Ushijima K - Search Results

1

L-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS.

Kitamura M, Yatsuga S, Abe T, Povalko N, Saiki R, Ushijima K, Yamashita Y, Koga Y. Kitamura M, et al. Among authors: ushijima k. J Neurol. 2016 Aug;263(8):1666-8. doi: 10.1007/s00415-016-8069-4. Epub 2016 Jun 22. J Neurol. 2016. PMID: 27334908 Free PMC article. No abstract available.

2

Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report.

Yatsuga S, Saikusa T, Sasaki T, Ushijima K, Kitamura M, Nishioka J, Koga Y. Yatsuga S, et al. Among authors: ushijima k. J Med Case Rep. 2016 Aug 10;10(1):219. doi: 10.1186/s13256-016-1013-5. J Med Case Rep. 2016. PMID: 27510038 Free PMC article.

3

The first Japanese case of central precocious puberty with a novel MKRN3 mutation.

Nishioka J, Shima H, Fukami M, Yatsuga S, Matsumoto T, Ushijima K, Kitamura M, Koga Y. Nishioka J, et al. Among authors: ushijima k. Hum Genome Var. 2017 May 18;4:17017. doi: 10.1038/hgv.2017.17. eCollection 2017. Hum Genome Var. 2017. PMID: 28546864 Free PMC article.

4

Severe Hypernatremia in Combined Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State: A Case Report of Two Japanese Children.

Shima S, Umino S, Kitamura M, Ushijima K, Yatsuga S. Shima S, et al. Among authors: ushijima k. Cureus. 2020 Aug 11;12(8):e9672. doi: 10.7759/cureus.9672. Cureus. 2020. PMID: 32923267 Free PMC article.

5

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.

Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M. Ushijima K, et al. J Hum Genet. 2018 Mar;63(3):377-381. doi: 10.1038/s10038-017-0381-z. Epub 2018 Jan 9. J Hum Genet. 2018. PMID: 29311684 Review.

6

A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes.

Akiba K, Ushijima K, Fukami M, Hasegawa Y. Akiba K, et al. Among authors: ushijima k. Diabet Med. 2020 Oct;37(10):1772-1776. doi: 10.1111/dme.13970. Epub 2019 Jun 5. Diabet Med. 2020. PMID: 31001871

7

Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.

Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T, Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S. Ushijima K, et al. Am J Med Genet A. 2021 Apr;185(4):1067-1075. doi: 10.1002/ajmg.a.62063. Epub 2021 Jan 5. Am J Med Genet A. 2021. PMID: 33399274

8

KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes.

Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horikawa Y, Matsubara Y, Fukami M, Kawamura T; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Ushijima K, et al. Pediatr Diabetes. 2019 Sep;20(6):712-719. doi: 10.1111/pedi.12868. Epub 2019 Jun 3. Pediatr Diabetes. 2019. PMID: 31124255

9

Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y.

Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M, Fukami M. Suzuki E, et al. Among authors: ushijima k. Reprod Med Biol. 2020 Mar 2;19(2):178-181. doi: 10.1002/rmb2.12321. eCollection 2020 Apr. Reprod Med Biol. 2020. PMID: 32273824 Free PMC article.

10

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Ushijima K, et al. Pediatr Diabetes. 2018 Mar;19(2):243-250. doi: 10.1111/pedi.12544. Epub 2017 Jun 9. Pediatr Diabetes. 2018. PMID: 28597946

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