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Page 1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: miyazaki o. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Evaluation of radiation dose reduction in head CT using the half-dose method.
Nakai Y, Miyazaki O, Kitamura M, Imai R, Okamoto R, Tsutsumi Y, Miyasaka M, Ogiwara H, Miura H, Yamada K, Nosaka S. Nakai Y, et al. Among authors: miyazaki o. Jpn J Radiol. 2023 Aug;41(8):872-881. doi: 10.1007/s11604-023-01410-5. Epub 2023 Mar 24. Jpn J Radiol. 2023. PMID: 36961648 Free PMC article.
"Another inchworm sign" on dynamic contrast-enhanced magnetic resonance imaging in pediatric patients with cystitis cystica and glandularis: Radiologic-pathologic correlation.
Masuoka S, Miyazaki O, Imai A, Okamoto R, Tsutsumi Y, Miyasaka M, Hasegawa Y, Yoshioka T, Nosaka S. Masuoka S, et al. Among authors: miyazaki o. Radiol Case Rep. 2022 Dec 20;18(3):840-843. doi: 10.1016/j.radcr.2022.11.069. eCollection 2023 Mar. Radiol Case Rep. 2022. PMID: 36589501 Free PMC article.
Axial spondylometaphyseal dysplasia: additional reports.
Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Suzuki S, et al. Among authors: miyazaki o. Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910225
Prenatal diagnosis of fetal skeletal dysplasia with 3D CT.
Miyazaki O, Nishimura G, Sago H, Horiuchi T, Hayashi S, Kosaki R. Miyazaki O, et al. Pediatr Radiol. 2012 Jul;42(7):842-52. doi: 10.1007/s00247-012-2381-7. Epub 2012 Apr 25. Pediatr Radiol. 2012. PMID: 22532233
169 results