BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 28337834)

  • 1. 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]  

  • 2. 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]  

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

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Costello syndrome: Clinical phenotype, genotype, and management guidelines.
    Gripp KW; Morse LA; Axelrad M; Chatfield KC; Chidekel A; Dobyns W; Doyle D; Kerr B; Lin AE; Schwartz DD; Sibbles BJ; Siegel D; Shankar SP; Stevenson DA; Thacker MM; Weaver KN; White SM; Rauen KA
    Am J Med Genet A; 2019 Sep; 179(9):1725-1744. PubMed ID: 31222966
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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
    [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. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [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. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
    Alfieri P; Caciolo C; Piccini G; D'Elia L; Valeri G; Menghini D; Tartaglia M; Digilio MC; Dallapiccola B; Vicari S
    Am J Med Genet B Neuropsychiatr Genet; 2015 Jan; 168B(1):66-71. PubMed ID: 25367099
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Germline mutations in HRAS proto-oncogene cause Costello syndrome.
    Aoki Y; Niihori T; Kawame H; Kurosawa K; Ohashi H; Tanaka Y; Filocamo M; Kato K; Suzuki Y; Kure S; Matsubara Y
    Nat Genet; 2005 Oct; 37(10):1038-40. PubMed ID: 16170316
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
    Robbins KM; Stabley DL; Holbrook J; Sahraoui R; Sadreameli A; Conard K; Baker L; Gripp KW; Sol-Church K
    Am J Med Genet A; 2016 Dec; 170(12):3197-3206. PubMed ID: 27589201
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.