Amano N - Search Results

1

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T. Kato F, et al. Among authors: amano n. Clin Endocrinol (Oxf). 2014 May;80(5):706-13. doi: 10.1111/cen.12379. Epub 2013 Dec 28. Clin Endocrinol (Oxf). 2014. PMID: 24313804

2

Radiological evolution in IMAGe association: a case report.

Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T. Amano N, et al. Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425. Am J Med Genet A. 2008. PMID: 18627061

3

The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias.

Ishii T, Hayashi M, Suwanai A, Amano N, Hasegawa T. Ishii T, et al. Among authors: amano n. Urology. 2010 Jul;76(1):97-100. doi: 10.1016/j.urology.2009.12.065. Epub 2010 Mar 28. Urology. 2010. PMID: 20350750

4

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. Fukao T, et al. Among authors: amano n. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S307-13. doi: 10.1007/s10545-010-9168-5. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652411

5

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

Takagi M, Ishii T, Barnes AM, Weis M, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T. Takagi M, et al. Among authors: amano n. PLoS One. 2012;7(5):e36809. doi: 10.1371/journal.pone.0036809. Epub 2012 May 15. PLoS One. 2012. PMID: 22615817 Free PMC article.

6

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: amano n. PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24. PLoS One. 2012. PMID: 23029363 Free PMC article.

7

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA. Vasques GA, et al. Among authors: amano n. J Clin Endocrinol Metab. 2013 Oct;98(10):E1636-44. doi: 10.1210/jc.2013-2142. Epub 2013 Sep 3. J Clin Endocrinol Metab. 2013. PMID: 24001744

8

Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T. Amano N, et al. J Clin Endocrinol Metab. 2014 Apr;99(4):E713-8. doi: 10.1210/jc.2013-3525. Epub 2014 Jan 28. J Clin Endocrinol Metab. 2014. PMID: 24471569

9

A novel mutation of androgen receptor gene in complete androgen insensitivity syndrome.

Narumi S, Amano N, Hachiya R, Ishii T, Hasegawa T. Narumi S, et al. Among authors: amano n. Clin Pediatr Endocrinol. 2007;16(2):59-61. doi: 10.1297/cpe.16.59. Epub 2007 May 17. Clin Pediatr Endocrinol. 2007. PMID: 24790346 Free PMC article. No abstract available.

10

Growth failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction.

Sasaki G, Ishii T, Amano N, Hachiya R, Narumi S, Hasegawa T. Sasaki G, et al. Among authors: amano n. Clin Pediatr Endocrinol. 2007;16(4):95-8. doi: 10.1297/cpe.16.95. Epub 2007 Nov 17. Clin Pediatr Endocrinol. 2007. PMID: 24790353 Free PMC article.

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