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    Results: 1 to 20 of 75

    1.

    Antioxidant effects of potassium ascorbate with ribose in costello syndrome.

    Anichini C, Lotti F, Pietrini A, Lo Rizzo C, Longini M, Proietti F, Felici C, Buonocore G.

    Anticancer Res. 2013 Feb;33(2):691-5.

    PMID:
    23393369
    [PubMed - indexed for MEDLINE]
    2.

    Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

    Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K.

    Eur J Med Genet. 2012 Nov;55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007. Epub 2012 Aug 7.

    PMID:
    22926243
    [PubMed - indexed for MEDLINE]
    3.

    Peripheral muscle weakness in RASopathies.

    Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA.

    Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.

    PMID:
    22907230
    [PubMed - indexed for MEDLINE]
    4.

    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.

    PMID:
    22876591
    [PubMed - indexed for MEDLINE]
    5.

    A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

    Gripp KW, Bifeld E, Stabley DL, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G.

    Am J Med Genet A. 2012 Sep;158A(9):2106-18. doi: 10.1002/ajmg.a.35449. Epub 2012 Jul 20.

    PMID:
    22821884
    [PubMed - indexed for MEDLINE]
    6.

    RasGRF1 regulates proliferation and metastatic behavior of human alveolar rhabdomyosarcomas.

    Tarnowski M, Schneider G, Amann G, Clark G, Houghton P, Barr FG, Kenner L, Ratajczak MZ, Kucia M.

    Int J Oncol. 2012 Sep;41(3):995-1004. doi: 10.3892/ijo.2012.1536. Epub 2012 Jun 28.

    PMID:
    22752028
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.

    Skórka A, Ciara E, Gieruszczak-Białek D, Pelc M, Kugaudo M, Chrzanowska K, Krajewska-Walasek M.

    Am J Med Genet A. 2012 Jun;158A(6):1486-8. doi: 10.1002/ajmg.a.35320. Epub 2012 Apr 23. No abstract available.

    PMID:
    22528320
    [PubMed - indexed for MEDLINE]
    8.

    Dystonia in Costello syndrome.

    Dileone M, Zampino G, Profice P, Pilato F, Leoni C, Ranieri F, Capone F, Tartaglia M, Brown P, Di Lazzaro V.

    Parkinsonism Relat Disord. 2012 Jul;18(6):798-800. doi: 10.1016/j.parkreldis.2012.03.015. Epub 2012 Apr 15.

    PMID:
    22510203
    [PubMed - indexed for MEDLINE]
    9.

    Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

    Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernández-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX.

    J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

    PMID:
    22499344
    [PubMed - indexed for MEDLINE]
    10.

    Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

    Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.

    Am J Med Genet A. 2012 May;158A(5):1102-10. doi: 10.1002/ajmg.a.35296. Epub 2012 Apr 11.

    PMID:
    22495892
    [PubMed - indexed for MEDLINE]
    11.

    Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

    Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan.

    Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.

    PMID:
    22495831
    [PubMed - indexed for MEDLINE]
    12.

    Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

    Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K.

    Am J Med Genet A. 2012 May;158A(5):1095-101. doi: 10.1002/ajmg.a.35294. Epub 2012 Apr 9.

    PMID:
    22488832
    [PubMed - indexed for MEDLINE]
    13.

    Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

    Goriely A, Wilkie AO.

    Am J Hum Genet. 2012 Feb 10;90(2):175-200. doi: 10.1016/j.ajhg.2011.12.017. Review.

    PMID:
    22325359
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

    Klüppel M, Samavarchi-Tehrani P, Liu K, Wrana JL, Hinek A.

    Eur J Hum Genet. 2012 Aug;20(8):870-7. doi: 10.1038/ejhg.2012.12. Epub 2012 Feb 8.

    PMID:
    22317973
    [PubMed - indexed for MEDLINE]
    15.

    Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

    Gripp KW, Lin AE.

    Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

    PMID:
    22261753
    [PubMed - indexed for MEDLINE]
    16.

    Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

    Siegel DH, Mann JA, Krol AL, Rauen KA.

    Br J Dermatol. 2012 Mar;166(3):601-7. doi: 10.1111/j.1365-2133.2011.10744.x.

    PMID:
    22098123
    [PubMed - indexed for MEDLINE]
    17.

    Retinoblastoma protein modulates the inverse relationship between cellular proliferation and elastogenesis.

    Sen S, Bunda S, Shi J, Wang A, Mitts TF, Hinek A.

    J Biol Chem. 2011 Oct 21;286(42):36580-91. doi: 10.1074/jbc.M111.269944. Epub 2011 Aug 31.

    PMID:
    21880723
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    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. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18.

    PMID:
    21850009
    [PubMed - indexed for MEDLINE]
    19.

    Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

    Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K.

    Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10.

    PMID:
    21834037
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

    Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW.

    J Pediatr. 2011 Dec;159(6):1029-35. doi: 10.1016/j.jpeds.2011.05.024. Epub 2011 Jul 23.

    PMID:
    21784453
    [PubMed - indexed for MEDLINE]

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