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Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Genet Med. 2022 Dec;24(12):2444-2452. doi: 10.1016/j.gim.2022.08.015. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36107167 Free article.
New mesomelic dysplasia with absent fibulae and triangular tibiae.
Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Savarirayan R, et al. Am J Med Genet. 2000 Sep 4;94(1):59-63. doi: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982484
"Baby rattle" pelvis dysplasia.
Cormier-Daire V, Savarirayan R, Lachman RS, Neidich JA, Grace K, Rimoin DL, Wilcox WR. Cormier-Daire V, et al. Among authors: savarirayan r. Am J Med Genet. 2001 Apr 15;100(1):37-42. Am J Med Genet. 2001. PMID: 11337746
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.
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. Among authors: savarirayan r. 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
216 results