Nishimura G - Search Results

1

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: nishimura g. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.

2

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M, Kinoshita A, Niikawa N. Nishimura G, et al. Among authors: nishimura h. Am J Med Genet. 2002 Jan 1;107(1):5-11. doi: 10.1002/ajmg.10079. Am J Med Genet. 2002. PMID: 11807860

3

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T. Ogata T, et al. Among authors: nishimura g. J Clin Endocrinol Metab. 2002 Mar;87(3):1390-4. doi: 10.1210/jcem.87.3.8348. J Clin Endocrinol Metab. 2002. PMID: 11889214

4

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.

Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S. Shirahama S, et al. Among authors: nishimura g. Hum Genet. 2003 Jan;112(1):78-83. doi: 10.1007/s00439-002-0844-x. Epub 2002 Oct 24. Hum Genet. 2003. PMID: 12483303

5

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. Among authors: nishimura g. Hum Genet. 2003 Jan;112(1):84-90. doi: 10.1007/s00439-002-0845-9. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12483304

6

Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects.

Kawaji H, Nishimura G, Watanabe S, Mabuchi A, Ikeda T, Ohashi H, Sasaki A, Sano T, Ikegawa S. Kawaji H, et al. Among authors: nishimura g. Skeletal Radiol. 2002 Dec;31(12):730-7. doi: 10.1007/s00256-002-0553-5. Epub 2002 Aug 24. Skeletal Radiol. 2002. PMID: 12483437

7

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.

Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S. Nishimura G, et al. Am J Med Genet A. 2003 Mar 1;117A(2):147-53. doi: 10.1002/ajmg.a.10927. Am J Med Genet A. 2003. PMID: 12567412

8

Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.

Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T. Nishimura G, et al. Am J Med Genet A. 2003 Aug 1;120A(4):498-502. doi: 10.1002/ajmg.a.20095. Am J Med Genet A. 2003. PMID: 12884428

9

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

10

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

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