Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

816 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. Among authors: fukuyama t. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
Functional neuroimaging in Rasmussen syndrome.
Kuki I, Matsuda K, Kubota Y, Fukuyama T, Takahashi Y, Inoue Y, Shintaku H. Kuki I, et al. Among authors: fukuyama t. Epilepsy Res. 2018 Feb;140:120-127. doi: 10.1016/j.eplepsyres.2018.01.001. Epub 2018 Jan 5. Epilepsy Res. 2018. PMID: 29331846
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Hinokuma N, et al. Among authors: fukuyama t. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913952 Free PMC article.
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: fukuyama t. Brain. 2021 May 7;144(4):1103-1117. doi: 10.1093/brain/awab021. Brain. 2021. PMID: 33791773
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: fukuyama t. Brain. 2021 Sep 4;144(8):e67. doi: 10.1093/brain/awab183. Brain. 2021. PMID: 34037746 No abstract available.
816 results