Takagi M - Search Results

1

Use of liothyronine without levothyroxine in the treatment of mild consumptive hypothyroidism caused by hepatic hemangiomas.

Higuchi S, Takagi M, Hasegawa Y. Higuchi S, et al. Among authors: takagi m. Endocr J. 2017 Jun 29;64(6):639-643. doi: 10.1507/endocrj.EJ16-0559. Epub 2017 Apr 18. Endocr J. 2017. PMID: 28420821 Free article.

2

Homozygous DUOXA2 mutation (p.Tyr138^*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.

Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S. Sugisawa C, et al. Among authors: takagi m. Endocr J. 2017 Aug 30;64(8):807-812. doi: 10.1507/endocrj.EJ16-0564. Epub 2017 Jul 16. Endocr J. 2017. PMID: 28626131 Free article. Review.

3

Fertility preservation in a family with a novel NR5A1 mutation.

Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y. Yagi H, et al. Among authors: takagi m. Endocr J. 2015;62(3):289-95. doi: 10.1507/endocrj.EJ14-0340. Epub 2014 Dec 12. Endocr J. 2015. PMID: 25502990 Free article.

4

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.

Higuchi S, Takagi M, Shimomura S, Nishimura G, Hasegawa Y. Higuchi S, et al. Among authors: takagi m. Clin Pediatr Endocrinol. 2016 Jul;25(3):107-10. doi: 10.1297/cpe.25.107. Epub 2016 Jul 20. Clin Pediatr Endocrinol. 2016. PMID: 27507912 Free PMC article. No abstract available.

5

Hypertension is a characteristic complication of X-linked hypophosphatemia.

Nakamura Y, Takagi M, Takeda R, Miyai K, Hasegawa Y. Nakamura Y, et al. Among authors: takagi m. Endocr J. 2017 Mar 31;64(3):283-289. doi: 10.1507/endocrj.EJ16-0199. Epub 2016 Dec 27. Endocr J. 2017. PMID: 28025445 Free article.

6

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Horm Res Paediatr. 2014;81(2):133-8. doi: 10.1159/000355279. Epub 2014 Jan 18. Horm Res Paediatr. 2014. PMID: 24457197

7

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.

Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2015 Jul;167(7):1627-31. doi: 10.1002/ajmg.a.37051. Epub 2015 Apr 9. Am J Med Genet A. 2015. PMID: 25858481

8

Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.

Takagi M, Nishina N, Yagi H, Hasegawa Y. Takagi M, et al. Horm Res Paediatr. 2016;85(1):65-8. doi: 10.1159/000440862. Epub 2015 Sep 26. Horm Res Paediatr. 2016. PMID: 26406169

9

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Takagi M, et al. Am J Med Genet A. 2016 Mar;170(3):795-8. doi: 10.1002/ajmg.a.37481. Epub 2015 Nov 19. Am J Med Genet A. 2016. PMID: 26586363 No abstract available.

10

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.

Takagi M, Yagi H, Nakamura Y, Shinohara H, Takeda R, Shimada A, Nishimura G, Hasegawa Y. Takagi M, et al. Clin Pediatr Endocrinol. 2015 Jul;24(3):139-41. doi: 10.1297/cpe.24.139. Epub 2015 Jul 18. Clin Pediatr Endocrinol. 2015. PMID: 26594095 Free PMC article. No abstract available.

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