Biblio

Author Title Type [ Year(Asc)]
Filters: Author is Nishikomori, Ryuta  [Clear All Filters]
2023
Maeda A, Tsuchida N, Uchiyama Y, Horita N, Kobayashi S, Kishimoto M, Kobayashi D, Matsumoto H, Asano T, Migita K, et al. Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome. Rheumatology (Oxford). 2023.
2020
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, et al. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. Clin Chem. 2020.
2019
Shiba T, Tanaka T, Ida H, Watanabe M, Nakaseko H, Osawa M, Shibata H, Izawa K, Yasumi T, Kawasaki Y, et al. Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages. J Allergy Clin Immunol. 2019.
2016
Hiejima E, Nakase H, Matsuura M, Honzawa Y, Higuchi H, Saida S, Umeda K, Hiramatsu H, Adachi S, Izawa K, et al. Diagnostic Accuracy of Endoscopic Features of Pediatric Acute Gastrointestinal Graft-versus-host Disease. Dig Endosc. 2016.
Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, Seki R, Nagahashi A, Osawa M, Asaka I, et al. Pluripotent cell-based phenotypic dissection identifies a high-frequency somatic NLRC4 mutation as a cause of autoinflammation. Arthritis Rheumatol. 2016.
2013
Yoshioka T, Nishikomori R, Hara J, Okada K, Hashii Y, Okafuji I, Nodomi S, Kawai T, Izawa K, Ohnishi H, et al. Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation. J Clin Immunol. 2013.