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659 results

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Page 1
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. Among authors: irving m. 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.
Clinical utility gene card for: 3M syndrome.
Holder-Espinasse M, Irving M, Cormier-Daire V. Holder-Espinasse M, et al. Among authors: irving m. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.32. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364696 Free PMC article. No abstract available.
Clinical utility gene card for: 3-M syndrome - update 2013.
Holder-Espinasse M, Irving M, Cormier-Daire V. Holder-Espinasse M, et al. Among authors: irving m. Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.156. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900270 Free PMC article. No abstract available.
Best practices in peri-operative management of patients with skeletal dysplasias.
White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium. White KK, et al. Among authors: irving m. Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1. Am J Med Genet A. 2017. PMID: 28763154
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.
Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Savarirayan R, et al. Among authors: irving m. Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23. Am J Obstet Gynecol. 2018. PMID: 30048634 Review.
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.
Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Savarirayan R, et al. Among authors: irving m. Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30. Genet Med. 2019. PMID: 30696995 Free article.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. Savarirayan R, et al. Among authors: irving m. N Engl J Med. 2019 Jul 4;381(1):25-35. doi: 10.1056/NEJMoa1813446. Epub 2019 Jun 18. N Engl J Med. 2019. PMID: 31269546 Clinical Trial.
659 results