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Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Rauen KA, et al. Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183. Am J Med Genet A. 2010. PMID: 20014119 Free PMC article.
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Lin AE, et al. Among authors: rauen ka. Am J Med Genet A. 2011 Mar;155A(3):486-507. doi: 10.1002/ajmg.a.33857. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344638
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Pierpont ME, et al. Among authors: rauen ka. Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Pediatrics. 2014. PMID: 25180280 Free PMC article. Review.
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.
Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L. Korf B, et al. Among authors: rauen ka. Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900621 Free PMC article.
123 results