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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. 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.
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.
Clinical utility gene card for: 3M syndrome.
Holder-Espinasse M, Irving M, Cormier-Daire V. Holder-Espinasse M, et al. 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.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD. Jackson GC, et al. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.
Clinical utility gene card for: 3-M syndrome - update 2013.
Holder-Espinasse M, Irving M, Cormier-Daire V. Holder-Espinasse M, et al. 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.
Craniovertebral junction anomalies in achondroplastic children.
Reina V, Baujat G, Fauroux B, Couloigner V, Boulanger E, Sainte-Rose C, Maroteaux P, Merrer ML, Cormier-Daire V, Legai-Mallet L, Zerah M, Di Rocco F. Reina V, et al. Adv Tech Stand Neurosurg. 2014;40:295-312. doi: 10.1007/978-3-319-01065-6_10. Adv Tech Stand Neurosurg. 2014. PMID: 24265051
Nosology and classification of genetic skeletal disorders: 2015 revision.
Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Bonafe L, et al. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23. Am J Med Genet A. 2015. PMID: 26394607
Central sleep apnea in children: experience at a single center.
Felix O, Amaddeo A, Olmo Arroyo J, Zerah M, Puget S, Cormier-Daire V, Baujat G, Pinto G, Fernandez-Bolanos M, Fauroux B. Felix O, et al. Sleep Med. 2016 Sep;25:24-28. doi: 10.1016/j.sleep.2016.07.016. Epub 2016 Aug 31. Sleep Med. 2016. PMID: 27823711
474 results