BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 28455154)

  • 1. 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]  

  • 2. Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
    Sinico M; Bassez G; Touboul C; Cavé H; Vergnaud A; Zirah C; Fleury-Feith J; Gettler S; Vojtek AM; Chevalier N; Amram D; Alsamad IA; Haddad B; Encha-Razavi F
    Pediatr Dev Pathol; 2011; 14(3):218-23. PubMed ID: 20658932
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
    Hartung AM; Swensen J; Uriz IE; Lapin M; Kristjansdottir K; Petersen US; Bang JM; Guerra B; Andersen HS; Dobrowolski SF; Carey JC; Yu P; Vaughn C; Calhoun A; Larsen MR; Dyrskjøt L; Stevenson DA; Andresen BS
    PLoS Genet; 2016 May; 12(5):e1006039. PubMed ID: 27195699
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

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

  • 12. Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.
    Bend EG; Louie RJ; Stevenson RE
    Clin Dysmorphol; 2019 Apr; 28(2):71-73. PubMed ID: 30664540
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
    Gremer L; De Luca A; Merbitz-Zahradnik T; Dallapiccola B; Morlot S; Tartaglia M; Kutsche K; Ahmadian MR; Rosenberger G
    Hum Mol Genet; 2010 Mar; 19(5):790-802. PubMed ID: 19995790
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.
    Liang J; Guo Y; Lu Z; Yu H; Wu L; Yao Z
    J Dermatol; 2022 Jan; 49(1):161-164. PubMed ID: 34601768
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.