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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Costantini A, et al. Among authors: kim oh. J Bone Miner Res. 2021 Feb;36(2):283-297. doi: 10.1002/jbmr.4177. Epub 2020 Oct 13. J Bone Miner Res. 2021. PMID: 32916022 Free PMC article.
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ. Min BJ, et al. Among authors: kim hw, kim ji, kim dh, kim d, kim n, kim oh, kim j. Am J Hum Genet. 2011 Dec 9;89(6):760-6. doi: 10.1016/j.ajhg.2011.10.015. Am J Hum Genet. 2011. PMID: 22152677 Free PMC article.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. Cho SY, et al. Among authors: kim nkd, kim d, kim oh. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236923 Free PMC article.
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S. Wang Z, et al. Among authors: kim oh. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016. PLoS One. 2016. PMID: 26974433 Free PMC article.
506 results