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A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. Adachi E, et al. Among authors: ohara o. J Clin Endocrinol Metab. 2024 Feb 20;109(3):750-760. doi: 10.1210/clinem/dgad577. J Clin Endocrinol Metab. 2024. PMID: 37804107
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A. Asai E, et al. Among authors: ohara o. Clin Immunol. 2011 Feb;138(2):172-7. doi: 10.1016/j.clim.2010.11.005. Epub 2010 Dec 4. Clin Immunol. 2011. PMID: 21131235
Mutations in Bruton's tyrosine kinase impair IgA responses.
Mitsuiki N, Yang X, Bartol SJ, Grosserichter-Wagener C, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, van der Burg M, van Zelm MC, Ohara O, Morio T. Mitsuiki N, et al. Among authors: ohara o. Int J Hematol. 2015 Mar;101(3):305-13. doi: 10.1007/s12185-015-1732-1. Epub 2015 Jan 15. Int J Hematol. 2015. PMID: 25589397
RAG1 deficiency may present clinically as selective IgA deficiency.
Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S. Kato T, et al. Among authors: ohara o. J Clin Immunol. 2015 Apr;35(3):280-8. doi: 10.1007/s10875-015-0146-4. Epub 2015 Mar 6. J Clin Immunol. 2015. PMID: 25739914
A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.
Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, Morio T, Ohara O, Chayama K, Kobayashi M. Hayakawa S, et al. Among authors: ohara o. J Clin Immunol. 2016 Jan;36(1):28-32. doi: 10.1007/s10875-015-0221-x. Epub 2015 Dec 8. J Clin Immunol. 2016. PMID: 26644313
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.
Sato T, Okano T, Tanaka-Kubota M, Kimura S, Miyamoto S, Ono S, Yamashita M, Mitsuiki N, Takagi M, Imai K, Kajiwara M, Ebato T, Ogata S, Oda H, Ohara O, Kanegane H, Morio T. Sato T, et al. Among authors: ohara o. Pediatr Int. 2016 Oct;58(10):1076-1080. doi: 10.1111/ped.13070. Epub 2016 Sep 4. Pediatr Int. 2016. PMID: 27593409
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H. Kadowaki T, et al. Among authors: ohara o. J Allergy Clin Immunol. 2018 Apr;141(4):1485-1488.e11. doi: 10.1016/j.jaci.2017.10.039. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241730 No abstract available.
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, Morio T. Ono S, et al. Among authors: ohara o. Int J Hematol. 2018 Sep;108(3):319-328. doi: 10.1007/s12185-018-2475-6. Epub 2018 May 18. Int J Hematol. 2018. PMID: 29777376
521 results