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Journal Abstract Search

182 related items for PubMed ID: 21495179

  • 1. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.
    Axelrad ME, Schwartz DD, Katzenstein JM, Hopkins E, Gripp KW.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):115-22. PubMed ID: 21495179
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  • 2. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.
    Axelrad ME, Schwartz DD, Fehlis JE, Hopkins E, Stabley DL, Sol-Church K, Gripp KW.
    Am J Med Genet A; 2009 Dec 15; 149A(12):2666-72. PubMed ID: 19919001
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  • 3. 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 15; 22(8):1643-53. PubMed ID: 23335589
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  • 7. 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 15; 167A(9):2085-97. PubMed ID: 25914166
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  • 8. Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
    Pierpont ME, Richards M, Engel WK, Mendelsohn NJ, Summers CG.
    Am J Med Genet A; 2017 May 15; 173(5):1342-1347. PubMed ID: 28337834
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  • 9. Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome.
    Chiu AT, Zhu L, Mok GT, Leung GK, Chow CB, Chung BH.
    Eur J Med Genet; 2016 Nov 15; 59(11):573-576. PubMed ID: 27705751
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  • 10. Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).
    Della Marca G, Leoni C, Dittoni S, Battaglia D, Losurdo A, Testani E, Colicchio S, Gnoni V, Gambardella ML, Mariotti P, Alfieri P, Tartaglia M, Zampino G.
    J Clin Neurophysiol; 2011 Jun 15; 28(3):314-8. PubMed ID: 21633259
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  • 11. A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
    Chiu AT, Leung GK, Chu YW, Gripp KW, Chung BH.
    Am J Med Genet A; 2017 Apr 15; 173(4):1109-1114. PubMed ID: 28328122
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  • 12. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
    Bertola D, Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW.
    Am J Med Genet A; 2017 May 15; 173(5):1309-1318. PubMed ID: 28371260
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  • 14. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
    Gripp KW, Lin AE.
    Genet Med; 2012 Mar 15; 14(3):285-92. PubMed ID: 22261753
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  • 17. Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
    Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K.
    Am J Med Genet A; 2008 Mar 15; 146A(6):683-90. PubMed ID: 18247425
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  • 20. Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.
    Axelrad ME, Glidden R, Nicholson L, Gripp KW.
    Am J Med Genet A; 2004 Aug 01; 128A(4):396-400. PubMed ID: 15264285
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