Nishimura G - Search Results

1

Ischiospinal dysostosis with cystic kidney disease: report of two cases.

Nishimura G, Kim OH, Sato S, Hasegawa T. Nishimura G, et al. Clin Dysmorphol. 2003 Apr;12(2):101-4. doi: 10.1097/00019605-200304000-00005. Clin Dysmorphol. 2003. PMID: 12868471

2

Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.

Fukuzawa R, Sato S, Sullivan MJ, Nishimura G, Hasegawa T, Matsuo N. Fukuzawa R, et al. Among authors: nishimura g. Am J Med Genet. 2002 Nov 15;113(1):93-6. doi: 10.1002/ajmg.10716. Am J Med Genet. 2002. PMID: 12400072

3

Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease.

Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y. Nishimura G, et al. Am J Med Genet A. 2003 Mar 15;117A(3):299-301. doi: 10.1002/ajmg.a.10230. Am J Med Genet A. 2003. PMID: 12599197 No abstract available.

4

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

5

Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child.

Nishimura G, Hasegawa T, Kinoshita E, Tanaka Y, Kurosawa K, Yoshimoto M. Nishimura G, et al. Am J Med Genet A. 2004 Jul 15;128A(2):204-8. doi: 10.1002/ajmg.a.30030. Am J Med Genet A. 2004. PMID: 15214018

6

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: nishimura g. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

7

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.

Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T. Fukami M, et al. Among authors: nishimura g. Pediatr Res. 2006 Feb;59(2):276-80. doi: 10.1203/01.pdr.0000195825.31504.28. Pediatr Res. 2006. PMID: 16439592

8

Achondroplasia and enchondromatosis: report of three boys.

Numakura C, Kobayashi H, Hasegawa Y, Adachi M, Kim OH, Nishimura G. Numakura C, et al. Among authors: nishimura g. Skeletal Radiol. 2007 Jun;36 Suppl 1:S29-33. doi: 10.1007/s00256-006-0161-x. Epub 2006 Jun 9. Skeletal Radiol. 2007. PMID: 16763840

9

Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.

Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y. Hachiya R, et al. Among authors: nishimura g. J Clin Endocrinol Metab. 2007 Oct;92(10):4009-14. doi: 10.1210/jc.2007-1101. Epub 2007 Jul 24. J Clin Endocrinol Metab. 2007. PMID: 17652215

10

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

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