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Page 1
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: ito s. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: ito s. Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26. Clin Genet. 2016. PMID: 27434533
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Sakamoto M, Sasaki K, Sugie A, Nitta Y, Kimura T, Gürsoy S, Cinleti T, Iai M, Sengoku T, Ogata K, Suzuki A, Okamoto N, Iwama K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Miyatake S, Mizuguchi T, Taguri M, Ito S, Takahashi H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: ito s. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
Screening Cutoff Values for the Detection of Aldosterone-Producing Adenoma by LC-MS/MS and a Novel Noncompetitive CLEIA.
Ono Y, Tezuka Y, Omata K, Morimoto R, Yamazaki Y, Oguro S, Takase K, Ito A, Yoshimi T, Kojima S, Ito S, Sasano H, Suzuki T, Tanaka T, Katagiri H, Satoh F. Ono Y, et al. Among authors: ito s. J Endocr Soc. 2024 Apr 20;8(6):bvae080. doi: 10.1210/jendso/bvae080. eCollection 2024 Apr 6. J Endocr Soc. 2024. PMID: 38715590 Free PMC article.
Deglutition dynamics of patients with obstructive sleep apnea.
Ito S, Aoyagi Y, Hirata M, Ohashi M, Kagaya H, Inada H, Kimura A, Shikano K, Kaneko M, Okano T, Nakata S. Ito S, et al. Fujita Med J. 2024 May;10(2):43-48. doi: 10.20407/fmj.2023-010. Epub 2024 Feb 15. Fujita Med J. 2024. PMID: 38708078 Free PMC article.
Risk of gestational diabetes in women with PCOS based on body mass index: The Japan Environment and Children's Study.
Okoshi C, Kyozuka H, Fukuda T, Yasuda S, Murata T, Isogami H, Sato A, Ogata Y, Hosoya M, Yasumura S, Hashimoto K, Nishigori H, Kamijima M, Yamazaki S, Ohya Y, Kishi R, Yaegashi N, Mori C, Ito S, Yamagata Z, Inadera H, Nakayama T, Sobue T, Shima M, Kageyama S, Suganuma N, Ohga S, Katoh T, Fujimori K, Takahashi T. Okoshi C, et al. Among authors: ito s. J Clin Endocrinol Metab. 2024 May 4:dgae293. doi: 10.1210/clinem/dgae293. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38703083
9,175 results