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

54 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Hashimoto N, Kagitani-Shimono K, Sakai N, Otomo T, Tominaga K, Nabatame S, Mogami Y, Takahashi Y, Imai K, Yanagihara K, Okinaga T, Nagai T, Taniike M, Ozono K. Hashimoto N, et al. Among authors: nabatame s. J Hum Genet. 2011 Dec;56(12):846-51. doi: 10.1038/jhg.2011.115. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011817
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y. Tanigawa J, et al. Among authors: nabatame s. Hum Mutat. 2017 Jul;38(7):805-815. doi: 10.1002/humu.23219. Epub 2017 Apr 20. Hum Mutat. 2017. PMID: 28337824
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: nabatame s. 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
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K. Nabatame S, et al. J Neurol Sci. 2023 Apr 15;447:120597. doi: 10.1016/j.jns.2023.120597. Epub 2023 Mar 2. J Neurol Sci. 2023. PMID: 36965413 Free article.
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
Satomura Y, Bessho K, Nawa N, Kondo H, Ito S, Togawa T, Yano M, Yamano Y, Inoue T, Fukui M, Onuma S, Fukuoka T, Yasuda K, Kimura T, Tachibana M, Kitaoka T, Nabatame S, Ozono K. Satomura Y, et al. Among authors: nabatame s. J Med Case Rep. 2022 Feb 13;16(1):60. doi: 10.1186/s13256-022-03279-w. J Med Case Rep. 2022. PMID: 35151346 Free PMC article.
54 results