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246 results

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Page 1
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: takata a. Eur J Hum Genet. 2024 Dec;32(12):1551-1558. doi: 10.1038/s41431-023-01335-7. Epub 2023 Mar 27. Eur J Hum Genet. 2024. PMID: 36973392
Association of ANK3 with bipolar disorder confirmed in East Asia.
Takata A, Kim SH, Ozaki N, Iwata N, Kunugi H, Inada T, Ujike H, Nakamura K, Mori N, Ahn YM, Joo EJ, Song JY, Kanba S, Yoshikawa T, Kim YS, Kato T. Takata A, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):312-5. doi: 10.1002/ajmg.b.31164. Epub 2011 Jan 13. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21438140
A population-specific uncommon variant in GRIN3A associated with schizophrenia.
Takata A, Iwayama Y, Fukuo Y, Ikeda M, Okochi T, Maekawa M, Toyota T, Yamada K, Hattori E, Ohnishi T, Toyoshima M, Ujike H, Inada T, Kunugi H, Ozaki N, Nanko S, Nakamura K, Mori N, Kanba S, Iwata N, Kato T, Yoshikawa T. Takata A, et al. Biol Psychiatry. 2013 Mar 15;73(6):532-9. doi: 10.1016/j.biopsych.2012.10.024. Epub 2012 Dec 11. Biol Psychiatry. 2013. PMID: 23237318 Free article.
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
Kasahara T, Ishiwata M, Kakiuchi C, Fuke S, Iwata N, Ozaki N, Kunugi H, Minabe Y, Nakamura K, Iwata Y, Fujii K, Kanba S, Ujike H, Kusumi I, Kataoka M, Matoba N, Takata A, Iwamoto K, Yoshikawa T, Kato T. Kasahara T, et al. Among authors: takata a. Psychiatry Clin Neurosci. 2017 Aug;71(8):518-529. doi: 10.1111/pcn.12496. Epub 2017 Feb 8. Psychiatry Clin Neurosci. 2017. PMID: 27987238 Free article.
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: takata a. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126
A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.
Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N. Uchiyama Y, et al. Among authors: takata a. Br J Haematol. 2018 Jun;181(6):843-847. doi: 10.1111/bjh.14710. Epub 2017 Apr 25. Br J Haematol. 2018. PMID: 28439885 Free article. No abstract available.
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: takata a. Clin Genet. 2018 Feb;93(2):266-274. doi: 10.1111/cge.13061. Epub 2017 Sep 18. Clin Genet. 2018. PMID: 28556953
Detection of copy number variations in epilepsy using exome data.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: takata a. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419
246 results