Nishimura G - Search Results

1

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Yagi H, et al. Among authors: nishimura g. Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26788936 No abstract available.

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

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

5

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

6

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

7

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

8

Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB.

Goto T, Aramaki M, Yoshihashi H, Nishimura G, Hasegawa Y, Takahashi T, Ishii T, Fukushima Y, Kosaki K. Goto T, et al. Among authors: nishimura g. Congenit Anom (Kyoto). 2004 Dec;44(4):225-9. doi: 10.1111/j.1741-4520.2004.00043.x. Congenit Anom (Kyoto). 2004. PMID: 15566413

9

Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.

Numakura C, Yamada M, Ariyasu D, Maesaka A, Kobayashi H, Nishimura G, Ikeda M, Hasegawa Y. Numakura C, et al. Among authors: nishimura g. J Bone Miner Metab. 2006;24(1):48-52. doi: 10.1007/s00774-005-0645-0. J Bone Miner Metab. 2006. PMID: 16369898

10

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

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

719 results

Search Page

Filters