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Page 1
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Murata T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T. Kawai T, et al. Among authors: kobayashi m. Blood. 2012 Jun 7;119(23):5458-66. doi: 10.1182/blood-2011-05-354167. Epub 2012 Apr 19. Blood. 2012. PMID: 22517901 Free article.
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.
Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Okada S, et al. Among authors: kobayashi m. J Med Genet. 2007 Aug;44(8):485-91. doi: 10.1136/jmg.2007.049635. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513528 Free PMC article.
Successful bone marrow transplantation in chronic granulomatous disease.
Miki M, Ono A, Awaya A, Miyagawa S, Onodera R, Kurita E, Hiraoka A, Hidaka F, Mizukami T, Nunoi H, Kobayashi M. Miki M, et al. Among authors: kobayashi m. Pediatr Int. 2009 Dec;51(6):838-41. doi: 10.1111/j.1442-200X.2009.02931.x. Pediatr Int. 2009. PMID: 20158628 No abstract available.
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Shirao K, et al. Among authors: kobayashi m. Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Hum Genet. 2010. PMID: 20376488 Review.
[Hematological malignancies in congenital neutropenia].
Okada S, Nakamura K, Kobayashi M. Okada S, et al. Among authors: kobayashi m. Rinsho Ketsueki. 2010 Jul;51(7):553-8. Rinsho Ketsueki. 2010. PMID: 20693776 Review. Japanese. No abstract available.
12,159 results
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