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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Inoue T, et al. Among authors: nishioka j. Clin Epigenetics. 2020 Jun 16;12(1):86. doi: 10.1186/s13148-020-00865-x. Clin Epigenetics. 2020. PMID: 32546215 Free PMC article.
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: nishioka j. 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.
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M. Suzuki E, et al. Among authors: nishioka j. Hum Genome Var. 2019 Jan 21;6:7. doi: 10.1038/s41439-019-0039-9. eCollection 2019. Hum Genome Var. 2019. PMID: 30675365 Free PMC article.
204 results