Shimojima K - Search Results

1

Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T. Shimojima K, et al. Intractable Rare Dis Res. 2016 Aug;5(3):214-7. doi: 10.5582/irdr.2016.01051. Intractable Rare Dis Res. 2016. PMID: 27672545 Free PMC article.

2

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K. Yamamoto T, et al. Among authors: shimojima k. Hum Genome Var. 2014 Oct 9;1:14010. doi: 10.1038/hgv.2014.10. eCollection 2014. Hum Genome Var. 2014. PMID: 27081503 Free PMC article.

3

Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.

Kobayashi S, Onuma A, Inui T, Wakusawa K, Tanaka S, Shimojima K, Yamamoto T, Haginoya K. Kobayashi S, et al. Among authors: shimojima k. Pediatr Neurol. 2014 Sep;51(3):414-6. doi: 10.1016/j.pediatrneurol.2014.05.004. Epub 2014 May 9. Pediatr Neurol. 2014. PMID: 25160547

4

Growth profiles of 34 patients with Wolf-Hirschhorn syndrome.

Shimojima K, Yamamoto T. Shimojima K, et al. J Pediatr Genet. 2012 Mar;1(1):33-7. doi: 10.3233/PGE-2012-007. J Pediatr Genet. 2012. PMID: 27625799 Free PMC article.

5

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T. Matsumaru S, et al. Among authors: shimojima k. Intractable Rare Dis Res. 2017 May;6(2):132-136. doi: 10.5582/irdr.2017.01020. Intractable Rare Dis Res. 2017. PMID: 28580215 Free PMC article.

6

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Yamamoto T, Lu Y, Nakamura R, Shimojima K, Kira R. Yamamoto T, et al. Among authors: shimojima k. Congenit Anom (Kyoto). 2018 Jul;58(4):143-144. doi: 10.1111/cga.12251. Epub 2017 Oct 12. Congenit Anom (Kyoto). 2018. PMID: 28862359 No abstract available.

7

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: shimojima k. 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.

8

A novel MED12 mutation associated with non-specific X-linked intellectual disability.

Yamamoto T, Shimojima K. Yamamoto T, et al. Among authors: shimojima k. Hum Genome Var. 2015 Jun 18;2:15018. doi: 10.1038/hgv.2015.18. eCollection 2015. Hum Genome Var. 2015. PMID: 27081531 Free PMC article.

9

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Machida O, Shimojima KY, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T. Machida O, et al. Among authors: shimojima ky. Intractable Rare Dis Res. 2022 Aug;11(3):143-148. doi: 10.5582/irdr.2022.01065. Intractable Rare Dis Res. 2022. PMID: 36200032 Free PMC article.

10

Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH.

Shimojima K, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2009 May;149A(5):1076-80. doi: 10.1002/ajmg.a.32783. Am J Med Genet A. 2009. PMID: 19396833 No abstract available.

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