BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

385 related articles for article (PubMed ID: 17250658)

  • 1. HRAS and the Costello syndrome.
    Rauen KA
    Clin Genet; 2007 Feb; 71(2):101-8. PubMed ID: 17250658
    [TBL] [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; 10():e37. PubMed ID: 19063751
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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; 129(22):2358-61. PubMed ID: 19935936
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Craniofacial and dental development in Costello syndrome.
    Goodwin AF; Oberoi S; Landan M; Charles C; Massie JC; Fairley C; Rauen KA; Klein OD
    Am J Med Genet A; 2014 Jun; 164A(6):1425-30. PubMed ID: 24668879
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 29(8):992-1006. PubMed ID: 18470943
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 18(3):285-96. PubMed ID: 25182392
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
    Tidyman WE; Lee HS; Rauen KA
    Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):104-14. PubMed ID: 21495178
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
    van der Burgt I; Kupsky W; Stassou S; Nadroo A; Barroso C; Diem A; Kratz CP; Dvorsky R; Ahmadian MR; Zenker M
    J Med Genet; 2007 Jul; 44(7):459-62. PubMed ID: 17412879
    [TBL] [Abstract][Full Text] [Related]  

  • 10. HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
    Niihori T; Aoki Y; Okamoto N; Kurosawa K; Ohashi H; Mizuno S; Kawame H; Inazawa J; Ohura T; Arai H; Nabatame S; Kikuchi K; Kuroki Y; Miura M; Tanaka T; Ohtake A; Omori I; Ihara K; Mabe H; Watanabe K; Niijima S; Okano E; Numabe H; Matsubara Y
    J Hum Genet; 2011 Oct; 56(10):707-15. PubMed ID: 21850009
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
    Gripp KW; Sol-Church K; Smpokou P; Graham GE; Stevenson DA; Hanson H; Viskochil DH; Baker LC; Russo B; Gardner N; Stabley DL; Kolbe V; Rosenberger G
    Am J Med Genet A; 2015 Sep; 167A(9):2085-97. PubMed ID: 25914166
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
    Rosenberger G; Meien S; Kutsche K
    Hum Mutat; 2009 Mar; 30(3):352-62. PubMed ID: 19035362
    [TBL] [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; 17(1):15-22. PubMed ID: 17208427
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
    Lorenz S; Lissewski C; Simsek-Kiper PO; Alanay Y; Boduroglu K; Zenker M; Rosenberger G
    Hum Mol Genet; 2013 Apr; 22(8):1643-53. PubMed ID: 23335589
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 23(2):305-11. PubMed ID: 22876591
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe neonatal manifestations of Costello syndrome.
    Lo IF; Brewer C; Shannon N; Shorto J; Tang B; Black G; Soo MT; Ng DK; Lam ST; Kerr B
    J Med Genet; 2008 Mar; 45(3):167-71. PubMed ID: 18039947
    [TBL] [Abstract][Full Text] [Related]  

  • 19. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
    Morcaldi G; Bellini T; Rossi C; Maghnie M; Boccardo F; Bonioli E; Bellini C
    Lymphology; 2015 Sep; 48(3):121-7. PubMed ID: 26939159
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
    Kerr B; Delrue MA; Sigaudy S; Perveen R; Marche M; Burgelin I; Stef M; Tang B; Eden OB; O'Sullivan J; De Sandre-Giovannoli A; Reardon W; Brewer C; Bennett C; Quarell O; M'Cann E; Donnai D; Stewart F; Hennekam R; Cavé H; Verloes A; Philip N; Lacombe D; Levy N; Arveiler B; Black G
    J Med Genet; 2006 May; 43(5):401-5. PubMed ID: 16443854
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.