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Page 1
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.
Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G. Ehara S, et al. Among authors: kim oh. Eur J Pediatr. 1997 Aug;156(8):627-30. doi: 10.1007/s004310050679. Eur J Pediatr. 1997. PMID: 9266195
Achondroplasia and enchondromatosis: report of three boys.
Numakura C, Kobayashi H, Hasegawa Y, Adachi M, Kim OH, Nishimura G. Numakura C, et al. Among authors: kim oh. Skeletal Radiol. 2007 Jun;36 Suppl 1:S29-33. doi: 10.1007/s00256-006-0161-x. Epub 2006 Jun 9. Skeletal Radiol. 2007. PMID: 16763840
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. Nishimura G, et al. Among authors: kim oh. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414. Am J Med Genet A. 2010. PMID: 20503319
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S. Dai J, et al. Among authors: kim oh. J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. J Hum Genet. 2010. PMID: 20505684 Review.
524 results