Fukami M - Search Results

1

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. Shima H, et al. Among authors: fukami m. Endocr J. 2017 Aug 30;64(8):813-817. doi: 10.1507/endocrj.EJ17-0078. Epub 2017 Jul 28. Endocr J. 2017. PMID: 28659543 Free article.

2

Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.

Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T. Fukami M, et al. Endocr J. 2004 Apr;51(2):197-200. doi: 10.1507/endocrj.51.197. Endocr J. 2004. PMID: 15118270 Free article.

3

SOX10 mutation in Waardenburg syndrome type II.

Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. Iso M, et al. Among authors: fukami m. Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403. Am J Med Genet A. 2008. PMID: 18627047 No abstract available.

4

MAMLD1 (CXorf6): a new gene for hypospadias.

Ogata T, Wada Y, Fukami M. Ogata T, et al. Among authors: fukami m. Sex Dev. 2008;2(4-5):244-50. doi: 10.1159/000152040. Epub 2008 Nov 5. Sex Dev. 2008. PMID: 18987498 Review.

5

Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Itakura M, Ogata T. Muroya K, et al. Among authors: fukami m. Endocr J. 2010;57(2):171-4. doi: 10.1507/endocrj.k09e-313. Epub 2009 Dec 1. Endocr J. 2010. PMID: 19952462 Free article.

6

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Dateki S, et al. Among authors: fukami m. J Clin Endocrinol Metab. 2010 Feb;95(2):756-64. doi: 10.1210/jc.2009-1334. Epub 2009 Dec 4. J Clin Endocrinol Metab. 2010. PMID: 19965921

7

Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.

Fukami M, Maruyama T, Dateki S, Sato N, Yoshimura Y, Ogata T. Fukami M, et al. Horm Res Paediatr. 2010;73(6):477-81. doi: 10.1159/000313373. Epub 2010 Apr 15. Horm Res Paediatr. 2010. PMID: 20395662

8

GATA3 abnormalities in six patients with HDR syndrome.

Fukami M, Muroya K, Miyake T, Iso M, Kato F, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T. Fukami M, et al. Endocr J. 2011;58(2):117-21. doi: 10.1507/endocrj.k10e-234. Epub 2011 Jan 13. Endocr J. 2011. PMID: 21242646 Free article.

9

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. Among authors: fukami m. Endocr J. 2013;60(2):231-6. doi: 10.1507/endocrj.ej12-0257. Epub 2012 Oct 25. Endocr J. 2013. PMID: 23095209 Free article.

10

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T. Yamaguchi R, et al. Among authors: fukami m. Endocr J. 2013;60(7):855-9. doi: 10.1507/endocrj.ej13-0024. Epub 2013 Mar 9. Endocr J. 2013. PMID: 23474776 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

435 results

Search Page