Nishimura G - Search Results

1

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S. Hiraoka S, et al. Among authors: nishimura g. Nat Med. 2007 Nov;13(11):1363-7. doi: 10.1038/nm1655. Epub 2007 Oct 21. Nat Med. 2007. PMID: 17952091

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

4

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. Among authors: nishimura g. 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

5

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. Among authors: nishimura g. Hum Mutat. 2004 Nov;24(5):439-40. doi: 10.1002/humu.9286. Hum Mutat. 2004. PMID: 15459972

6

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: nishimura g. 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

7

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, Ikegawa S. Maeda K, et al. Among authors: nishimura g. Am J Med Genet A. 2006 Jun 1;140(11):1143-7. doi: 10.1002/ajmg.a.31225. Am J Med Genet A. 2006. PMID: 16642506

8

Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl.

Takata S, Nishimura G, Ikegawa S, Kuroda Y, Nishino M, Matsui Y, Yasui N. Takata S, et al. Among authors: nishimura g. Am J Med Genet A. 2006 Jun 1;140(11):1234-7. doi: 10.1002/ajmg.a.31257. Am J Med Genet A. 2006. PMID: 16691581

9

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Hirose Y, et al. Among authors: nishimura g. J Hum Genet. 2006;51(8):706-710. doi: 10.1007/s10038-006-0015-3. Epub 2006 Jul 11. J Hum Genet. 2006. PMID: 16832578

10

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.

Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: nishimura g. J Hum Genet. 2007;52(5):473-475. doi: 10.1007/s10038-007-0128-3. Epub 2007 Mar 10. J Hum Genet. 2007. PMID: 17351709

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