Shimojima K - Search Results

1

Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.

Takahashi I, Takahashi T, Sawada K, Shimojima K, Yamamoto T. Takahashi I, et al. Among authors: shimojima k. Am J Med Genet A. 2012 Jan;158A(1):220-3. doi: 10.1002/ajmg.a.34382. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22139980

2

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

3

Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.

Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y. Toyoshima M, et al. Among authors: shimojima k. Am J Med Genet A. 2009 Aug;149A(8):1722-6. doi: 10.1002/ajmg.a.32762. Am J Med Genet A. 2009. PMID: 19353589

4

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.

5

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.

Shimojima K, Saito K, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2009 Aug;149A(8):1818-22. doi: 10.1002/ajmg.a.32963. Am J Med Genet A. 2009. PMID: 19610083 No abstract available.

6

Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.

Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T. Inage E, et al. Among authors: shimojima k. Eur J Med Genet. 2010 May-Jun;53(3):159-61. doi: 10.1016/j.ejmg.2010.02.009. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219705

7

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.

Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T. Takatsuki S, et al. Among authors: shimojima k. Am J Med Genet A. 2010 Apr;152A(4):1020-5. doi: 10.1002/ajmg.a.33362. Am J Med Genet A. 2010. PMID: 20358620

8

Co-occurrence of Prader-Willi and Sotos syndromes.

Okamoto N, Akimaru N, Matsuda K, Suzuki Y, Shimojima K, Yamamoto T. Okamoto N, et al. Among authors: shimojima k. Am J Med Genet A. 2010 Aug;152A(8):2103-9. doi: 10.1002/ajmg.a.33544. Am J Med Genet A. 2010. PMID: 20635407

9

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K. Yamamoto T, et al. Among authors: shimojima k. Am J Med Genet A. 2011 Jan;155A(1):113-9. doi: 10.1002/ajmg.a.33735. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204217

10

Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.

Kibe T, Mori Y, Okanishi T, Shimojima K, Yokochi K, Yamamoto T. Kibe T, et al. Among authors: shimojima k. Am J Med Genet A. 2011 Jan;155A(1):215-20. doi: 10.1002/ajmg.a.33786. Am J Med Genet A. 2011. PMID: 21204235

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