原著2015年

Ito Y, Natsume J, Kidokoro H, Ishihara N, Azuma Y, Tsuji T, Okumura A, Kubota T, Ando N, Saitoh S, Miura K, Negoro T, Watanabe K, Kojima S.  Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasicseizures and late reduced diffusion. Epilepsia 56:1286-93, 2015.
Saitoh S. Clinical, molecular, and neurophysiological features in Angelman syndrome. J Pediatr Epilepsy 4:17-22, 2015.
Takagi M, Kouwaki M, Kawase K, Shinohara H, Hasegawa Y, Yamada T, Fujiwara I, Sawai 7, Nishimura G, Hasegawa T. A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Am J Med Genet A. 2015 Jun 30. doi: 10.1002/ajmg.a.37231. [Epub ahead of print]
Ohashi K, Mizuno Y, Miyachi T, Asai T, Imaeda M, Saitoh S. Concordance of classifications using DSM-5 and DSM-IV-TR criteria for autism spectrum disorder. Pediatr Int 57:1097-100, 2015.
Hori I, Nakaseko H, Kamei M, Nomura T, Iwata N, Ito Y, Saitoh S. Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndrome. Pediatr Int 57:e45-7, 2015
Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kosaki K, Kanemura Y, Tsunoda T. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. Sci Rep 5:9331, 2015.
Ueda H, Sugiura T, Katano K, Matsuhashi M, Kato S, Ito K, Nagasaki R, Kato T, Tsuno NH, Saitoh S. Perinatal management of neonatal alloimmune thrombocytopenia associated with anti-group A antibody. Transfus Med 25:42-6, 2015.
Ito Y, Okuyama T, Ito Y, Kamei M, Nakaguchi T, Sugano K, Kubota Y, Sakamoto N, Saitoh S, Akechi T. Good death for children with cancer: a qualitative study. Jpn J Clin Oncol 45:349-55, 2015.
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. Truncating mutation in NFIA causes brain malformation and urinary tract defects. Hum Genome Var 2:15007, 2015. * Equal contribution.
Kawase K, Nishino I, Sugimoto M, Togawa T, Sugiura T, Kouwaki M, Kibe T, Koyama N, Yokochi K. Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. Brain Dev 37:887-90, 2015.
Shinohara T, Sawada H, Otsuki S, Yodoya N, Kato T, Ohashi H, Zhang E, Saitoh S, Shimpo H, Maruyama K, Komada Y, Mitani Y. Macitentan reverses early obstructive pulmonary vasculopathy in rats: Early intervention in overcoming the survivin-mediated resistance to apoptosis. Am J Physiol Lung Cell Mol Physiol 308:L523-38, 2015
Ajioka I, Jinnou H, Okada K, Sawada M, Saitoh S, Sawamoto K. Enhancement of Neuroblast Migration into the Injured Cerebral Cortex using Laminin-containing Porous Sponge. Tissue Eng Part A 21:193-201, 2015
Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H. Mutations in COG2 Encoding a Subunit of the Conserved Oligomeric Golgi Complex Cause a Congenital Disorder of Glycosylation. Clin Genet 87:455-460, 2015
Goto M, Saito Y, Honda R, Saito T, Sugai K, Matsuda Y, Miyatake C, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Uto C, Kikuchi K, Motoki T, Saitoh S. Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. Brain Dev 37:216-222, 2015
Kawase K, Nishino I, Sugimoto M, Kouwaki M, Koyama N, Yokochi K.
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. Brain Dev 37:265-269, 2015

[記事公開日]2015/03/09
[最終更新日]2017/04/17