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Journal Abstract Search

211 related items for PubMed ID: 20425820

  • 1. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
    Gripp KW, Hopkins E, Doyle D, Dobyns WB.
    Am J Med Genet A; 2010 May; 152A(5):1161-8. PubMed ID: 20425820
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
    Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE.
    Am J Med Genet A; 2011 Apr; 155A(4):706-16. PubMed ID: 21438134
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 21834037
    [Abstract] [Full Text] [Related]

  • 5. 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. PubMed ID: 22261753
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  • 7. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
    Hiippala A, Vasilescu C, Tallila J, Alastalo TP, Paetau A, Tyni T, Suomalainen A, Euro L, Ojala T.
    Am J Med Genet A; 2016 Jun; 170(6):1433-8. PubMed ID: 26888048
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  • 9. 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; 173(5):1342-1347. PubMed ID: 28337834
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  • 11. 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; 59(11):573-576. PubMed ID: 27705751
    [Abstract] [Full Text] [Related]

  • 12. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
    Girisha KM, Lewis LE, Phadke SR, Kutsche K.
    Am J Med Genet A; 2010 Nov; 152A(11):2861-4. PubMed ID: 20979192
    [Abstract] [Full Text] [Related]

  • 13. 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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  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 56(10):707-15. PubMed ID: 21850009
    [Abstract] [Full Text] [Related]

  • 16. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
    Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G.
    Clin Genet; 2017 Sep 15; 92(3):332-337. PubMed ID: 28139825
    [Abstract] [Full Text] [Related]

  • 17. Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
    Sheffield BS, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF.
    Pediatr Dev Pathol; 2015 Sep 15; 18(3):237-44. PubMed ID: 25668678
    [Abstract] [Full Text] [Related]

  • 18. Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.
    Calandrelli R, D'Apolito G, Marco P, Zampino G, Tartaglione T, Colosimo C.
    Neuroradiol J; 2015 Jun 15; 28(3):254-8. PubMed ID: 26246091
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 55(11):615-9. PubMed ID: 22926243
    [Abstract] [Full Text] [Related]

  • 20. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
    Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW.
    Am J Med Genet A; 2011 Mar 15; 155A(3):486-507. PubMed ID: 21344638
    [Abstract] [Full Text] [Related]

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