Nishimura G - Search Results

1

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM. Salian S, et al. Among authors: nishimura g. Am J Med Genet A. 2017 Mar;173(3):588-595. doi: 10.1002/ajmg.a.38064. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127940 Review.

2

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

3

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

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 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

6

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

7

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. Kosho T, et al. Among authors: nishimura g. Am J Med Genet A. 2007 Nov 1;143A(21):2598-603. doi: 10.1002/ajmg.a.31983. Am J Med Genet A. 2007. PMID: 17935239

8

Radiological evolution in IMAGe association: a case report.

Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T. Amano N, et al. Among authors: nishimura g. Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425. Am J Med Genet A. 2008. PMID: 18627061

9

A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S. Kim OH, et al. Among authors: nishimura g. Skeletal Radiol. 2009 Aug;38(8):803-11. doi: 10.1007/s00256-009-0671-4. Epub 2009 Mar 11. Skeletal Radiol. 2009. PMID: 19277648

10

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A. Kim OH, et al. Among authors: nishimura g. Am J Med Genet A. 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347. Am J Med Genet A. 2010. PMID: 20358597

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

708 results

Search Page