Ohtsubo M - Search Results

1

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.

Haque MN, Kurata K, Hosono K, Ohtsubo M, Ohishi K, Sato M, Minoshima S, Hotta Y. Haque MN, et al. Among authors: ohtsubo m. Hum Genome Var. 2019 Apr 12;6:18. doi: 10.1038/s41439-019-0048-8. eCollection 2019. Hum Genome Var. 2019. PMID: 30992995 Free PMC article.

2

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

3

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

4

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

5

Correction to: 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 Jun;66(6):645. doi: 10.1038/s10038-021-00900-6. J Hum Genet. 2021. PMID: 33504884 No abstract available.

6

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

7

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

8

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

9

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Ohtsubo M, Sato M, Hikoya A, Hosono K, Minoshima S, Hotta Y. Ohtsubo M, et al. Jpn J Ophthalmol. 2010 Nov;54(6):624-6. doi: 10.1007/s10384-010-0872-3. Jpn J Ophthalmol. 2010. PMID: 21274678 No abstract available.

10

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Ohtsubo M, Sato M, Hikoya A, Hosono K, Minoshima S, Hotta Y. Ohtsubo M, et al. Jpn J Ophthalmol. 2010 Nov;54(6):624-6. Jpn J Ophthalmol. 2010. PMID: 21348135 No abstract available.

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