Shimojima K - Search Results

1

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

Shimojima K, Okamoto N, Inazu T, Yamamoto T. Shimojima K, et al. J Hum Genet. 2011 Nov;56(11):810-2. doi: 10.1038/jhg.2011.100. Epub 2011 Aug 25. J Hum Genet. 2011. PMID: 21866110

2

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.

3

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy.

Shimojima K, Imai K, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2010 Nov;152A(11):2820-6. doi: 10.1002/ajmg.a.33658. Am J Med Genet A. 2010. PMID: 20830801

4

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T. Shimojima K, et al. J Hum Genet. 2011 Aug;56(8):561-5. doi: 10.1038/jhg.2011.58. Epub 2011 Jun 2. J Hum Genet. 2011. PMID: 21633362

5

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T. Shimojima K, et al. Eur J Med Genet. 2012 Jun;55(6-7):400-3. doi: 10.1016/j.ejmg.2012.02.013. Epub 2012 Mar 21. Eur J Med Genet. 2012. PMID: 22490426

6

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.

Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T. Shimojima K, et al. J Hum Genet. 2012 Sep;57(9):593-600. doi: 10.1038/jhg.2012.77. Epub 2012 Jun 21. J Hum Genet. 2012. PMID: 22718018

7

Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.

Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T. Shimada S, et al. Among authors: shimojima k. Am J Med Genet A. 2013 Aug;161A(8):2078-83. doi: 10.1002/ajmg.a.36027. Epub 2013 Jul 4. Am J Med Genet A. 2013. PMID: 23825006

8

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.

Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N. Yamamoto T, et al. Among authors: shimojima k. Am J Med Genet A. 2014 Mar;164A(3):634-8. doi: 10.1002/ajmg.a.36325. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357251

9

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T. Watanabe S, et al. Among authors: shimojima k. Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18. Am J Med Genet A. 2016. PMID: 26782913

10

Clinical features of microdeletion 9q22.3 (pat).

Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T. Shimojima K, et al. Clin Genet. 2009 Apr;75(4):384-93. doi: 10.1111/j.1399-0004.2008.01141.x. Clin Genet. 2009. PMID: 19320658

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