Yamamoto T - 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. Among authors: yamamoto t. 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

Comment on "Altered DNA copy number in patients with different seizure disorder type: by array-CGH" by Kim HS et al. Brain & Development 2007;29:639-643.

Yamamoto T, Páez MT, Shimojima K. Yamamoto T, et al. Brain Dev. 2009 Jan;31(1):94. doi: 10.1016/j.braindev.2008.06.008. Epub 2008 Jul 26. Brain Dev. 2009. PMID: 18657918 No abstract available.

3

Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).

Shimojima K, Páez MT, Kurosawa K, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. Brain Dev. 2009 Sep;31(8):629-33. doi: 10.1016/j.braindev.2008.08.013. Epub 2008 Oct 5. Brain Dev. 2009. PMID: 18835671

4

Application of array-based comparative genome hybridization in children with developmental delay or mental retardation.

Liang JS, Shimojima K, Yamamoto T. Liang JS, et al. Among authors: yamamoto t. Pediatr Neonatol. 2008 Dec;49(6):213-7. doi: 10.1016/S1875-9572(09)60013-9. Pediatr Neonatol. 2008. PMID: 19166117 Free article. Review.

5

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. Brain Dev. 2010 Mar;32(3):171-9. doi: 10.1016/j.braindev.2009.02.011. Epub 2009 Mar 27. Brain Dev. 2010. PMID: 19328639

6

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: yamamoto t. 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

7

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.

8

A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder.

Shimojima K, Tanaka K, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. Am J Med Genet A. 2009 Jun;149A(6):1359-63. doi: 10.1002/ajmg.a.32872. Am J Med Genet A. 2009. PMID: 19449428 No abstract available.

9

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. Among authors: yamamoto t. 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.

10

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.

Shimojima K, Komoike Y, Tohyama J, Takahashi S, Páez MT, Nakagawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T. Shimojima K, et al. Among authors: yamamoto t. Genomics. 2009 Dec;94(6):414-22. doi: 10.1016/j.ygeno.2009.08.015. Epub 2009 Sep 3. Genomics. 2009. PMID: 19733229 Free article.

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