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ホーム > 教育 > 医学部医学科 > 医学科講座等紹介 > 浜松成育医療学講座 > 研究活動

研究活動

  1. Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H.Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. J Hum Genet. 2021 doi: 10.1038/s10038-021-00948-4.
  2. Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021 3;9:631428.
  3. Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. .Clin Genet. 2021;100:40-50.
  4. Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y.Guidelines for the diagnosis and treatment of acute encephalopathy in childhood. Brain Dev. 2021 Jn;43:2-31.
  5. Fuseya Y, Sakurai T, Miyahara JI, Sato K, Kaji S, Saito Y, Takahashi M, Nishino I, Fukuda T, Sugie H, Yamashita H.　Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.　Intern Med. 2020;59:2729-2732.
  6. Ichimoto K, Fujisawa T, Shimura M, Fushimi T, Tajika M, Matsunaga A, Ogawa-Tominaga M, Akiyama N, Naruke Y, Horie H, Fukuda T, Sugie H, Inui A, Murayama K　Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.　Mol Genet Metab Rep. 2020 18;24:100601.
  7. Itamura S, Okanishi T, Arai Y, Nishimura M, Baba S, Ichikawa N, Hirayama Y, Ishihara N, Hiraide T, Ishigaki H, Fukuda T, Otsuki Y, Enoki H, Fujimoto A.Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId. Front Neurol. 2019 20;10:1233.
  8. Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H.Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 2020;63(4):103804.
  9. Tanaka M, Natsume J, Hamano SI, Iyoda K, Kanemura H, Kubota M, Mimaki M, Niijima SI, Tanabe T, Yoshinaga H, Kojimahara N, Komaki H, Sugai K, Fukuda T, Maegaki Y, Sugie H The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan. .Brain Dev. 2020;42:28-34.
  10. Ago Y, Sugie H, Fukuda T, Otsuka H, Sasai H, Nakama M, Abdelkreem E, Fukao T. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.JIMD Rep. 2019 28;48:15-18.