Yamamoto T - Search Results

1

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

Yamamoto T, Mencarelli MA, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F. Yamamoto T, et al. Eur J Med Genet. 2014 Mar;57(4):163-8. doi: 10.1016/j.ejmg.2014.02.001. Epub 2014 Feb 11. Eur J Med Genet. 2014. PMID: 24525055

2

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.

Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y. Kurosawa K, et al. Among authors: yamamoto t. Brain Dev. 2005 Aug;27(5):378-82. doi: 10.1016/j.braindev.2005.02.004. Epub 2005 Apr 13. Brain Dev. 2005. PMID: 16023556

3

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.

Adachi M, Asakura Y, Matsuo M, Yamamoto T, Hanaki K, Arlt W. Adachi M, et al. Among authors: yamamoto t. Am J Med Genet A. 2006 Mar 15;140(6):633-5. doi: 10.1002/ajmg.a.31112. Am J Med Genet A. 2006. PMID: 16470797 No abstract available.

4

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

5

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.

6

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

7

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.

8

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

9

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

10

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.

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