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Research Output 1999 2019

  • 6535 Citations
  • 30 h-Index
  • 84 Article
  • 6 Letter
  • 2 Chapter
  • 2 Review article
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Letter
2019

Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)

Satake, M., Kudo, K., Sasaki, T., Furue, M. & Kubo, A., 2019 Jan 1, In : Journal of Dermatology.

Research output: Contribution to journalLetter

Chondrodysplasia Punctata
Nonsense Codon

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 Jan 1, In : Journal of Dermatology.

Research output: Contribution to journalLetter

Chediak-Higashi Syndrome
Hyperpigmentation
Mutation
Genes

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., 2019 Jan 1, (Accepted/In press) In : Journal of Dermatology.

Research output: Contribution to journalLetter

Hermanski-Pudlak Syndrome
Hypopigmentation
Hair
Skin
2018
3 Citations (Scopus)

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 Apr 1, In : Journal of Dermatological Science. 90, 1, p. 90-93 4 p.

Research output: Contribution to journalLetter

Nail-Patella Syndrome
Nails
Mutation
Haploinsufficiency
Assays

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 Aug 1, In : Journal of Dermatological Science. 91, 2, p. 228-231 4 p.

Research output: Contribution to journalLetter

epiplakin
1 Citation (Scopus)

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 Nov 1, In : Journal of Dermatology. 45, 11, p. e302-e303

Research output: Contribution to journalLetter

Skin
Mutation
Epidermal Nevus