text] [Related]

  • 19. Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
    Cirstea IC, Gremer L, Dvorsky R, Zhang SC, Piekorz RP, Zenker M, Ahmadian MR.
    Hum Mol Genet; 2013 Jan 15; 22(2):262-70. PubMed ID: 23059812
    [Abstract] [Full Text] [Related]

  • 20. Malignancy in Noonan syndrome and related disorders.
    Smpokou P, Zand DJ, Rosenbaum KN, Summar ML.
    Clin Genet; 2015 Dec 15; 88(6):516-22. PubMed ID: 25683281
    [Abstract] [Full Text] [Related]

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