Nishino J - Search Results

1

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: nishino j. Mol Vis. 2013 Nov 24;19:2393-406. eCollection 2013. Mol Vis. 2013. PMID: 24319333 Free PMC article.

2

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: nishino j. Ophthalmic Genet. 2015 Jun;36(2):137-44. doi: 10.3109/13816810.2014.991932. Epub 2015 Jan 21. Ophthalmic Genet. 2015. PMID: 25605338

3

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Katagiri S, Hayashi T, Akahori M, Itabashi T, Nishino J, Yoshitake K, Furuno M, Ikeo K, Okada T, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: nishino j. J Ophthalmol. 2014;2014:210947. doi: 10.1155/2014/210947. Epub 2014 Nov 16. J Ophthalmol. 2014. PMID: 25485142 Free PMC article.

4

The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity.

Nishino J, Mano S. Nishino J, et al. Comput Math Methods Med. 2013;2013:179761. doi: 10.1155/2013/179761. Epub 2013 May 14. Comput Math Methods Med. 2013. PMID: 23762180 Free PMC article.

5

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.

Nishiguchi KM, Miya F, Mori Y, Fujita K, Akiyama M, Kamatani T, Koyanagi Y, Sato K, Takigawa T, Ueno S, Tsugita M, Kunikata H, Cisarova K, Nishino J, Murakami A, Abe T, Momozawa Y, Terasaki H, Wada Y, Sonoda KH, Rivolta C, Tsunoda T, Tsujikawa M, Ikeda Y, Nakazawa T. Nishiguchi KM, et al. Among authors: nishino j. Commun Biol. 2021 Jan 29;4(1):140. doi: 10.1038/s42003-021-01662-9. Commun Biol. 2021. PMID: 33514863 Free PMC article.

6

Quantification of multicellular colonization in tumor metastasis using exome-sequencing data.

Nishino J, Watanabe S, Miya F, Kamatani T, Sugawara T, Boroevich KA, Tsunoda T. Nishino J, et al. Int J Cancer. 2020 May 1;146(9):2488-2497. doi: 10.1002/ijc.32910. Epub 2020 Feb 15. Int J Cancer. 2020. PMID: 32020592 Free PMC article.

7

The interaction of a single-nucleotide polymorphism with age on response to interferon-α and ribavirin therapy in female patients with hepatitis C infection.

Nishino J, Sugiyama M, Nishida N, Tokunaga K, Mizokami M, Mano S. Nishino J, et al. J Med Virol. 2014 Jul;86(7):1130-3. doi: 10.1002/jmv.23939. Epub 2014 Apr 1. J Med Virol. 2014. PMID: 24692042

8

Semi-parametric empirical Bayes factor for genome-wide association studies.

Morisawa J, Otani T, Nishino J, Emoto R, Takahashi K, Matsui S. Morisawa J, et al. Among authors: nishino j. Eur J Hum Genet. 2021 May;29(5):800-807. doi: 10.1038/s41431-020-00800-x. Epub 2021 Jan 25. Eur J Hum Genet. 2021. PMID: 33495595 Free PMC article.

9

Re-assessment of multiple testing strategies for more efficient genome-wide association studies.

Otani T, Noma H, Nishino J, Matsui S. Otani T, et al. Among authors: nishino j. Eur J Hum Genet. 2018 Jul;26(7):1038-1048. doi: 10.1038/s41431-018-0125-3. Epub 2018 Mar 9. Eur J Hum Genet. 2018. PMID: 29523830 Free PMC article.

10

Detecting selection using time-series data of allele frequencies with multiple independent reference Loci.

Nishino J. Nishino J. G3 (Bethesda). 2013 Dec 9;3(12):2151-61. doi: 10.1534/g3.113.008276. G3 (Bethesda). 2013. PMID: 24082032 Free PMC article.

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