Takagi M - Search Results

1

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

Takagi M, Ishii T, Barnes AM, Weis M, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T. Takagi M, et al. PLoS One. 2012;7(5):e36809. doi: 10.1371/journal.pone.0036809. Epub 2012 May 15. PLoS One. 2012. PMID: 22615817 Free PMC article.

2

Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.

Takagi M, Hori N, Chinen Y, Kurosawa K, Tanaka Y, Oku K, Sakata H, Fukuzawa R, Nishimura G, Spranger J, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2011 Sep;155A(9):2269-73. doi: 10.1002/ajmg.a.34152. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834035

3

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.

4

Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography.

Akizawa Y, Nishimura G, Hasegawa T, Takagi M, Kawamichi Y, Matsuda Y, Matsui H, Saito K. Akizawa Y, et al. Among authors: takagi m. Congenit Anom (Kyoto). 2012 Dec;52(4):203-6. doi: 10.1111/j.1741-4520.2011.00346.x. Congenit Anom (Kyoto). 2012. PMID: 23181495

5

A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishimura G, Hasegawa T. Takagi M, et al. Am J Med Genet A. 2013 Aug;161A(8):1980-2. doi: 10.1002/ajmg.a.36025. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813632 No abstract available.

6

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

7

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1.

Takagi M, Matsushita M, Nishimura G, Hasegawa T. Takagi M, et al. Hum Genome Var. 2014 Nov 20;1:14025. doi: 10.1038/hgv.2014.25. eCollection 2014. Hum Genome Var. 2014. PMID: 27081514 Free PMC article.

8

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.

9

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.

Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T. Takagi M, et al. Hum Genome Var. 2017 Apr 13;4:17012. doi: 10.1038/hgv.2017.12. eCollection 2017. Hum Genome Var. 2017. PMID: 28446958 Free PMC article.

10

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

Shinohara H, Takagi M, Ito K, Shimizu E, Fukuzawa R, Hasegawa T. Shinohara H, et al. Among authors: takagi m. Thyroid. 2018 Aug;28(8):1071-1073. doi: 10.1089/thy.2017.0481. Epub 2018 Jul 30. Thyroid. 2018. PMID: 29882472

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