Nishimura A - Search Results

1

Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease.

Kasuga K, Shimohata T, Nishimura A, Shiga A, Mizuguchi T, Tokunaga J, Ohno T, Miyashita A, Kuwano R, Matsumoto N, Onodera O, Nishizawa M, Ikeuchi T. Kasuga K, et al. Among authors: nishimura a. J Neurol Neurosurg Psychiatry. 2009 Sep;80(9):1050-2. doi: 10.1136/jnnp.2008.161703. J Neurol Neurosurg Psychiatry. 2009. PMID: 19684239

2

Alu-related 5q35 microdeletions in Sotos syndrome.

Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N. Mochizuki J, et al. Among authors: nishimura a. Clin Genet. 2008 Oct;74(4):384-91. doi: 10.1111/j.1399-0004.2008.01032.x. Epub 2008 May 25. Clin Genet. 2008. PMID: 18505455

3

[Genomic microarray analysis of human diseases].

Nishimura A, Matsumoto N. Nishimura A, et al. Nihon Rinsho. 2010 Aug;68 Suppl 8:235-41. Nihon Rinsho. 2010. PMID: 20976902 Review. Japanese. No abstract available.

4

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.

Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: nishimura a. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380

5

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

Watanabe Y, Sakai H, Nishimura A, Miyake N, Saitsu H, Mizuguchi T, Matsumoto N. Watanabe Y, et al. Among authors: nishimura a. Am J Med Genet A. 2008 Dec 1;146A(23):3070-4. doi: 10.1002/ajmg.a.32567. Am J Med Genet A. 2008. PMID: 19006214

6

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.

Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N. Kawara H, et al. Among authors: nishimura a. Am J Med Genet A. 2006 Feb 15;140(4):373-7. doi: 10.1002/ajmg.a.31094. Am J Med Genet A. 2006. PMID: 16419130

7

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.

Mizuguchi T, Hashimoto R, Itokawa M, Sano A, Shimokawa O, Yoshimura Y, Harada N, Miyake N, Nishimura A, Saitsu H, Sosonkina N, Niikawa N, Kunugi H, Matsumoto N. Mizuguchi T, et al. Among authors: nishimura a. J Hum Genet. 2008;53(10):914-919. doi: 10.1007/s10038-008-0327-6. Epub 2008 Aug 7. J Hum Genet. 2008. PMID: 18685808

8

CDKL5 disruption by t(X;18) in a girl with West syndrome.

Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuchi Y, Matsumoto N. Nishimura A, et al. Clin Genet. 2008 Sep;74(3):288-90. doi: 10.1111/j.1399-0004.2008.01048.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18564362 No abstract available.

9

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: nishimura a. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

10

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: nishimura a. Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11. Nat Genet. 2008. PMID: 18469812

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

1,145 results

Search Page