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Journal Abstract Search


319 related items for PubMed ID: 16372351

  • 1. 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 01; 140(1):8-16. PubMed ID: 16372351
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  • 5. 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 01; 143A(13):1472-80. PubMed ID: 17551924
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  • 9. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.
    Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.
    Pediatr Int; 2010 Aug 01; 52(4):557-62. PubMed ID: 20030748
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  • 10. HRAS and the Costello syndrome.
    Rauen KA.
    Clin Genet; 2007 Feb 01; 71(2):101-8. PubMed ID: 17250658
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  • 12. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
    Rosenberger G, Meien S, Kutsche K.
    Hum Mutat; 2009 Mar 01; 30(3):352-62. PubMed ID: 19035362
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  • 17. 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 01; 92(3):332-337. PubMed ID: 28139825
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  • 20. 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 15; 146A(6):683-90. PubMed ID: 18247425
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