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Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Saitou H, Kitaoka T, Kubota T, Kanno J, Mochizuki H, Michigami T, Hasegawa K, Fujiwara I, Hamajima T, Harada D, Seki Y, Nagasaki K, Dateki S, Namba N, Tokuoka H, Pimenta JM, Cohen S, Ozono K. Saitou H, et al. Among authors: seki y. Am J Med Genet A. 2024 Aug;194(8):e63612. doi: 10.1002/ajmg.a.63612. Epub 2024 Mar 30. Am J Med Genet A. 2024. PMID: 38554024
Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.
Ohata Y, Kakimoto H, Seki Y, Ishihara Y, Nakano Y, Yamamoto K, Takeyari S, Fujiwara M, Kitaoka T, Takakuwa S, Kubota T, Ozono K. Ohata Y, et al. Among authors: seki y. Bone Rep. 2022 Nov 10;17:101637. doi: 10.1016/j.bonr.2022.101637. eCollection 2022 Dec. Bone Rep. 2022. PMID: 36407415 Free PMC article.
Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.
Okumura A, Atsushi Ishii, Shimojima K, Kurahashi H, Yoshitomi S, lmai K, Imamura M, Seki Y, Toshiaki Shimizu T, Hirose S, Yamamoto T. Okumura A, et al. Among authors: seki y. Epileptic Disord. 2015 Jun;17(2):165-71. doi: 10.1684/epd.2015.0746. Epileptic Disord. 2015. PMID: 26030193 Free article.
Clinical practice guidelines for management of disseminated intravascular coagulation in Japan 2024. Part 3: solid cancers and vascular abnormalities.
Seki Y, Okamoto K, Ikezoe T, Yamakawa K, Madoiwa S, Uchiyama T, Asakura H, Yamada S, Koga S, Ishikura H, Ito T, Iba T, Uchiba M, Kawasaki K, Kawano N, Gando S, Kushimoto S, Sakamoto Y, Tamura T, Nishio K, Hayakawa M, Matsumoto T, Mayumi T, Wada H; Committee of the Clinical Practice Guidelines for Disseminated Intravascular Coagulation 2024, the Japanese Society on Thrombosis and Hemostasis. Seki Y, et al. Int J Hematol. 2025 Jan 10. doi: 10.1007/s12185-024-03912-y. Online ahead of print. Int J Hematol. 2025. PMID: 39792236 Review.
1,151 results