Yagi H - Search Results

1

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

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

2

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. Endocr J. 2015;62(3):289-95. doi: 10.1507/endocrj.EJ14-0340. Epub 2014 Dec 12. Endocr J. 2015. PMID: 25502990 Free article.

3

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y. Yagi H, et al. Am J Med Genet A. 2016 Apr;170A(4):1088-91. doi: 10.1002/ajmg.a.37516. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26788936 No abstract available.

4

Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.

Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G. Yagi H, et al. Pediatr Radiol. 2015 Jul;45(8):1239-43. doi: 10.1007/s00247-015-3292-1. Epub 2015 Apr 3. Pediatr Radiol. 2015. PMID: 25835322

5

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.

Takeda R, Takagi M, Miyai K, Shinohara H, Yagi H, Moritani M, Yokota I, Hasegawa Y. Takeda R, et al. Among authors: yagi h. Clin Pediatr Endocrinol. 2015 Oct;24(4):191-3. doi: 10.1297/cpe.24.191. Epub 2015 Oct 24. Clin Pediatr Endocrinol. 2015. PMID: 26568660 Free PMC article. No abstract available.

6

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. Among authors: yagi h. 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.

7

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.

Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R, Hasegawa T. Takagi M, et al. Among authors: yagi h. Hum Genome Var. 2016 Oct 13;3:16034. doi: 10.1038/hgv.2016.34. eCollection 2016. Hum Genome Var. 2016. PMID: 27790375 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. Among authors: yagi h. 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

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.

Fukuma M, Takagi M, Shimazu T, Imamura H, Yagi H, Nishimura G, Hasegawa T. Fukuma M, et al. Among authors: yagi h. Clin Pediatr Endocrinol. 2018;27(3):193-196. doi: 10.1297/cpe.27.193. Epub 2018 Jul 31. Clin Pediatr Endocrinol. 2018. PMID: 30083037 Free PMC article. No abstract available.

10

Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset.

Fukuma M, Ariyasu D, Hatano M, Yagi H, Hasegawa Y. Fukuma M, et al. Among authors: yagi h. Clin Pediatr Endocrinol. 2016 Apr;25(2):67-9. doi: 10.1297/cpe.25.67. Epub 2016 Apr 28. Clin Pediatr Endocrinol. 2016. PMID: 27212798 Free PMC article. No abstract available.

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