Nishimura G - Search Results

1

Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G. Ehara S, et al. Among authors: nishimura g. Eur J Pediatr. 1997 Aug;156(8):627-30. doi: 10.1007/s004310050679. Eur J Pediatr. 1997. PMID: 9266195

2

Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.

Nishimura G, Horiuchi T, Kim OH, Sasamoto Y. Nishimura G, et al. Am J Med Genet. 1997 Dec 12;73(2):132-8. Am J Med Genet. 1997. PMID: 9409862

3

A mild variant of Desbuquois dysplasia.

Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K. Nishimura G, et al. Eur J Pediatr. 1999 Jun;158(6):479-83. doi: 10.1007/s004310051124. Eur J Pediatr. 1999. PMID: 10378396

4

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia.

Nishimura G, Okada T, Tachibana K, Adachi M, Masuno M, Imaizumi K, Aida N. Nishimura G, et al. Eur J Pediatr. 1997 Aug;156(8):631-5. doi: 10.1007/s004310050680. Eur J Pediatr. 1997. PMID: 9266196

5

A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N. Nishimura G, et al. Eur J Pediatr. 1996 Dec;155(12):1040-2. doi: 10.1007/BF02532527. Eur J Pediatr. 1996. PMID: 8956941

6

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Dai J, et al. Among authors: nishimura g. J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577006

7

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. Ikegawa S, et al. Among authors: nishimura g. Am J Hum Genet. 1998 Dec;63(6):1659-62. doi: 10.1086/302158. Am J Hum Genet. 1998. PMID: 9837818 Free PMC article.

8

Spondylar dysplasia in type X collagenopathy.

Nishimura G, Manabe N, Kosaki K, Haga N, Ohashi H, Nakamura K, Ikegawa S. Nishimura G, et al. Pediatr Radiol. 2001 Feb;31(2):76-80. doi: 10.1007/s002470000394. Pediatr Radiol. 2001. PMID: 11214689

9

Osteosclerotic metaphyseal dysplasia.

Nishimura G, Kozlowski K. Nishimura G, et al. Pediatr Radiol. 1993;23(6):450-2. doi: 10.1007/BF02012448. Pediatr Radiol. 1993. PMID: 8255649

10

Generalized metaphyseal modification with cone-shaped epiphyses following long-term administration of 13-cis-retinoic acid.

Nishimura G, Mugishima H, Hirao J, Yamato M. Nishimura G, et al. Eur J Pediatr. 1997 Jun;156(6):432-5. doi: 10.1007/s004310050631. Eur J Pediatr. 1997. PMID: 9208235

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