Minoshima S - 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: minoshima s. 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 OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.

Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, Miyake Y, Hotta Y, Minoshima S. Wang C, et al. Among authors: minoshima s. Hum Genome Var. 2016 May 26;3:16011. doi: 10.1038/hgv.2016.11. eCollection 2016. Hum Genome Var. 2016. PMID: 27274860 Free PMC article.

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: 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

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: 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

5

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.

Hosono K, Harada Y, Kurata K, Hikoya A, Sato M, Minoshima S, Hotta Y. Hosono K, et al. Among authors: minoshima s. J Ophthalmol. 2015;2015:693468. doi: 10.1155/2015/693468. Epub 2015 May 13. J Ophthalmol. 2015. PMID: 26097748 Free PMC article.

6

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y. Kurata K, et al. Among authors: minoshima s. Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17. Jpn J Ophthalmol. 2018. PMID: 29666954

7

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Hosono K, et al. Among authors: minoshima s. Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z. Sci Rep. 2018. PMID: 29844330 Free PMC article.

8

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

9

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

10

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

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