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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
10. HRAS and the Costello syndrome. Rauen KA. Clin Genet; 2007 Feb 01; 71(2):101-8. PubMed ID: 17250658 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]