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Year Number of Results
2005 1
2006 6
2007 3
2008 2
2009 3
2010 1
2024 0

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15 results

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Page 1
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. Aoki Y, et al. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170316
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.
Enhanced human brain associative plasticity in Costello syndrome.
Dileone M, Profice P, Pilato F, Alfieri P, Cesarini L, Mercuri E, Leoni C, Tartaglia M, Di Iorio R, Zampino G, Di Lazzaro V. Dileone M, et al. J Physiol. 2010 Sep 15;588(Pt 18):3445-56. doi: 10.1113/jphysiol.2010.191072. Epub 2010 Jul 26. J Physiol. 2010. PMID: 20660566 Free PMC article.
Severe neonatal manifestations of Costello syndrome.
Lo IF, Brewer C, Shannon N, Shorto J, Tang B, Black G, Soo MT, Ng DK, Lam ST, Kerr B. Lo IF, et al. J Med Genet. 2008 Mar;45(3):167-71. doi: 10.1136/jmg.2007.054411. Epub 2007 Nov 26. J Med Genet. 2008. PMID: 18039947
15 results