A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

by Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi, Fumio Nomura
Published 2017-06-01

Identification of as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age

by Hea-Ji Kim, Sin Weon Yun, Jeong Jin Yu, Kyung Lim Yoon, Kyung-Yil Lee, Hong-Ryang Kil, Gi Beom Kim, Myung-Ki Han, Min Seob Song, Hyoung Doo Lee, Kee Soo Ha, Sejung Sohn, Ryota Ebata, Hiromichi Hamada, Hiroyuki Suzuki, Yoichiro Kamatani, Michiaki Kubo, Kaoru Ito, Yoshihiro Onouchi, Young Mi Hong, Gi Young Jang, Jong-Keuk Lee
Published 2018-06-01

Male-specific association of the FCGR2A His167Arg polymorphism with Kawasaki disease.

by Young-Chang Kwon, Jae-Jung Kim, Sin Weon Yun, Jeong Jin Yu, Kyung Lim Yoon, Kyung-Yil Lee, Hong-Ryang Kil, Gi Beom Kim, Myung-Ki Han, Min Seob Song, Hyoung Doo Lee, Kee-Soo Ha, Sejung Sohn, Ryota Ebata, Hiromichi Hamada, Hiroyuki Suzuki, Kaoru Ito, Yoshihiro Onouchi, Young Mi Hong, Gi Young Jang, Jong-Keuk Lee, Korean Kawasaki Disease Genetics Consortium
Published 2017-01-01

Variations in ORAI1 Gene Associated with Kawasaki Disease.

by Yoshihiro Onouchi, Ryuji Fukazawa, Kenichiro Yamamura, Hiroyuki Suzuki, Nobuyuki Kakimoto, Tomohiro Suenaga, Takashi Takeuchi, Hiromichi Hamada, Takafumi Honda, Kumi Yasukawa, Masaru Terai, Ryota Ebata, Kouji Higashi, Tsutomu Saji, Yasushi Kemmotsu, Shinichi Takatsuki, Kazunobu Ouchi, Fumio Kishi, Tetsushi Yoshikawa, Toshiro Nagai, Kunihiro Hamamoto, Yoshitake Sato, Akihito Honda, Hironobu Kobayashi, Junichi Sato, Shoichi Shibuta, Masakazu Miyawaki, Ko Oishi, Hironobu Yamaga, Noriyuki Aoyagi, Megumi Yoshiyama, Ritsuko Miyashita, Yuji Murata, Akihiro Fujino, Kouichi Ozaki, Tomisaku Kawasaki, Jun Abe, Mitsuru Seki, Tohru Kobayashi, Hirokazu Arakawa, Shunichi Ogawa, Toshiro Hara, Akira Hata, Toshihiro Tanaka
Published 2016-01-01