Ikegawa S - Search Results

1

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: ikegawa s. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016. PLoS One. 2016. PMID: 26974433 Free PMC article.

2

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375).

Nishimura G, Fukushima Y, Ohashi H, Ikegawa S. Nishimura G, et al. Among authors: ikegawa s. Am J Med Genet. 1995 Nov 20;59(3):393-5. doi: 10.1002/ajmg.1320590325. Am J Med Genet. 1995. PMID: 8599370 No abstract available.

3

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)].

Ikegawa S, Ohashi H, Hosoda F, Fukushima Y, Ohki M, Nakamura Y. Ikegawa S, et al. Am J Med Genet. 1998 Jun 5;77(5):356-9. doi: 10.1002/(sici)1096-8628(19980605)77:5<356::aid-ajmg3>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9632164

4

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. Ikegawa S, et al. Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.

5

Metaphyseal anadysplasia: evidence of genetic heterogeneity.

Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T. Nishimura G, et al. Among authors: ikegawa s. Am J Med Genet. 1999 Jan 1;82(1):43-8. doi: 10.1002/(sici)1096-8628(19990101)82:1<43::aid-ajmg9>3.0.co;2-i. Am J Med Genet. 1999. PMID: 9916842

6

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y. Ikegawa S, et al. Hum Genet. 1998 Dec;103(6):633-8. doi: 10.1007/s004390050883. Hum Genet. 1998. PMID: 9921895

7

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y. Ikegawa S, et al. Am J Med Genet. 2000 Oct 2;94(4):300-5. doi: 10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3. Am J Med Genet. 2000. PMID: 11038443 Review.

8

Spondylar dysplasia in type X collagenopathy.

Nishimura G, Manabe N, Kosaki K, Haga N, Ohashi H, Nakamura K, Ikegawa S. Nishimura G, et al. Among authors: ikegawa s. Pediatr Radiol. 2001 Feb;31(2):76-80. doi: 10.1007/s002470000394. Pediatr Radiol. 2001. PMID: 11214689

9

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S. Mabuchi A, et al. Among authors: ikegawa s. Am J Med Genet. 2001 Nov 22;104(2):135-9. doi: 10.1002/ajmg.10067. Am J Med Genet. 2001. PMID: 11746044

10

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.

Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S. Shirahama S, et al. Among authors: ikegawa s. Hum Genet. 2003 Jan;112(1):78-83. doi: 10.1007/s00439-002-0844-x. Epub 2002 Oct 24. Hum Genet. 2003. PMID: 12483303

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