Mabuchi A - 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: mabuchi a. 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. Among authors: mabuchi a. 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

Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.

Mabuchi A, Momohara S, Ohashi H, Takatori Y, Haga N, Nishimura G, Ikegawa S. Mabuchi A, et al. Am J Med Genet A. 2004 Aug 15;129A(1):35-8. doi: 10.1002/ajmg.a.30164. Am J Med Genet A. 2004. PMID: 15266613

4

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. Among authors: mabuchi a. 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

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: mabuchi a. 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

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. Among authors: mabuchi a. Hum Genet. 2004 Mar;114(4):345-8. doi: 10.1007/s00439-004-1081-2. Epub 2004 Jan 29. Hum Genet. 2004. PMID: 14749921

7

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. Among authors: mabuchi a. 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.

8

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. Am J Med Genet. 2001 Nov 22;104(2):135-9. doi: 10.1002/ajmg.10067. Am J Med Genet. 2001. PMID: 11746044

9

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S. Mabuchi A, et al. Hum Mutat. 2004 Nov;24(5):439-40. doi: 10.1002/humu.9286. Hum Mutat. 2004. PMID: 15459972

10

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S. Mabuchi A, et al. Hum Genet. 2003 Jan;112(1):84-90. doi: 10.1007/s00439-002-0845-9. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12483304

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