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Page 1
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: kitajima h. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
Neonatal myocardial infarction due to thrombotic occlusion.
Takeuchi M, Suzuki T, Nakayama M, Kenmochi M, Kitajima H. Takeuchi M, et al. Among authors: kitajima h. J Matern Fetal Neonatal Med. 2006 Feb;19(2):121-3. doi: 10.1080/14767050500324669. J Matern Fetal Neonatal Med. 2006. PMID: 16581610 Free article.
Triple A syndrome in Japan.
Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, Ikeda S, Tanaka T, Hanafusa T, Kitajima H, Kohno H, Nakagawa M, Nakamura Y, Ueno S. Ikeda M, et al. Among authors: kitajima h. Muscle Nerve. 2013 Sep;48(3):381-6. doi: 10.1002/mus.23770. Epub 2013 Jul 17. Muscle Nerve. 2013. PMID: 23861206
344 results