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Page 1
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Among authors: irving m. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
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 management of achondroplasia.
Wright MJ, Irving MD. Wright MJ, et al. Among authors: irving md. Arch Dis Child. 2012 Feb;97(2):129-34. doi: 10.1136/adc.2010.189092. Epub 2011 Apr 3. Arch Dis Child. 2012. PMID: 21460402 Review.
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.
657 results