Nakamura A - Search Results

1

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Kagami M, et al. Among authors: nakamura a. Genet Med. 2017 Dec;19(12):1356-1366. doi: 10.1038/gim.2017.53. Epub 2017 May 31. Genet Med. 2017. PMID: 28640239 Free PMC article.

2

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, Nakagawa H, Nagasaki K, Jo W, Tajima T. Nakamura A, et al. Endocr J. 2011;58(2):123-30. doi: 10.1507/endocrj.k10e-246. Epub 2010 Dec 10. Endocr J. 2011. PMID: 21157112 Free article.

3

A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.

Jo W, Endo M, Ishizu K, Nakamura A, Tajima T. Jo W, et al. Among authors: nakamura a. Tohoku J Exp Med. 2011 Feb;223(2):113-8. doi: 10.1620/tjem.223.113. Tohoku J Exp Med. 2011. PMID: 21263211 Free article.

4

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies.

Takanashi K, Suzuki Y, Noro A, Sugiyama M, Nakanishi M, Nagashima T, Nakamura A, Katsura I, Tajima T. Takanashi K, et al. Among authors: nakamura a. Pediatr Rep. 2011 Jun 30;3(3):e20. doi: 10.4081/pr.2011.e20. Epub 2011 Jul 18. Pediatr Rep. 2011. PMID: 22053264 Free PMC article.

5

Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3).

Nakamura A, Ishidu K, Tajima T. Nakamura A, et al. J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):104-6. doi: 10.4274/jcrpe.584. J Clin Res Pediatr Endocrinol. 2012. PMID: 22672869 Free PMC article.

6

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.

Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami M, Hattori T, Aoyagi H, Ishizu K, Tajima T. Kondo E, et al. Among authors: nakamura a. Endocr J. 2013;60(1):51-5. doi: 10.1507/endocrj.ej12-0248. Epub 2012 Oct 28. Endocr J. 2013. PMID: 23018980 Free article.

7

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.

Hatta Y, Nakamura A, Hara S, Kamijo T, Iwata J, Hamajima T, Abe M, Okada M, Ushio M, Tsuyuki K, Tajima T. Hatta Y, et al. Among authors: nakamura a. Endocr J. 2013;60(3):299-304. doi: 10.1507/endocrj.ej12-0330. Epub 2012 Nov 30. Endocr J. 2013. PMID: 23197115 Free article.

8

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.

Tajima T, Nakamura A, Ishizu K. Tajima T, et al. Among authors: nakamura a. Endocr J. 2013;60(2):245-9. doi: 10.1507/endocrj.ej13-0009. Epub 2013 Jan 30. Endocr J. 2013. PMID: 23363888 Free article.

9

A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia.

Nakamura A, Hostubo T, Jo W, Ishizu K, Tajima T. Nakamura A, et al. Clin Pediatr Endocrinol. 2011 Jan;20(1):21-3. doi: 10.1297/cpe.20.21. Epub 2011 Mar 26. Clin Pediatr Endocrinol. 2011. PMID: 23926390 Free PMC article. No abstract available.

10

Nephrocalcinosis and placental findings in neonatal bartter syndrome.

Maruyama H, Shinno Y, Fujiwara K, Nakamura A, Tajima T, Nakamura M, Kageyama M. Maruyama H, et al. Among authors: nakamura m, nakamura a. AJP Rep. 2013 May;3(1):21-4. doi: 10.1055/s-0032-1329682. Epub 2012 Dec 3. AJP Rep. 2013. PMID: 23943704 Free PMC article.

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