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Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: doyle d. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Normative growth charts for individuals with Costello syndrome.
Sammon MR, Doyle D, Hopkins E, Sol-Church K, Stabley DL, McGready J, Schulze K, Alade Y, Hoover-Fong J, Gripp KW. Sammon MR, et al. Among authors: doyle d. Am J Med Genet A. 2012 Nov;158A(11):2692-9. doi: 10.1002/ajmg.a.35534. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887473
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.
Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L. Rauen KA, et al. Am J Med Genet A. 2008 May 1;146A(9):1205-17. doi: 10.1002/ajmg.a.32276. Am J Med Genet A. 2008. PMID: 18412122 No abstract available.
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. Among authors: doyle d. 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
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Gripp KW, et al. Among authors: doyle d. Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438134 Free PMC article.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Gripp KW, et al. Among authors: doyle d. Am J Med Genet A. 2016 Mar;170(3):559-64. doi: 10.1002/ajmg.a.37471. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26572961 Free PMC article.
Medically actionable comorbidities in adults with Costello syndrome.
Shikany AR, Baker L, Stabley DL, Robbins K, Doyle D, Gripp KW, Weaver KN. Shikany AR, et al. Among authors: doyle d. Am J Med Genet A. 2020 Jan;182(1):130-136. doi: 10.1002/ajmg.a.61394. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680412
1,057 results