Nagasaki K - Search Results

1

Hypocarnitinemia in twins after maternal pivalate-conjugated antibiotic therapy.

Fuse T, Aizawa Y, Nyuzuki H, Sawano K, Nagasaki K, Saitoh A. Fuse T, et al. Among authors: nagasaki k. Pediatr Int. 2024 Jan-Dec;66(1):e15750. doi: 10.1111/ped.15750. Pediatr Int. 2024. PMID: 38409865 No abstract available.

2

Autonomously functioning thyroid nodule in a four-year-old boy with Sotos syndrome.

Nyuzuki H, Nagasaki K, Matsuyama H, Tomita M, Imai C, Ogawa Y, Kikuchi T, Uchiyama M. Nyuzuki H, et al. Among authors: nagasaki k. Pediatr Int. 2011 Feb;53(1):137-8. doi: 10.1111/j.1442-200X.2010.03306.x. Pediatr Int. 2011. PMID: 21342349 No abstract available.

3

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Nagasaki K, et al. J Clin Endocrinol Metab. 2012 Sep;97(9):E1808-13. doi: 10.1210/jc.2012-1369. Epub 2012 Jun 20. J Clin Endocrinol Metab. 2012. PMID: 22723333

4

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.

Nagasaki K, Tsuchiya S, Saitoh A, Ogata T, Fukami M. Nagasaki K, et al. Endocr J. 2013;60(2):231-6. doi: 10.1507/endocrj.ej12-0257. Epub 2012 Oct 25. Endocr J. 2013. PMID: 23095209 Free article.

5

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Nagasaki K, et al. Am J Med Genet A. 2014 Mar;164A(3):731-5. doi: 10.1002/ajmg.a.36314. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375913

6

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A. Saito T, et al. Among authors: nagasaki k. Pediatr Radiol. 2016 Apr;46(4):513-8. doi: 10.1007/s00247-015-3518-2. Epub 2016 Feb 11. Pediatr Radiol. 2016. PMID: 26867606

7

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

Nishizaki Y, Hiura M, Sato H, Ogawa Y, Saitoh A, Nagasaki K. Nishizaki Y, et al. Among authors: nagasaki k. Clin Pediatr Endocrinol. 2016 Oct;25(4):135-138. doi: 10.1297/cpe.25.135. Epub 2016 Oct 18. Clin Pediatr Endocrinol. 2016. PMID: 27780983 Free PMC article. No abstract available.

8

Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

Soma N, Higashimoto K, Imamura M, Saitoh A, Soejima H, Nagasaki K. Soma N, et al. Among authors: nagasaki k. Am J Med Genet A. 2017 Apr;173(4):1077-1081. doi: 10.1002/ajmg.a.38111. Am J Med Genet A. 2017. PMID: 28328139

9

Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome.

Inoue T, Nakamura A, Matsubara K, Nyuzuki H, Nagasaki K, Oka A, Fukami M, Kagami M. Inoue T, et al. Among authors: nagasaki k. Am J Med Genet A. 2017 Oct;173(10):2847-2850. doi: 10.1002/ajmg.a.38419. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28816024 No abstract available.

10

PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule.

Nyuzuki H, Kogai T, Hishinuma A, Ogawa Y, Saitoh A, Nagasaki K. Nyuzuki H, et al. Among authors: nagasaki k. Pediatr Int. 2017 Nov;59(11):1223-1224. doi: 10.1111/ped.13427. Pediatr Int. 2017. PMID: 29359449 No abstract available.

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