Yamamoto T - Search Results

1

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

Okamoto N, Toribe Y, Shimojima K, Yamamoto T. Okamoto N, et al. Among authors: yamamoto t. Am J Med Genet A. 2016 May;170A(5):1339-42. doi: 10.1002/ajmg.a.37588. Epub 2016 Feb 11. Am J Med Genet A. 2016. PMID: 26866722

2

Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.

Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. Yamamoto T, et al. Am J Med Genet A. 2005 Jun 1;135(2):130-3. doi: 10.1002/ajmg.a.30708. Am J Med Genet A. 2005. PMID: 15832359

3

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

4

A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies.

Yamamoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K. Yamamoto T, et al. Am J Med Genet A. 2006 Jan 1;140(1):88-91. doi: 10.1002/ajmg.a.31055. Am J Med Genet A. 2006. PMID: 16333830

5

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.

Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N. Kawara H, et al. Among authors: yamamoto t. Am J Med Genet A. 2006 Feb 15;140(4):373-7. doi: 10.1002/ajmg.a.31094. Am J Med Genet A. 2006. PMID: 16419130

6

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

Yamamoto T, Sameshima K, Sekido K, Aida N, Matsumoto N, Naritomi K, Kurosawa K. Yamamoto T, et al. Am J Med Genet A. 2006 Jun 15;140(12):1302-4. doi: 10.1002/ajmg.a.31297. Am J Med Genet A. 2006. PMID: 16691595

7

GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H. Sakazume S, et al. Among authors: yamamoto t. Am J Med Genet A. 2007 Aug 1;143A(15):1703-7. doi: 10.1002/ajmg.a.31822. Am J Med Genet A. 2007. PMID: 17603795

8

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Kaname T, et al. Among authors: yamamoto t. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27. Am J Hum Genet. 2007. PMID: 17847009 Free PMC article.

9

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

10

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

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