Katsumata N - Search Results

1

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.

Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S. Takasawa K, et al. Among authors: katsumata n. Clin Endocrinol (Oxf). 2014 Jun;80(6):782-9. doi: 10.1111/cen.12394. Epub 2014 Jan 16. Clin Endocrinol (Oxf). 2014. PMID: 24372086

2

A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T. Kitanaka S, et al. Among authors: katsumata n. J Clin Endocrinol Metab. 1997 Dec;82(12):4054-8. doi: 10.1210/jcem.82.12.4455. J Clin Endocrinol Metab. 1997. PMID: 9398712

3

A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia.

Katsumata N, Kawada Y, Yamamoto Y, Noda M, Nimura A, Horikawa R, Tanaka T. Katsumata N, et al. J Clin Endocrinol Metab. 1999 Nov;84(11):3983-7. doi: 10.1210/jcem.84.11.6118. J Clin Endocrinol Metab. 1999. PMID: 10566637

4

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. J Clin Endocrinol Metab. 2002 Aug;87(8):3808-13. doi: 10.1210/jcem.87.8.8763. J Clin Endocrinol Metab. 2002. PMID: 12161514

5

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: katsumata 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.

6

Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome.

Katsumata N, Horikawa R, Tanaka T. Katsumata N, et al. Endocr J. 2008 Mar;55(1):225-8. doi: 10.1507/endocrj.k07-109. Epub 2008 Feb 13. Endocr J. 2008. PMID: 18270433 Free article.

7

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Ishii T, et al. Among authors: katsumata n. J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa557. doi: 10.1210/clinem/dgaa557. J Clin Endocrinol Metab. 2020. PMID: 32835366

8

Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia.

Shima M, Tanae A, Miki K, Katsumata N, Matsumoto S, Nakajima S, Harada T, Shinagawa T, Tanaka T, Okada S. Shima M, et al. Among authors: katsumata n. Eur J Endocrinol. 2000 Mar;142(3):274-9. doi: 10.1530/eje.0.1420274. Eur J Endocrinol. 2000. PMID: 10700722

9

A novel specific bioassay for serum human growth hormone.

Ishikawa M, Nimura A, Horikawa R, Katsumata N, Arisaka O, Wada M, Honjo M, Tanaka T. Ishikawa M, et al. Among authors: katsumata n. J Clin Endocrinol Metab. 2000 Nov;85(11):4274-9. doi: 10.1210/jcem.85.11.6983. J Clin Endocrinol Metab. 2000. PMID: 11095467

10

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. Among authors: katsumata n. J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. doi: 10.1210/jc.2003-030476. J Clin Endocrinol Metab. 2004. PMID: 15001591

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