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Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: yagasaki h. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Inoue T, et al. Among authors: yagasaki h. J Med Genet. 2019 Jun;56(6):413-418. doi: 10.1136/jmedgenet-2018-105463. Epub 2018 Sep 21. J Med Genet. 2019. PMID: 30242100 Free PMC article.
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. Ogushi K, et al. Among authors: yagasaki h. Cytogenet Genome Res. 2019;158(2):56-62. doi: 10.1159/000500468. Epub 2019 Jun 4. Cytogenet Genome Res. 2019. PMID: 31158835 Free article.
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Kurosaka H, Yamamoto S, Hirasawa K, Yanagishita T, Fujioka K, Yagasaki H, Nagata M, Ishihara Y, Yonei A, Asano Y, Nagata N, Tsujimoto T, Inubushi T, Yamamoto T, Sakai N, Yamashiro T. Kurosaka H, et al. Among authors: yagasaki h. Am J Med Genet A. 2023 Jul;191(7):1984-1989. doi: 10.1002/ajmg.a.63225. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141439
182 results