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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: nakamura a. Clin Epigenetics. 2020 Jun 16;12(1):86. doi: 10.1186/s13148-020-00865-x. Clin Epigenetics. 2020. PMID: 32546215 Free PMC article.
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. Shima H, et al. Among authors: nakamura a. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
Goto M, Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K. Goto M, et al. Among authors: nakamura a. Pediatr Int. 2016 Nov;58(11):1229-1231. doi: 10.1111/ped.13096. Pediatr Int. 2016. PMID: 27882740
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.
Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M. Inoue T, et al. Among authors: nakamura a. Clin Epigenetics. 2017 May 15;9:52. doi: 10.1186/s13148-017-0350-6. eCollection 2017. Clin Epigenetics. 2017. PMID: 28515796 Free PMC article.
3,795 results