長崎暁理 (Akari Nagasaki) - マイポータル

基本情報

Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan

Toshifumi Nomura, Masashi Akiyama, Aileen Sandilands, Ikue Nemoto-Hasebe, Kaori Sakai, Akari Nagasaki, Mitsuhito Ota, Hiroo Hata, Alan T. Evans, Colin N. A. Palmer …

JOURNAL OF INVESTIGATIVE DERMATOLOGY 128(6) 1436-1441 2008年6月
Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis

Teruhiko Makino, Akari Nagasaki, Megumi Furuichi, Kotaro Matsui, Hirokazu Watanabe, Daisuke Sawamura, Hiroshi Shimizu, Tadamichi Shimizu

JOURNAL OF DERMATOLOGICAL SCIENCE 48(2) 151-153 2007年11月
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia

Masataka Abe, Daisuke Sawamura, Maki Goto, Hideki Nakamura, Akari Nagasaki, Yukiko Nomura, Hiroyuki Kawasaki, Rieko Isogai, Hiroshi Shimizu

JOURNAL OF DERMATOLOGICAL SCIENCE 47(2) 165-167 2007年8月
DNA-based prenatal exclusion of harlequin ichthyosis.

Yanagi T, Akiyama M, Sago H, Ozawa N, Kosaki R, Sakai K, Nagasaki A, Shimizu H

J. Med. Genet
Clinical and Genetic analysis of Fabry disease: report of 7 cases including 4 heterozygous female patients.

Nagasaki A, Nishie W, Sato K, Oba I, Asada H, Noguchi E, Akitsu H, Sawamura D, Shimizu H

J Dermatol Sci