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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J 3rd, Saal H, Harmatz P, Burren C, Gotway G, Cho T, Muslimova E, Weng R, Rogoff D, Hoover-Fong J, Irving M. Savarirayan R, et al. Ther Adv Musculoskelet Dis. 2022 Mar 21;14:1759720X221084848. doi: 10.1177/1759720X221084848. eCollection 2022. Ther Adv Musculoskelet Dis. 2022. PMID: 35342457 Free PMC article.
Medial temporal lobe dysgenesis in hypochondroplasia.
Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. Am J Med Genet A. 2005 Nov 1;138(4):389-91. doi: 10.1002/ajmg.a.30974. Am J Med Genet A. 2005. PMID: 16222682
Clinical phenotypes associated with type II collagen mutations.
Kannu P, Bateman J, Savarirayan R. Kannu P, et al. Among authors: savarirayan r. J Paediatr Child Health. 2012 Feb;48(2):E38-43. doi: 10.1111/j.1440-1754.2010.01979.x. Epub 2011 Feb 18. J Paediatr Child Health. 2012. PMID: 21332586 Review.
International guidelines for the management and treatment of Morquio A syndrome.
Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R. Hendriksz CJ, et al. Among authors: savarirayan r. Am J Med Genet A. 2015 Jan;167A(1):11-25. doi: 10.1002/ajmg.a.36833. Epub 2014 Oct 24. Am J Med Genet A. 2015. PMID: 25346323 Free PMC article. Review.
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?".
White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M. White KK, et al. Among authors: savarirayan r. Am J Med Genet A. 2016 Apr;170A(4):1101-3. doi: 10.1002/ajmg.a.37546. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754314 No abstract available.
216 results