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Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Maeda A, Tsuchida N, Uchiyama Y, Horita N, Kobayashi S, Kishimoto M, Kobayashi D, Matsumoto H, Asano T, Migita K, Kato A, Mori I, Morita H, Matsubara A, Marumo Y, Ito Y, Machiyama T, Shirai T, Ishii T, Kishibe M, Yoshida Y, Hirata S, Akao S, Higuchi A, Rokutanda R, Nagahata K, Takahashi H, Katsuo K, Ohtani T, Fujiwara H, Nagano H, Hosokawa T, Ito T, Haji Y, Yamaguchi H, Hagino N, Shimizu T, Koga T, Kawakami A, Kageyama G, Kobayashi H, Aoki A, Mizokami A, Takeuchi Y, Motohashi R, Hagiyama H, Itagane M, Teruya H, Kato T, Miyoshi Y, Kise T, Yokogawa N, Ishida T, Umeda N, Isogai S, Naniwa T, Yamabe T, Uchino K, Kanasugi J, Takami A, Kondo Y, Furuhashi K, Saito K, Ohno S, Kishimoto D, Yamamoto M, Fujita Y, Fujieda Y, Araki S, Tsushima H, Misawa K, Katagiri A, Kobayashi T, Hashimoto K, Sone T, Hidaka Y, Ida H, Nishikomori R, Doi H, Fujimaki K, Akasaka K, Amano M, Matsushima H, Kashino K, Ohnishi H, Miwa Y, Takahashi N, Takase-Minegishi K, Yoshimi R, Kirino Y, Nakajima H, Matsumoto N. Maeda A, et al. Among authors: ohnishi h. Rheumatology (Oxford). 2023 Aug 22:kead425. doi: 10.1093/rheumatology/kead425. Online ahead of print. Rheumatology (Oxford). 2023. PMID: 37606963
Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases). Matsuda T, et al. Ann Rheum Dis. 2020 Nov;79(11):1492-1499. doi: 10.1136/annrheumdis-2020-217320. Epub 2020 Jul 9. Ann Rheum Dis. 2020. PMID: 32647028
Multisystem inflammatory syndrome in children (MIS-C) without antecedent clinical symptoms related to COVID-19: The increasing importance of distinguishing MIS-C in patients with Kawasaki disease-like features.
Ozaki M, Hori T, Miwa Y, Yamamoto T, Kubota K, Kawamoto M, Kawamoto N, Ohnishi H. Ozaki M, et al. Among authors: ohnishi h. Mod Rheumatol Case Rep. 2023 Jan 3;7(1):202-204. doi: 10.1093/mrcr/rxac008. Mod Rheumatol Case Rep. 2023. PMID: 35106599 Free PMC article. No abstract available.
Monogenic causes of pigmentary mosaicism.
Saida K, Chong PF, Yamaguchi A, Saito N, Ikehara H, Koshimizu E, Miyata R, Ishiko A, Nakamura K, Ohnishi H, Fujioka K, Sakakibara T, Asada H, Ogawa K, Kudo K, Ohashi E, Kawai M, Abe Y, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Miyake N, Kato M, Kira R, Matsumoto N. Saida K, et al. Among authors: ohnishi h. Hum Genet. 2022 Nov;141(11):1771-1784. doi: 10.1007/s00439-022-02437-w. Epub 2022 May 3. Hum Genet. 2022. PMID: 35503477
A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment.
Tozaki N, Tawada C, Niwa H, Mizutani Y, Shu E, Kawase A, Miwa Y, Ohnishi H, Sasai H, Miyako K, Hosokawa J, Kato A, Kobayashi K, Miyazaki T, Shirakami Y, Shimizu M, Iwata H. Tozaki N, et al. Among authors: ohnishi h. Front Med (Lausanne). 2022 Dec 5;9:1046820. doi: 10.3389/fmed.2022.1046820. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36544501 Free PMC article.
1,526 results