Ikegawa S - Search Results

1

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

Itoh T, Shirahama S, Nakashima E, Maeda K, Haga N, Kitoh H, Kosaki R, Ohashi H, Nishimura G, Ikegawa S. Itoh T, et al. Among authors: ikegawa s. Am J Med Genet A. 2006 Jun 15;140(12):1280-4. doi: 10.1002/ajmg.a.31292. Am J Med Genet A. 2006. PMID: 16691584

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

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y. Ikegawa S, et al. Hum Mutat. 1997;9(2):131-5. doi: 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9067753

4

Stature and severity in multiple epiphyseal dysplasia.

Haga N, Nakamura K, Takikawa K, Manabe N, Ikegawa S, Kimizuka M. Haga N, et al. Among authors: ikegawa s. J Pediatr Orthop. 1998 May-Jun;18(3):394-7. J Pediatr Orthop. 1998. PMID: 9600570

5

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

6

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.

7

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

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

9

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

10

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene.

Ikegawa S, Masuno M, Kumano Y, Okawa A, Isomura M, Koyama K, Okui K, Makita Y, Sasaki M, Kohdera U, Okuda M, Koyama H, Ohashi H, Tajiri H, Imaizumi K, Nakamura Y. Ikegawa S, et al. Clin Genet. 1999 Jun;55(6):466-72. doi: 10.1034/j.1399-0004.1999.550612.x. Clin Genet. 1999. PMID: 10450865

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