Hasegawa Y - 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: hasegawa y. Horm Res Paediatr. 2016;85(1):65-8. doi: 10.1159/000440862. Epub 2015 Sep 26. Horm Res Paediatr. 2016. PMID: 26406169

2

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.

Kanemoto K, Ishikura K, Ariyasu D, Hamasaki Y, Hataya H, Hasegawa Y, Ikeda M. Kanemoto K, et al. Among authors: hasegawa y. Pediatr Nephrol. 2007 Mar;22(3):454-8. doi: 10.1007/s00467-006-0333-x. Epub 2006 Oct 24. Pediatr Nephrol. 2007. PMID: 17061122

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. Among authors: hasegawa t, hasegawa y. 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

Endoplasmic reticulum stress and apoptosis contribute to the pathogenesis of dominantly inherited isolated GH deficiency due to GH1 gene splice site mutations.

Ariyasu D, Yoshida H, Yamada M, Hasegawa Y. Ariyasu D, et al. Among authors: hasegawa y. Endocrinology. 2013 Sep;154(9):3228-39. doi: 10.1210/en.2013-1249. Epub 2013 Jun 4. Endocrinology. 2013. PMID: 23736291

5

Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.

Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai AS, Hasegawa T, Hasegawa Y. Nishina-Uchida N, et al. Among authors: hasegawa t, hasegawa y. Horm Res Paediatr. 2013;80(2):119-28. doi: 10.1159/000353763. Epub 2013 Aug 21. Horm Res Paediatr. 2013. PMID: 23969951

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. Among authors: hasegawa t, hasegawa y. Horm Res Paediatr. 2014;81(2):133-8. doi: 10.1159/000355279. Epub 2014 Jan 18. Horm Res Paediatr. 2014. PMID: 24457197

7

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Takagi M, et al. Among authors: hasegawa t, hasegawa y. Eur J Endocrinol. 2015 Jan;172(1):37-45. doi: 10.1530/EJE-14-0255. Epub 2014 Oct 23. Eur J Endocrinol. 2015. PMID: 25342853

8

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

9

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.

Nakamura Y, Takagi M, Yoshihashi H, Miura M, Narumi S, Hasegawa T, Miyake Y, Hasegawa Y. Nakamura Y, et al. Among authors: hasegawa t, hasegawa y. Am J Med Genet A. 2015 May;167A(5):1171-4. doi: 10.1002/ajmg.a.36996. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712828

10

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. Among authors: hasegawa y. Pediatr Radiol. 2015 Jul;45(8):1239-43. doi: 10.1007/s00247-015-3292-1. Epub 2015 Apr 3. Pediatr Radiol. 2015. PMID: 25835322

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