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The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL Jr, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N. Gripp KW, et al. Am J Med Genet A. 2020 Mar;182(3):597-606. doi: 10.1002/ajmg.a.61434. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825160 Free PMC article.
Sex bias in autism spectrum disorder in neurofibromatosis type 1.
Garg S, Heuvelman H, Huson S, Tobin H, Green J; Northern UK NF1 Research Network. Garg S, et al. J Neurodev Disord. 2016 Jul 26;8:26. doi: 10.1186/s11689-016-9159-4. eCollection 2016. J Neurodev Disord. 2016. PMID: 27516813 Free PMC article.
Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).
Stivaros S, Garg S, Tziraki M, Cai Y, Thomas O, Mellor J, Morris AA, Jim C, Szumanska-Ryt K, Parkes LM, Haroon HA, Montaldi D, Webb N, Keane J, Castellanos FX, Silva AJ, Huson S, Williams S, Gareth Evans D, Emsley R, Green J; SANTA Consortium. Stivaros S, et al. Mol Autism. 2018 Feb 22;9:12. doi: 10.1186/s13229-018-0190-z. eCollection 2018. Mol Autism. 2018. PMID: 29484149 Free PMC article. Clinical Trial.
Perceived fatigue in children and young adults with neurofibromatosis type 1.
Vassallo G, Mughal Z, Robinson L, Weisberg D, Roberts SA, Hupton E, Eelloo J, Burkitt Wright EM, Garg S, Lewis L, Evans DG, Stivaros SM. Vassallo G, et al. J Paediatr Child Health. 2020 Jun;56(6):878-883. doi: 10.1111/jpc.14764. Epub 2020 Jan 9. J Paediatr Child Health. 2020. PMID: 31916647
A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.
Murphy C, Vassallo G, Burkitt-Wright E, Hupton E, Eelloo J, Lewis L, Huson S, Stivaros S, Kamaly-Asl I. Murphy C, et al. Clin Neurol Neurosurg. 2020 Jun;193:105791. doi: 10.1016/j.clineuro.2020.105791. Epub 2020 Mar 19. Clin Neurol Neurosurg. 2020. PMID: 32208299
52 results