Association of IL-4 with pachychoroid neovasculopathy

Autor: Takashi Baba, Ayumi Koyama, Ryu Uotani, Hitomi Miyake, Kodai Inata, Shin-ichi Sasaki, Yumiko Shimizu, Yoshitsugu Inoue, Kaori Adachi, Eiji Nanba, Dai Miyazaki

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)

Abstract The purpose of this study was to identify the inflammatory cytokines that were associated with pachychoroid neovasculopathy (PNV). Seventy-five eyes of 75 patients with PNV, 145 eyes of 145 patients with neovascular age-related macular degen

Externí odkaz: https://doaj.org/article/df03cc2526d04523a8be14a868a1ec34

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

Autor: Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, Noriko Kasagi, Noriko Miyake, Naomichi Matsumoto, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki

Publikováno v: Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)

Abstract Epilepsy and white matter abnormality have been reported in DYRK1A-related intellectual disability syndrome; however, the clinical course has yet to be elucidated. Here, we report the clinical course of an 18-year-old male with a novel heter

Externí odkaz: https://doaj.org/article/47378ff7dfce445ea1bd231ae62e863a

Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.

Autor: Tatsuya Kawaguchi, Tohru Okanishi, Tetsuya Okazaki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Yuichi Yoshida, Noriko Miyake, Naomichi Matsumoto, Yoshihiro Maegaki

Publikováno v: Yonago Acta Medica; 2023, Vol. 66 Issue 4, p463-466, 4p

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

Autor: Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, Keisuke Miyako, Masaki Takazawa, Hideo Sasai, Junichi Hosokawa, Sakae Itoga, Tomomi Yamaguchi, Tomoki Kosho, Keiko Matsubara, Yoko Kuroki, Maki Fukami, Kaori Adachi, Eiji Nanba, Naomi Tsuchida, Yuri Uchiyama, Naomichi Matsumoto, Kunihiro Nishimura, Osamu Ohara

Next-generation DNA sequencing (NGS) in short-read mode has been recently used for genetic testing in various clinical settings. NGS data accuracy is crucial in clinical settings, and several reports regarding quality control of NGS data, focusing mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17a232fb9f5c2d15e3965aca59f1c503
https://doi.org/10.1101/2022.11.20.517268

Clinical Characteristics of Fragile X Syndrome Patients in Japan

Autor: Toshiro Maihara, Toshiaki Abe, Eiji Nanba, Emi Shirahata, Tetsuya Okazaki, Kaori Adachi, Madoka Nose, Takeshi Hasegawa, Kaori Matsuura, Yoshihiro Maegaki, Yoshitaka Oyama

Publikováno v: T. Okazaki, K. Adachi, K. Matsuura, et al. Clinical Characteristics of Fragile X Syndrome Patients in Japan. Yonago Acta Medica. 2021, 64(1), 30-33. doi:10.33160/yam.2021.02.005
Yonago Acta Med

[Background] Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a4d109c6285a6a72500af79f026bae
https://repository.lib.tottori-u.ac.jp/11614