Nishigaki S - Search Results

1

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Seto T, Hamazaki T, Nishigaki S, Kudo S, Shintaku H, Ondo Y, Shimojima K, Yamamoto T. Seto T, et al. Among authors: nishigaki s. Intractable Rare Dis Res. 2017 Aug;6(3):177-182. doi: 10.5582/irdr.2017.01031. Intractable Rare Dis Res. 2017. PMID: 28944139 Free PMC article.

2

Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.

Nishigaki S, Hamazaki T, Saito M, Yamamoto T, Seto T, Shintaku H. Nishigaki S, et al. Mol Cytogenet. 2015 Jul 26;8:54. doi: 10.1186/s13039-015-0162-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26213576 Free PMC article.

3

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

Nishigaki S, Hamazaki T, Fujita K, Morikawa S, Tajima T, Shintaku H. Nishigaki S, et al. Thyroid. 2016 Dec;26(12):1701-1705. doi: 10.1089/thy.2016.0005. Epub 2016 Nov 21. Thyroid. 2016. PMID: 27762734

4

Double pancreatic tumors in an adolescent: Imaging features.

Odagiri S, Tokuhara D, Nishigaki S, Cho Y, Shintaku H. Odagiri S, et al. Among authors: nishigaki s. Pediatr Int. 2016 Nov;58(11):1239-12342. doi: 10.1111/ped.13142. Pediatr Int. 2016. PMID: 27882732

5

Clinical features of women with Turner syndrome experiencing transition period in Japan.

Nishigaki S, Hamazaki T, Tsuruhara A, Yoshida T, Imamura T, Inada H, Fujita K, Shintaku H. Nishigaki S, et al. Endocr J. 2017 May 30;64(5):499-505. doi: 10.1507/endocrj.EJ16-0370. Epub 2017 Mar 22. Endocr J. 2017. PMID: 28331102 Free article.

6

Usefulness of serum biopterin as a predictive biomarker for childhood asthma control: A prospective cohort study.

Kasuga S, Kabata D, Sakaguchi T, Kudoh S, Nishigaki S, Higa Y, Fujikawa S, Fujitani H, Shintani A, Hamazaki T, Shintaku H. Kasuga S, et al. Among authors: nishigaki s. Allergol Int. 2019 Jan;68(1):96-100. doi: 10.1016/j.alit.2018.08.012. Epub 2018 Oct 5. Allergol Int. 2019. PMID: 30297096 Free article.

7

Incidence of menstrual cycle abnormalities and polycystic ovary syndrome in female Japanese patients with type 1 diabetes mellitus. The role of androgens.

Nakamichi T, Kawamura T, Nishigaki S, Odagiri S, Yuyama Y, Nishikawa-Nakamura N, Hotta Y, Hamazaki T. Nakamichi T, et al. Among authors: nishigaki s. Clin Pediatr Endocrinol. 2024;33(2):59-65. doi: 10.1297/cpe.2024-0011. Epub 2024 Feb 25. Clin Pediatr Endocrinol. 2024. PMID: 38572387 Free PMC article.

8

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.

Yatsuga S, Amano N, Nakamura-Utsunomiya A, Kobayashi H, Takasawa K, Nagasaki K, Nakamura A, Nishigaki S, Numakura C, Fujiwara I, Minamitani K, Hasegawa T, Tajima T. Yatsuga S, et al. Among authors: nishigaki s. Endocr J. 2020 Aug 28;67(8):853-857. doi: 10.1507/endocrj.EJ20-0011. Epub 2020 Apr 21. Endocr J. 2020. PMID: 32321882 Free article.

9

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.

Hosoki K, Ohta T, Fujita K, Nishigaki S, Shiomi M, Niikawa N, Saitoh S. Hosoki K, et al. Among authors: nishigaki s. Pediatr Int. 2012 Jun;54(3):e22-5. doi: 10.1111/j.1442-200X.2011.03550.x. Pediatr Int. 2012. PMID: 22631585 No abstract available.

10

A retrospective multicenter study of bone mineral density in adolescents and adults with Turner syndrome in Japan.

Itonaga T, Koga E, Nishigaki S, Kawai M, Sakakibara H, Hasegawa Y. Itonaga T, et al. Among authors: nishigaki s. Endocr J. 2020 Oct 28;67(10):1023-1028. doi: 10.1507/endocrj.EJ20-0083. Epub 2020 Jun 18. Endocr J. 2020. PMID: 32554947 Free article.

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