Tanae A - Search Results

1

Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.

Kajihara S, Matsuhashi S, Yamamoto K, Kido K, Tsuji K, Tanae A, Fujiyama S, Itoh T, Tanigawa K, Uchida M, et al. Kajihara S, et al. Among authors: tanae a. Am J Hum Genet. 1995 Sep;57(3):549-55. Am J Hum Genet. 1995. PMID: 7668282 Free PMC article.

2

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. Higashi Y, et al. Among authors: tanae a. Am J Hum Genet. 1988 Jan;42(1):17-25. Am J Hum Genet. 1988. PMID: 2827462 Free PMC article.

3

A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I. Katsumata N, et al. Among authors: tanae a. Hum Mol Genet. 1995 Apr;4(4):745-6. doi: 10.1093/hmg/4.4.745. Hum Mol Genet. 1995. PMID: 7633426 No abstract available.

4

Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia.

Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Katsumata N, et al. Among authors: tanae a. Endocr J. 1997 Jun;44(3):441-6. doi: 10.1507/endocrj.44.441. Endocr J. 1997. PMID: 9279522 Free article.

5

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Katsumata N, et al. Among authors: tanae a. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215405

6

A Japanese family with autosomal dominant growth hormone deficiency.

Saitoh H, Fukushima T, Kamoda T, Tanae A, Kamijo T, Yamamoto M, Ogawa M, Hayashi Y, Ohmori S, Seo H. Saitoh H, et al. Among authors: tanae a. Eur J Pediatr. 1999 Aug;158(8):624-7. doi: 10.1007/s004310051164. Eur J Pediatr. 1999. PMID: 10445339

7

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: tanae a. J Clin Endocrinol Metab. 1997 Dec;82(12):4054-8. doi: 10.1210/jcem.82.12.4455. J Clin Endocrinol Metab. 1997. PMID: 9398712

8

Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.

Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Katsumata N, et al. Among authors: tanae a. Hum Mutat. 1998;Suppl 1:S304-7. doi: 10.1002/humu.1380110195. Hum Mutat. 1998. PMID: 9452116 No abstract available.

9

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Higashi Y, et al. Among authors: tanae a. Proc Natl Acad Sci U S A. 1988 Oct;85(20):7486-90. doi: 10.1073/pnas.85.20.7486. Proc Natl Acad Sci U S A. 1988. PMID: 2845408 Free PMC article.

10

Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia.

Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T. Katsumata N, et al. Among authors: tanae a. Endocr J. 2000 Mar;47 Suppl:S121-4. doi: 10.1507/endocrj.47.supplmarch_s121. Endocr J. 2000. PMID: 10890199 Free article.

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