Ohtsubo M - Search Results

1

Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Kawano T, Wang C, Hotta Y, Sato M, Iwata-Amano E, Hikoya A, Fujita N, Koyama N, Shirai S, Azuma N, Ohtsubo M, Shimizu N, Minoshima S. Kawano T, et al. Among authors: ohtsubo m. J Hum Genet. 2007;52(7):571-574. doi: 10.1007/s10038-007-0153-2. Epub 2007 Jun 14. J Hum Genet. 2007. PMID: 17568989

2

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, Mizuta K, Mineta H, Minoshima S. Nakanishi H, et al. Among authors: ohtsubo m. J Hum Genet. 2010 Dec;55(12):796-800. doi: 10.1038/jhg.2010.115. Epub 2010 Sep 16. J Hum Genet. 2010. PMID: 20844544

3

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S. Nakanishi H, et al. Among authors: ohtsubo m. J Hum Genet. 2011 Jul;56(7):484-90. doi: 10.1038/jhg.2011.45. Epub 2011 May 19. J Hum Genet. 2011. PMID: 21593743

4

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y. Zhao Y, et al. Among authors: ohtsubo m. J Hum Genet. 2014 Sep;59(9):521-8. doi: 10.1038/jhg.2014.65. Epub 2014 Jul 31. J Hum Genet. 2014. PMID: 25078356

5

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.

Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Haque MN, et al. Among authors: ohtsubo m. J Hum Genet. 2021 Feb;66(2):205-214. doi: 10.1038/s10038-020-00836-3. Epub 2020 Sep 9. J Hum Genet. 2021. PMID: 32908217

6

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S. Nakanishi H, et al. Among authors: ohtsubo m. Clin Genet. 2009 Oct;76(4):383-91. doi: 10.1111/j.1399-0004.2009.01257.x. Epub 2009 Sep 8. Clin Genet. 2009. PMID: 19737284

7

MutationView/KMcancerDB: a database for cancer gene mutations.

Shimizu N, Ohtsubo M, Minoshima S. Shimizu N, et al. Among authors: ohtsubo m. Cancer Sci. 2007 Mar;98(3):259-67. doi: 10.1111/j.1349-7006.2007.00405.x. Epub 2007 Jan 12. Cancer Sci. 2007. PMID: 17233812 Free PMC article. Review.

8

KMeyeDB: a graphical database of mutations in genes that cause eye diseases.

Kawamura T, Ohtsubo M, Mitsuyama S, Ohno-Nakamura S, Shimizu N, Minoshima S. Kawamura T, et al. Among authors: ohtsubo m. Hum Mutat. 2010 Jun;31(6):667-74. doi: 10.1002/humu.21240. Hum Mutat. 2010. PMID: 20232414

9

Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S. Nakanishi H, et al. Among authors: ohtsubo m. J Hum Genet. 2010 Oct;55(10):701-3. doi: 10.1038/jhg.2010.83. Epub 2010 Jul 1. J Hum Genet. 2010. PMID: 20596040

10

[Databases for mutations in human diseases].

Minoshima S, Ohtsubo M, Shimizu N. Minoshima S, et al. Among authors: ohtsubo m. Nihon Rinsho. 2010 Aug;68 Suppl 8:150-8. Nihon Rinsho. 2010. PMID: 20979272 Review. Japanese. No abstract available.

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