Minoshima S - Search Results

1

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: minoshima s. 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

2

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: minoshima s. 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

3

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: minoshima s. 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

4

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: minoshima s. 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

5

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: minoshima s. 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

6

Clinical features of a Japanese case with Bothnia dystrophy.

Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M, Kondo M, Minoshima S, Hotta Y. Nojima K, et al. Among authors: minoshima s. Ophthalmic Genet. 2012 Jun;33(2):83-8. doi: 10.3109/13816810.2011.634877. Epub 2011 Dec 15. Ophthalmic Genet. 2012. PMID: 22171637

7

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.

Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y. Suto K, et al. Among authors: minoshima s. Ophthalmic Genet. 2014 Mar;35(1):25-34. doi: 10.3109/13816810.2013.768673. Epub 2013 Feb 20. Ophthalmic Genet. 2014. PMID: 23421333

8

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: minoshima s. 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

9

Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.

Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta H, Minoshima S, Hotta Y. Nagase Y, et al. Among authors: minoshima s. Semin Ophthalmol. 2018;33(4):560-565. doi: 10.1080/08820538.2017.1340487. Epub 2017 Jul 5. Semin Ophthalmol. 2018. PMID: 28678594

10

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: minoshima s. 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

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