These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 22926243)

  • 1. 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. PubMed ID: 22926243
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
    Pelc M; Ciara E; Jezela-Stanek A; Kugaudo M; Cieślikowska A; Jurkiewicz D; Janeczko M; Chrzanowska K; Krajewska-Walasek M; Skórka A
    Clin Dysmorphol; 2017 Apr; 26(2):83-90. PubMed ID: 28027064
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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; 92(3):332-337. PubMed ID: 28139825
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.
    Qian W; Zhang M; Huang H; Chen Y; Park G; Zeng N; Li Y; Lu Q; Luo D
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1690. PubMed ID: 33932139
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
    Quélin C; Loget P; Rozel C; D'Hervé D; Fradin M; Demurger F; Odent S; Pasquier L; Cavé H; Marcorelles P
    Eur J Med Genet; 2017 Jul; 60(7):395-398. PubMed ID: 28455154
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 14. 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; 146A(6):683-90. PubMed ID: 18247425
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 173(4):1109-1114. PubMed ID: 28328122
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.
    Xu F; Wang HJ; Lin ZM; Yu B
    Clin Exp Dermatol; 2015 Jun; 40(4):404-7. PubMed ID: 25677562
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome].
    Laux D; Bajolle F; Maltret A; Bonnet D
    Arch Pediatr; 2011 Oct; 18(10):1087-9. PubMed ID: 21885263
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 18(3):237-44. PubMed ID: 25668678
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 173(5):1309-1318. PubMed ID: 28371260
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.