Sato N - Search Results

1

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: sato s, sato n. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

2

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.

Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T. Katsumata N, et al. Among authors: sato n. J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13. doi: 10.1210/jcem.87.8.8763. J Clin Endocrinol Metab. 2002. PMID: 12161514

3

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. Sato N, et al. J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. doi: 10.1210/jc.2003-030476. J Clin Endocrinol Metab. 2004. PMID: 15001591

4

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

Hasegawa T, Fukami M, Sato N, Katsumata N, Sasaki G, Fukutani K, Morohashi K, Ogata T. Hasegawa T, et al. Among authors: sato n. J Clin Endocrinol Metab. 2004 Dec;89(12):5930-5. doi: 10.1210/jc.2004-0935. J Clin Endocrinol Metab. 2004. PMID: 15579739 Review.

5

Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.

Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T. Sato N, et al. Hum Reprod. 2005 Aug;20(8):2173-8. doi: 10.1093/humrep/dei052. Epub 2005 Apr 21. Hum Reprod. 2005. PMID: 15845591

6

Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.

Sato N, Ohyama K, Fukami M, Okada M, Ogata T. Sato N, et al. J Clin Endocrinol Metab. 2006 Apr;91(4):1415-8. doi: 10.1210/jc.2005-2266. Epub 2006 Jan 17. J Clin Endocrinol Metab. 2006. PMID: 16418210

7

[Kallmann syndrome].

Sato N, Ogata T. Sato N, et al. Nihon Rinsho. 2006 Jun 28;Suppl 2:220-4. Nihon Rinsho. 2006. PMID: 16817388 Review. Japanese. No abstract available.

8

Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.

Ogata T, Fujiwara I, Ogawa E, Sato N, Udaka T, Kosaki K. Ogata T, et al. Among authors: sato n. Endocr J. 2006 Dec;53(6):741-3. doi: 10.1507/endocrj.k06-099. Epub 2006 Sep 7. Endocr J. 2006. PMID: 16960397 Free article.

9

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T. Sato N, et al. Eur J Endocrinol. 2007 Feb;156(2):167-71. doi: 10.1530/EJE-06-0606. Eur J Endocrinol. 2007. PMID: 17287405

10

OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. Dateki S, et al. Among authors: sato n. J Clin Endocrinol Metab. 2008 Oct;93(10):3697-702. doi: 10.1210/jc.2008-0720. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628516

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

5,456 results

Search Page

Filters