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Behavioral problems and family distress in tuberous sclerosis complex.
Uematsu M, Numata-Uematsu Y, Aihara Y, Kobayashi T, Fujikawa M, Togashi N, Shiihara T, Ohashi K, Hattori A, Saitoh S, Kure S. Uematsu M, et al. Among authors: hattori a. Epilepsy Behav. 2020 Oct;111:107321. doi: 10.1016/j.yebeh.2020.107321. Epub 2020 Jul 19. Epilepsy Behav. 2020. PMID: 32698109
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: hattori a. Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075689
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Negishi Y, Miya F, Hattori A, Mizuno K, Hori I, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Negishi Y, et al. Among authors: hattori a. Hum Genome Var. 2015 Feb 26;2:15007. doi: 10.1038/hgv.2015.7. eCollection 2015. Hum Genome Var. 2015. PMID: 27081522 Free PMC article.
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
Hamada N, Negishi Y, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata KI. Hamada N, et al. Among authors: hattori a. J Neurochem. 2017 Jan;140(1):82-95. doi: 10.1111/jnc.13878. Epub 2016 Nov 29. J Neurochem. 2017. PMID: 27787898 Free article.
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S. Negishi Y, et al. Among authors: hattori a. BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6. BMC Med Genet. 2017. PMID: 28086757 Free PMC article.
CTCF deletion syndrome: clinical features and epigenetic delineation.
Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S. Hori I, et al. Among authors: hattori a. J Med Genet. 2017 Dec;54(12):836-842. doi: 10.1136/jmedgenet-2017-104854. Epub 2017 Aug 28. J Med Genet. 2017. PMID: 28848059
1,057 results