Nishimura G - Search Results

1

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Nishimura G, et al. J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. J Med Genet. 2004. PMID: 14729840 Free PMC article. No abstract available.

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. 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

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. Among authors: nishimura g. Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.

4

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A. Makita Y, et al. Among authors: nishimura g. Am J Med Genet. 2000 Mar 13;91(2):153-6. doi: 10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10748417

5

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. Furuichi T, et al. Among authors: nishimura g. J Med Genet. 2009 Aug;46(8):562-8. doi: 10.1136/jmg.2008.065201. Epub 2009 Jun 8. J Med Genet. 2009. PMID: 19508970 Free PMC article.

6

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Dai J, et al. Among authors: nishimura g. J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577006

7

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

Masuno M, Nishimura G, Adachi M, Hotsubo T, Tachibana K, Makita Y, Imaizumi K, Kuroki Y. Masuno M, et al. Among authors: nishimura g. Am J Med Genet. 1996 Dec 30;66(4):429-32. doi: 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8989461

8

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. Among authors: nishimura g. Hum Genet. 1998 Dec;103(6):633-8. doi: 10.1007/s004390050883. Hum Genet. 1998. PMID: 9921895

9

Metaphyseal anadysplasia: evidence of genetic heterogeneity.

Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T. Nishimura G, et al. 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

10

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y. Nagai T, et al. Among authors: nishimura g. Am J Med Genet. 1995 Jan 2;55(1):16-8. doi: 10.1002/ajmg.1320550106. Am J Med Genet. 1995. PMID: 7702088

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