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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: ishihara n. 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
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. Yokoi S, et al. Among authors: ishihara n. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. Sci Rep. 2015. PMID: 26493046 Free PMC article.
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Akiyama T, Hyodo Y, Hasegawa K, Oboshi T, Imai K, Ishihara N, Dowa Y, Koike T, Yamamoto T, Shibasaki J, Shimbo H, Fukuyama T, Takano K, Shiraku H, Takeshita S, Okanishi T, Baba S, Kubota M, Hamano SI, Kobayashi K. Akiyama T, et al. Among authors: ishihara n. Pediatr Neurol. 2020 Dec;113:33-41. doi: 10.1016/j.pediatrneurol.2020.08.020. Epub 2020 Sep 2. Pediatr Neurol. 2020. PMID: 32980745 Free article.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG; Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J. Kumar R, et al. Among authors: ishihara n. Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14. Hum Mutat. 2018. PMID: 29851191 Free PMC article.
PET in infancy predicts long-term outcome during adolescence in cryptogenic West syndrome.
Natsume J, Maeda N, Itomi K, Kidokoro H, Ishihara N, Takada H, Okumura A, Kubota T, Miura K, Aso K, Morikawa T, Kato K, Negoro T, Watanabe K. Natsume J, et al. Among authors: ishihara n. AJNR Am J Neuroradiol. 2014 Aug;35(8):1580-5. doi: 10.3174/ajnr.A3899. Epub 2014 Mar 27. AJNR Am J Neuroradiol. 2014. PMID: 24676006 Free PMC article.
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: ishihara n. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
367 results