Shimojima K - Search Results

1

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Lu Y, Chong PF, Kira R, Seto T, Ondo Y, Shimojima K, Yamamoto T. Lu Y, et al. Among authors: shimojima k. J Pediatr Genet. 2017 Dec;6(4):234-237. doi: 10.1055/s-0037-1603194. Epub 2017 May 16. J Pediatr Genet. 2017. PMID: 29142766 Free PMC article.

2

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.

3

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.

4

Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.

Shimojima K, Okanishi T, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2011 Sep;155A(9):2293-7. doi: 10.1002/ajmg.a.34164. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834033

5

An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.

Shimojima K, Okamoto N, Tamasaki A, Sangu N, Shimada S, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2015 Apr;167A(4):724-30. doi: 10.1002/ajmg.a.36959. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25736188

6

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

Shimojima K, Okamoto N, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2016 Apr;170A(4):1076-9. doi: 10.1002/ajmg.a.37545. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26739025

7

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.

8

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.

Yamamoto T, Shimojima K, Ondo Y, Imai K, Chong PF, Kira R, Amemiya M, Saito A, Okamoto N. Yamamoto T, et al. Among authors: shimojima k. Hum Genome Var. 2016 Aug 18;3:16025. doi: 10.1038/hgv.2016.25. eCollection 2016. Hum Genome Var. 2016. PMID: 27579173 Free PMC article.

9

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T. Shimojima K, et al. Eur J Med Genet. 2016 Nov;59(11):559-563. doi: 10.1016/j.ejmg.2016.10.006. Epub 2016 Oct 14. Eur J Med Genet. 2016. PMID: 27751966

10

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.

Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T. Shimojima K, et al. Hum Genome Var. 2016 Oct 13;3:16033. doi: 10.1038/hgv.2016.33. eCollection 2016. Hum Genome Var. 2016. PMID: 27790374 Free PMC article.

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