Below are the most recent publications written about "Costello Syndrome" by people in Profiles.
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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. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744.
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Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients. Am J Med Genet A. 2018 08; 176(8):1711-1722.
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Schwartz DD, Katzenstein JM, Highley EJ, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME. Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. Am J Med Genet A. 2017 May; 173(5):1294-1300.
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Bertola D, Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. Am J Med Genet A. 2017 May; 173(5):1309-1318.
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Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. Am J Med Genet A. 2016 12; 170(12):3197-3206.
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Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. 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. Am J Med Genet A. 2016 Mar; 170(3):559-64.
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Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. Am J Med Genet A. 2015 Sep; 167A(9):2085-97.
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Schwartz DD, Katzenstein JM, Hopkins E, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME. Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory. Am J Med Genet A. 2013 Sep; 161A(9):2258-65.
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Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW. Orthopedic manifestations and implications for individuals with Costello syndrome. Am J Med Genet A. 2013 Aug; 161A(8):1940-9.
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McCormick EM, Hopkins E, Conway L, Catalano S, Hossain J, Sol-Church K, Stabley DL, Gripp KW. Assessing genotype-phenotype correlation in Costello syndrome using a severity score. Genet Med. 2013 Jul; 15(7):554-7.