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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: roberts ae. 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 cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. Roberts A, et al. J Med Genet. 2006 Nov;43(11):833-42. doi: 10.1136/jmg.2006.042796. Epub 2006 Jul 6. J Med Genet. 2006. PMID: 16825433 Free PMC article. Review.
Genotype differences in cognitive functioning in Noonan syndrome.
Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Pierpont EI, et al. Among authors: roberts ae. Genes Brain Behav. 2009 Apr;8(3):275-82. doi: 10.1111/j.1601-183X.2008.00469.x. Epub 2008 Dec 11. Genes Brain Behav. 2009. PMID: 19077116 Free PMC article.
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. Among authors: roberts ae. 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.
The language phenotype of children and adolescents with Noonan syndrome.
Pierpont EI, Ellis Weismer S, Roberts AE, Tworog-Dube E, Pierpont ME, Mendelsohn NJ, Seidenberg MS. Pierpont EI, et al. Among authors: roberts ae. J Speech Lang Hear Res. 2010 Aug;53(4):917-32. doi: 10.1044/1092-4388(2009/09-0046). Epub 2010 Jun 11. J Speech Lang Hear Res. 2010. PMID: 20543023 Free PMC article.
Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Romano AA, et al. Among authors: roberts ae. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Pediatrics. 2010. PMID: 20876176 Review.
Learning and memory in children with Noonan syndrome.
Pierpont EI, Tworog-Dube E, Roberts AE. Pierpont EI, et al. Among authors: roberts ae. Am J Med Genet A. 2013 Sep;161A(9):2250-7. doi: 10.1002/ajmg.a.36075. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918208 Free PMC article.
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. 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.
191 results