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Items: 1 to 20 of 121

1.

Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature review.

Mizobuchi K, Hayashi T, Katagiri S, Kim E, Ishiba Y, Watanabe S, Furukawa T, Nakano T.

Doc Ophthalmol. 2020 Apr 1. doi: 10.1007/s10633-020-09764-1. [Epub ahead of print]

PMID:
32239315
2.

RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.

Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T.

Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53.

PMID:
32232344
3.

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
4.

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.

5.

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K, Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K, Yoshitake K, Iwata T, Nakano T, Kusaka S.

Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331.

6.

Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group.

Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020.

7.

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.

Hayashi T, Katagiri S, Mizobuchi K, Yoshitake K, Kameya S, Matsuura T, Iwata T, Nakano T.

Ophthalmic Genet. 2020 Feb;41(1):93-95. doi: 10.1080/13816810.2020.1723119. Epub 2020 Feb 10. No abstract available.

PMID:
32039647
8.

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
9.

Evolutionary dynamics and impacts of chromosome regions carrying R-gene clusters in rice.

Mizuno H, Katagiri S, Kanamori H, Mukai Y, Sasaki T, Matsumoto T, Wu J.

Sci Rep. 2020 Jan 21;10(1):872. doi: 10.1038/s41598-020-57729-w.

10.

Electroretinographic abnormalities associated with pregabalin: a case report.

Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T.

Doc Ophthalmol. 2020 Jan 3. doi: 10.1007/s10633-019-09743-1. [Epub ahead of print]

PMID:
31900741
11.

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.

Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.

Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1.

12.

Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings.

Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y.

Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486.

PMID:
31725168
13.

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Maeda-Katahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K.

Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019.

14.

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.

Mawatari G, Fujinami K, Liu X, Yang L, Yokokawa YF, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group.

Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. Erratum in: Hum Genome Var. 2020 Feb 10;7:3.

15.

Dramatic response of FOLFIRINOX regimen in a collision pancreatic adenocarcinoma patient with a germline BRCA2 mutation: a case report.

Shimmura H, Kuramochi H, Jibiki N, Katagiri S, Nishino T, Araida T.

Jpn J Clin Oncol. 2019 Dec 18;49(11):1049-1054. doi: 10.1093/jjco/hyz141.

PMID:
31612916
16.

The characteristics and risk factors of hepatocellular carcinoma in nonalcoholic fatty liver disease without cirrhosis.

Tobari M, Hashimoto E, Taniai M, Kodama K, Kogiso T, Tokushige K, Yamamoto M, Takayoshi N, Satoshi K, Tatsuo A.

J Gastroenterol Hepatol. 2019 Oct 9. doi: 10.1111/jgh.14867. [Epub ahead of print]

PMID:
31597206
17.

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
18.

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium.

Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650.

PMID:
31390656
19.

SEVERE RECURRENT FIBROVASCULAR PROLIFERATION AFTER COMBINED INTRAVITREAL BEVACIZUMAB INJECTION AND LASER PHOTOCOAGULATION FOR AGGRESSIVE POSTERIOR RETINOPATHY OF PREMATURITY.

Tanaka S, Yokoi T, Katagiri S, Yoshida T, Nishina S, Azuma N.

Retin Cases Brief Rep. 2019 Jul 17. doi: 10.1097/ICB.0000000000000887. [Epub ahead of print]

PMID:
31339872
20.

Longitudinal follow-up of two patients with isolated paracentral acute middle maculopathy.

Nakamura M, Katagiri S, Hayashi T, Aoyagi R, Hasegawa T, Kogure A, Iida T, Nakano T.

Int Med Case Rep J. 2019 May 6;12:143-149. doi: 10.2147/IMCRJ.S196047. eCollection 2019.

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