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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
Kawashima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S, Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Kawashima S, et al. Among authors: nakamura a. J Clin Endocrinol Metab. 2018 Jun 1;103(6):2083-2088. doi: 10.1210/jc.2017-02780. J Clin Endocrinol Metab. 2018. PMID: 29878129
Neonatal screening and a new cause of congenital central hypothyroidism.
Tajima T, Nakamura A, Morikawa S, Ishizu K. Tajima T, et al. Among authors: nakamura a. Ann Pediatr Endocrinol Metab. 2014 Sep;19(3):117-21. doi: 10.6065/apem.2014.19.3.117. Epub 2014 Sep 30. Ann Pediatr Endocrinol Metab. 2014. PMID: 25346914 Free PMC article. Review.
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.
3,787 results