Yamamoto T - Search Results

1

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Among authors: yamamoto shimojima k, yamamoto t. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144

2

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A. Adachi M, et al. Among authors: yamamoto t. Am J Med Genet A. 2004 Aug 1;128A(4):333-9. doi: 10.1002/ajmg.a.30169. Am J Med Genet A. 2004. PMID: 15264278

3

Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

Páez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R. Páez MT, et al. Among authors: yamamoto t. Am J Med Genet A. 2008 May 1;146A(9):1158-65. doi: 10.1002/ajmg.a.32205. Am J Med Genet A. 2008. PMID: 18393291

4

Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1.

Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K. Yamamoto T, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1575-80. doi: 10.1002/ajmg.a.32204. Am J Med Genet A. 2008. PMID: 18470894

5

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. Among authors: yamamoto t. 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.

6

Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.

Okumura A, Lee T, Shimojima K, Hisata K, Shoji H, Takanashi J, Yamamoto T, Shimizu T, Barkovich AJ. Okumura A, et al. Among authors: yamamoto t. Am J Med Genet A. 2009 Nov;149A(11):2479-83. doi: 10.1002/ajmg.a.33044. Am J Med Genet A. 2009. PMID: 19842192

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: yamamoto t. 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

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. Among authors: yamamoto t. 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

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. 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: yamamoto t. 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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