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Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: ozaki t. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Kurotaki N, et al. Among authors: ozaki t. Genet Med. 2005 Sep;7(7):479-83. doi: 10.1097/01.gim.0000177419.43309.37. Genet Med. 2005. PMID: 16170239
Serum high-sensitivity C-reactive protein and dementia in a community-dwelling Japanese older population (JPSC-AD).
Tachibana A, Iga JI, Ozaki T, Yoshida T, Yoshino Y, Shimizu H, Mori T, Furuta Y, Shibata M, Ohara T, Hata J, Taki Y, Mikami T, Maeda T, Ono K, Mimura M, Nakashima K, Takebayashi M, Ninomiya T, Ueno SI; JPSC-AD study group. Tachibana A, et al. Among authors: ozaki t. Sci Rep. 2024 Mar 28;14(1):7374. doi: 10.1038/s41598-024-57922-1. Sci Rep. 2024. PMID: 38548879 Free PMC article.
2,044 results