Ikegawa S - Search Results

1

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: ikegawa s. 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.

2

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y. Ikegawa S, et al. Hum Genet. 1995 Sep;96(3):309-11. doi: 10.1007/BF00210413. Hum Genet. 1995. PMID: 7649548

3

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.

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

Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP).

Nakamura I, Okawa A, Ikegawa S, Takaoka K, Nakamura Y. Nakamura I, et al. Among authors: ikegawa s. J Hum Genet. 1999;44(3):203-5. doi: 10.1007/s100380050143. J Hum Genet. 1999. PMID: 10319588

8

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita Ha. Ghadami M, et al. Among authors: ikegawa s. Am J Hum Genet. 2000 Jan;66(1):143-7. doi: 10.1086/302728. Am J Hum Genet. 2000. PMID: 10631145 Free PMC article.

9

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: ikegawa s. 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

10

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Among authors: ikegawa s. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241

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