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Items: 19

1.

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.

Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M, Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y.

Am J Med Genet A. 2020 Mar 27. doi: 10.1002/ajmg.a.61575. [Epub ahead of print]

PMID:
32220057
2.

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group.

Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3.

3.

Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Katagiri S, Hosono K, Hayashi T, Murai N, Wake E, Miyata I, Mizobuchi K, Kurata K, Matsuura T, Nakano T, Hotta Y.

Doc Ophthalmol. 2020 Jan 29. doi: 10.1007/s10633-020-09752-5. [Epub ahead of print]

PMID:
31997113
4.

Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Miyamichi D, Nishina S, Hosono K, Yokoi T, Kurata K, Sato M, Hotta Y, Azuma N.

Hum Genome Var. 2019 Jun 27;6:32. doi: 10.1038/s41439-019-0064-8. eCollection 2019.

5.

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.

Doc Ophthalmol. 2020 Apr;140(2):147-157. doi: 10.1007/s10633-019-09727-1. Epub 2019 Oct 3.

PMID:
31583501
6.

Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.

Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.

Ophthalmology. 2019 Nov;126(11):1557-1566. doi: 10.1016/j.ophtha.2019.05.027. Epub 2019 Jun 6.

PMID:
31257036
7.

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.

Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH.

J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17.

PMID:
31213501
8.

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.

Hum Genome Var. 2019 Apr 12;6:18. doi: 10.1038/s41439-019-0048-8. eCollection 2019.

9.

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y.

Int J Mol Sci. 2019 Mar 26;20(6). pii: E1518. doi: 10.3390/ijms20061518.

10.

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Kurata K, Hosono K, Hotta Y.

Doc Ophthalmol. 2018 Aug;137(1):47-56. doi: 10.1007/s10633-018-9649-7. Epub 2018 Jul 19.

PMID:
30027431
11.

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.

Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z.

12.

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y.

Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018.

13.

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.

Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17.

PMID:
29666954
14.

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.

Kurata K, Hosono K, Hotta Y.

Jpn J Ophthalmol. 2018 Mar;62(2):186-193. doi: 10.1007/s10384-017-0560-7. Epub 2018 Jan 5.

PMID:
29305715
15.

Nisin-induced expression of recombinant T cell epitopes of major Japanese cedar pollen allergens in Lactococcus lactis.

Van Hoang V, Ochi T, Kurata K, Arita Y, Ogasahara Y, Enomoto K.

Appl Microbiol Biotechnol. 2018 Jan;102(1):261-268. doi: 10.1007/s00253-017-8579-8. Epub 2017 Nov 2.

PMID:
29094185
16.

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.

Semin Ophthalmol. 2018;33(4):560-565. doi: 10.1080/08820538.2017.1340487. Epub 2017 Jul 5.

PMID:
28678594
17.

Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness.

Kurata K, Hosono K, Hotta Y.

Case Rep Ophthalmol. 2017 Apr 10;8(1):237-244. doi: 10.1159/000462961. eCollection 2017 Jan-Apr.

18.

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.

J Ophthalmol. 2015;2015:693468. doi: 10.1155/2015/693468. Epub 2015 May 13.

19.

Expression of recombinant T-cell epitopes of major Japanese cedar pollen allergens fused with cholera toxin B subunit in Escherichia coli.

Hoang VV, Zou Y, Kurata K, Enomoto K.

Protein Expr Purif. 2015 May;109:62-9. doi: 10.1016/j.pep.2015.02.001. Epub 2015 Feb 7.

PMID:
25665505

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