Fukuzawa R - Search Results

1

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.

Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. Shima H, et al. Among authors: fukuzawa r. PLoS One. 2018 Nov 7;13(11):e0206184. doi: 10.1371/journal.pone.0206184. eCollection 2018. PLoS One. 2018. PMID: 30403727 Free PMC article.

2

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: fukuzawa r. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967

3

A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.

Suwanai AS, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T. Suwanai AS, et al. Among authors: fukuzawa r. Clin Endocrinol (Oxf). 2013 Jun;78(6):957-65. doi: 10.1111/cen.12054. Epub 2013 Apr 1. Clin Endocrinol (Oxf). 2013. PMID: 23095176

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. Among authors: fukuzawa r. 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

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. Among authors: fukuzawa r. 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.

6

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. Among authors: fukuzawa r. PLoS One. 2012;7(5):e36809. doi: 10.1371/journal.pone.0036809. Epub 2012 May 15. PLoS One. 2012. PMID: 22615817 Free PMC article.

7

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: fukuzawa r. Horm Res Paediatr. 2013;80(2):119-28. doi: 10.1159/000353763. Epub 2013 Aug 21. Horm Res Paediatr. 2013. PMID: 23969951

8

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. Takagi M, et al. Among authors: fukuzawa r. J Hum Genet. 2018 Dec;63(12):1277-1281. doi: 10.1038/s10038-018-0513-0. Epub 2018 Sep 18. J Hum Genet. 2018. PMID: 30228365

9

Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.

Ishii T, Fukuzawa R, Sato T, Muroya K, Adachi M, Ihara K, Igaki J, Hasegawa Y, Sato S, Mitsui T, Hasegawa T. Ishii T, et al. Among authors: fukuzawa r. Eur J Endocrinol. 2016 Aug;175(2):127-32. doi: 10.1530/EJE-16-0194. Epub 2016 May 17. Eur J Endocrinol. 2016. PMID: 27190208

10

The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.

Nishina-Uchida N, Fukuzawa R, Ishii T, Anaka MR, Hasegawa T, Hasegawa Y. Nishina-Uchida N, et al. Among authors: fukuzawa r. Sex Dev. 2016;10(4):185-190. doi: 10.1159/000448677. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27649576

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