BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 22495892)

  • 1. Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
    Burkitt-Wright EM; Bradley L; Shorto J; McConnell VP; Gannon C; Firth HV; Park SM; D'Amore A; Munyard PF; Turnpenny PD; Charlton A; Wilson M; Kerr B
    Am J Med Genet A; 2012 May; 158A(5):1102-10. PubMed ID: 22495892
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.
    Choi N; Ko JM; Shin SH; Kim EK; Kim HS; Song MK; Choi CW
    Cytogenet Genome Res; 2019; 158(4):184-191. PubMed ID: 31394527
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Respiratory system involvement in Costello syndrome.
    Gomez-Ospina N; Kuo C; Ananth AL; Myers A; Brennan ML; Stevenson DA; Bernstein JA; Hudgins L
    Am J Med Genet A; 2016 Jul; 170(7):1849-57. PubMed ID: 27102959
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
    Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
    Estep AL; Tidyman WE; Teitell MA; Cotter PD; Rauen KA
    Am J Med Genet A; 2006 Jan; 140(1):8-16. PubMed ID: 16372351
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.