BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 18247425)

  • 1. 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]  

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

  • 3. 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]  

  • 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. 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]  

  • 6. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
    Gripp KW; Hopkins E; Serrano A; Leonard NJ; Stabley DL; Sol-Church K
    Am J Med Genet A; 2012 May; 158A(5):1095-101. PubMed ID: 22488832
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
    Gripp KW; Lin AE; Nicholson L; Allen W; Cramer A; Jones KL; Kutz W; Peck D; Rebolledo MA; Wheeler PG; Wilson W; Al-Rahawan MM; Stabley DL; Sol-Church K
    Am J Med Genet A; 2007 Jul; 143A(13):1472-80. PubMed ID: 17551924
    [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. 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]  

  • 10. 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]  

  • 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. Costello syndrome and related disorders.
    Quezada E; Gripp KW
    Curr Opin Pediatr; 2007 Dec; 19(6):636-44. PubMed ID: 18025929
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
    Sol-Church K; Stabley DL; Demmer LA; Agbulos A; Lin AE; Smoot L; Nicholson L; Gripp KW
    Am J Med Genet A; 2009 Mar; 149A(3):315-21. PubMed ID: 19206176
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
    Gripp KW; Lin AE; Stabley DL; Nicholson L; Scott CI; Doyle D; Aoki Y; Matsubara Y; Zackai EH; Lapunzina P; Gonzalez-Meneses A; Holbrook J; Agresta CA; Gonzalez IL; Sol-Church K
    Am J Med Genet A; 2006 Jan; 140(1):1-7. PubMed ID: 16329078
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
    van Steensel MA; Vreeburg M; Peels C; van Ravenswaaij-Arts CM; Bijlsma E; Schrander-Stumpel CT; van Geel M
    Exp Dermatol; 2006 Sep; 15(9):731-4. PubMed ID: 16881968
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.