Nakashima E - 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. Among authors: nakashima e. 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

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.

Nakashima E, Mabuchi A, Kashimada K, Onishi T, Zhang J, Ohashi H, Nishimura G, Ikegawa S. Nakashima E, et al. Am J Med Genet A. 2003 Dec 15;123A(3):253-6. doi: 10.1002/ajmg.a.20281. Am J Med Genet A. 2003. PMID: 14608646

3

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.

Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, Ikegawa S. Nakashima E, et al. Am J Med Genet A. 2005 Jan 15;132A(2):181-4. doi: 10.1002/ajmg.a.30411. Am J Med Genet A. 2005. PMID: 15551337

4

Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.

Nakashima E, Ikegawa S, Ohashi H, Kimizuka M, Nishimura G. Nakashima E, et al. Am J Med Genet A. 2005 Feb 15;133A(1):106-7. doi: 10.1002/ajmg.a.30481. Am J Med Genet A. 2005. PMID: 15633184 No abstract available.

5

Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.

Maeda K, Nakashima E, Horikoshi T, Mabuchi A, Ikegawa S. Maeda K, et al. Among authors: nakashima e. Am J Med Genet A. 2005 Jul 30;136(3):285-6. doi: 10.1002/ajmg.a.30832. Am J Med Genet A. 2005. PMID: 15948199 No abstract available.

6

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: nakashima e. 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

7

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S. Nakashima E, et al. Hum Genet. 2004 Mar;114(4):345-8. doi: 10.1007/s00439-004-1081-2. Epub 2004 Jan 29. Hum Genet. 2004. PMID: 14749921

8

Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.

Nakashima E, Mabuchi A, Kubota M, Ishikiriyama S, Ohashi H, Nishimura G, Ikegawa S. Nakashima E, et al. Am J Med Genet A. 2005 Jan 1;132A(1):108-9. doi: 10.1002/ajmg.a.30348. Am J Med Genet A. 2005. PMID: 15523619 No abstract available.

9

The phenotypic spectrum of COL2A1 mutations.

Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. Nishimura G, et al. Among authors: nakashima e. Hum Mutat. 2005 Jul;26(1):36-43. doi: 10.1002/humu.20179. Hum Mutat. 2005. PMID: 15895462

10

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S. Miyamoto Y, et al. Among authors: nakashima e. Hum Genet. 2005 Nov;118(2):175-8. doi: 10.1007/s00439-005-0058-0. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16189708

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