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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: matsuishi t. 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
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Iwama K, et al. Among authors: matsuishi t. J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842224
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Takata A, et al. Among authors: matsuishi t. Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074. Cell Rep. 2018. PMID: 29346770 Free article.
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii M, Doi H, Hashiguchi S, Matsuishi T, Sakai Y, Iai M, Okubo M, Nakamura H, Takahashi K, Katsumoto A, Tada M, Takeuchi H, Ishikawa T, Miyake N, Saitsu H, Matsumoto N, Tanaka F. Kunii M, et al. Among authors: matsuishi t. J Neurol Sci. 2020 Sep 15;416:117047. doi: 10.1016/j.jns.2020.117047. Epub 2020 Jul 17. J Neurol Sci. 2020. PMID: 32736238
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T. Narumi S, et al. Among authors: matsuishi t. Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177. Am J Med Genet A. 2010. PMID: 20034086
361 results