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3,268 results

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Page 1
Alu-related 5q35 microdeletions in Sotos syndrome.
Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N. Mochizuki J, et al. Among authors: matsumoto n. Clin Genet. 2008 Oct;74(4):384-91. doi: 10.1111/j.1399-0004.2008.01032.x. Epub 2008 May 25. Clin Genet. 2008. PMID: 18505455
CDKL5 disruption by t(X;18) in a girl with West syndrome.
Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuchi Y, Matsumoto N. Nishimura A, et al. Among authors: matsumoto n. Clin Genet. 2008 Sep;74(3):288-90. doi: 10.1111/j.1399-0004.2008.01048.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18564362 No abstract available.
PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. Imagawa E, et al. Among authors: matsumoto n. Clin Genet. 2018 Oct;94(3-4):362-367. doi: 10.1111/cge.13385. Epub 2018 Jun 26. Clin Genet. 2018. PMID: 29797509
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N. Miyatake S, et al. Among authors: matsumoto n. Neurology. 2012 Mar 13;78(11):803-10. doi: 10.1212/WNL.0b013e318249f71f. Epub 2012 Feb 29. Neurology. 2012. PMID: 22377813
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.
Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N. Tadaki H, et al. Among authors: matsumoto n. Int J Immunogenet. 2011 Aug;38(4):287-93. doi: 10.1111/j.1744-313X.2011.01005.x. Epub 2011 Mar 7. Int J Immunogenet. 2011. PMID: 21382177
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Tsuchida N, et al. Among authors: matsumoto n. Clin Genet. 2018 Feb;93(2):266-274. doi: 10.1111/cge.13061. Epub 2017 Sep 18. Clin Genet. 2018. PMID: 28556953
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N. Hamanaka K, et al. Among authors: matsumoto n. Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21. Clin Genet. 2018. PMID: 29782645 No abstract available.
3,268 results