• 9575 引用
  • 31 h指数
19992020

Research output per year

Pureに変更を加えた場合、すぐここに表示されます。

研究成果

フィルター
Letter
2020

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

Saito, S., Tanaka, R., Sasaki, T., Aoki, S., Yasuhara, R., Nakayama, Y., Nagai, T., Sonobe, H., Ozawa, Y. & Kubo, A., 2020 1 1, : : Journal of Dermatology. 47, 1, p. e18-e20

研究成果: Letter

1 引用 (Scopus)
2019

A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor

Umegaki-Arao, N., Ono, N., Tanaka, R., Sasaki, T., Fujita, H., Shiohama, A., Aoki, S., Amagai, M. & Kubo, A., 2019 1 1, (Accepted/In press) : : British Journal of Dermatology.

研究成果: Letter

Novel gene mutations in Chédiak–Higashi syndrome with hyperpigmentation

Fukuchi, K., Tatsuno, K., Sakaguchi, K., Sano, S., Sasaki, T., Aoki, S., Kubo, A. & Tokura, Y., 2019 1 1, : : Journal of Dermatology.

研究成果: Letter

Recovery of FRI-5 carbapenemase at a Japanese hospital where FRI-4 carbapenemase was discovered

Uwamino, Y., Kubota, H., Sasaki, T., Kosaka, A., Furuhashi, M., Uno, S., Kudoh, J., Murata, M. & Hasegawa, N., 2019 11 1, : : Journal of Antimicrobial Chemotherapy. 74, 11, p. 3390-3392 3 p.

研究成果: Letter

1 引用 (Scopus)
2018

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B

Mukai, M., Fujita, H., Umegaki, N., Sasaki, T., Yasuda-Sekiguchi, F., Isojima, T., Kitanaka, S., Amagai, M. & Kubo, A., 2018 4 1, : : Journal of Dermatological Science. 90, 1, p. 90-93 4 p.

研究成果: Letter

3 引用 (Scopus)

Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin

Ishikawa, K., Furuhashi, M., Sasaki, T., Kudo, J., Tsuchisaka, A., Hashimoto, T., Sasaki, T., Yoshioka, H., Eshima, N., Matsuda-Hirose, H., Sakai, T., Hatano, Y. & Fujiwara, S., 2018 8 1, : : Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

研究成果: Letter

Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation

Tanaka, R., Umegaki, N., Sasaki, T., Aoki, S., Yoshida, K., Niizeki, H. & Kubo, A., 2018 11 1, : : Journal of Dermatology. 45, 11, p. e302-e303

研究成果: Letter

1 引用 (Scopus)
2017

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Kumagai, Y., Umegaki-Arao, N., Sasaki, T., Nakamura, Y., Takahashi, H., Ashida, A., Tsunemi, Y., Kawashima, M., Shimizu, A., Ishiko, A., Nakamura, K., Tsuchihashi, H., Amagai, M. & Kubo, A., 2017 5, : : Journal of the European Academy of Dermatology and Venereology. 31, 5, p. e241-e243

研究成果: Letter

2 引用 (Scopus)
2015

Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation

Kasai, H., Sasaki, T., Matsuzaki, H., Yoshioka, T., Nagao, K., Amagai, M., Ishiko, A. & Kubo, A., 2015 3 1, : : Journal of Dermatology. 42, 3, p. 323-325 3 p.

研究成果: Letter

2 引用 (Scopus)
2014

A Japanese case of Mal de Meleda with SLURP1 mutation

Sakabe, J. I., Kabashima-Kubo, R., Kubo, A., Sasaki, T. & Tokura, Y., 2014 8, : : Journal of Dermatology. 41, 8, p. 764-765 2 p.

研究成果: Letter

5 引用 (Scopus)

The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene

Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Kosaki, K., Ogo, A., Yamada, T., Miyasaka, M., Matsuoka, K., Hirakiyama, A., Okuyama, T., Matsuda, M., Nakabayashi, K., Tanese, K., Ishiko, A., Amagai, M. & Kudoh, J., 2014 9, : : Journal of Dermatological Science. 75, 3, p. 193-195 3 p.

研究成果: Letter

17 引用 (Scopus)

The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype

Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Takeshita, M., Hirakiyama, A., Okuyama, T., Tanese, K., Ishiko, A., Amagai, M. & Kudoh, J., 2014 1 1, : : British Journal of Dermatology. 170, 5, p. 1187-1189 3 p.

研究成果: Letter

15 引用 (Scopus)