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9,143 results

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Page 1
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: saito k. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
[Gene mutation and genetic counseling].
Matsuo M, Urano M, Saito K. Matsuo M, et al. Among authors: saito k. Nihon Rinsho. 2009 Jun;67(6):1191-6. Nihon Rinsho. 2009. PMID: 19507513 Japanese.
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
Iguchi M, Hashiguchi A, Ito E, Toda K, Urano M, Shimizu Y, Takeuchi C, Saito K, Takashima H, Uchiyama S. Iguchi M, et al. Among authors: saito k. Muscle Nerve. 2013 Feb;47(2):283-6. doi: 10.1002/mus.23540. Epub 2012 Dec 28. Muscle Nerve. 2013. PMID: 23281072
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H. Kato M, et al. Among authors: saito k. Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621294 Free article.
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Yamamoto T, Mencarelli MA, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F. Yamamoto T, et al. Among authors: saito k. Eur J Med Genet. 2014 Mar;57(4):163-8. doi: 10.1016/j.ejmg.2014.02.001. Epub 2014 Feb 11. Eur J Med Genet. 2014. PMID: 24525055
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: saito k. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670
9,143 results