Takagi M - Search Results

1

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Takagi M, Takahashi M, Ohtsu Y, Sato T, Narumi S, Arakawa H, Hasegawa T. Takagi M, et al. Endocr J. 2016 Apr 25;63(4):405-10. doi: 10.1507/endocrj.EJ15-0409. Epub 2016 Jan 15. Endocr J. 2016. PMID: 26781211 Free article.

2

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

3

A novel KAL1 mutation is associated with combined pituitary hormone deficiency.

Takagi M, Narumi S, Hamada R, Hasegawa Y, Hasegawa T. Takagi M, et al. Hum Genome Var. 2014 Sep 25;1:14011. doi: 10.1038/hgv.2014.11. eCollection 2014. Hum Genome Var. 2014. PMID: 27081504 Free PMC article.

4

A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.

Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T. Takagi M, et al. Endocr J. 2017 Feb 27;64(2):229-234. doi: 10.1507/endocrj.EJ16-0361. Epub 2016 Nov 22. Endocr J. 2017. PMID: 27885216 Free article.

5

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.

6

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24. PLoS One. 2012. PMID: 23029363 Free PMC article.

7

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. Takagi M, et al. Pituitary. 2014 Dec;17(6):569-74. doi: 10.1007/s11102-013-0546-5. Pituitary. 2014. PMID: 24346842

8

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

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 novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.

Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, Hasegawa T. Takagi M, et al. Clin Endocrinol (Oxf). 2016 Oct;85(4):669-71. doi: 10.1111/cen.13116. Epub 2016 Jun 30. Clin Endocrinol (Oxf). 2016. PMID: 27234692 No abstract available.

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