Nishimura G - Search Results

1

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, König R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafé L. Boyden ED, et al. Among authors: nishimura g. Am J Hum Genet. 2011 Dec 9;89(6):767-72. doi: 10.1016/j.ajhg.2011.10.016. Am J Hum Genet. 2011. PMID: 22152678 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

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

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