Torii C - Search Results

1

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: torii c. Genet Test. 2006 Winter;10(4):265-71. doi: 10.1089/gte.2006.10.265. Genet Test. 2006. PMID: 17253932

2

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography.

Udaka T, Torii C, Takahashi D, Mori T, Aramaki M, Kosaki R, Tanigawara Y, Takahashi T, Kosaki K. Udaka T, et al. Among authors: torii c. Genet Test. 2005 Summer;9(2):85-92. doi: 10.1089/gte.2005.9.85. Genet Test. 2005. PMID: 15943548

3

[Molecular diagnosis of multiple malformation syndrome].

Torii C, Kosaki K. Torii C, et al. Nihon Rinsho. 2005 Dec;63 Suppl 12:431-6. Nihon Rinsho. 2005. PMID: 16416829 Review. Japanese. No abstract available.

4

Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.

Aramaki M, Udaka T, Torii C, Samejima H, Kosaki R, Takahashi T, Kosaki K. Aramaki M, et al. Among authors: torii c. Genet Test. 2006 Winter;10(4):244-51. doi: 10.1089/gte.2006.10.244. Genet Test. 2006. PMID: 17253929

5

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K. Samejima H, et al. Among authors: torii c. Genet Test. 2007 Fall;11(3):216-27. doi: 10.1089/gte.2006.0519. Genet Test. 2007. PMID: 17949281

6

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements.

Udaka T, Imoto I, Aizu Y, Torii C, Izumi K, Kosaki R, Takahashi T, Hayashi S, Inazawa J, Kosaki K. Udaka T, et al. Among authors: torii c. Genet Test. 2007 Fall;11(3):241-8. doi: 10.1089/gte.2007.9993. Genet Test. 2007. PMID: 17949285

7

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay.

Hattori M, Torii C, Yagihashi T, Izumi K, Suda N, Ohyama K, Takahashi T, Moriyama K, Kosaki K. Hattori M, et al. Among authors: torii c. Genet Test Mol Biomarkers. 2009 Oct;13(5):623-30. doi: 10.1089/gtmb.2009.0018. Genet Test Mol Biomarkers. 2009. PMID: 19814617

8

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K. Torii C, et al. Congenit Anom (Kyoto). 2007 Mar;47(1):49-52. doi: 10.1111/j.1741-4520.2006.00140.x. Congenit Anom (Kyoto). 2007. PMID: 17300690

9

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome.

Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: torii c. Am J Med Genet A. 2007 Apr 1;143A(7):721-6. doi: 10.1002/ajmg.a.31441. Am J Med Genet A. 2007. PMID: 17334995

10

Microdeletion of the Down syndrome critical region at 21q22.

Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K. Fujita H, et al. Among authors: torii c. Am J Med Genet A. 2010 Apr;152A(4):950-3. doi: 10.1002/ajmg.a.33228. Am J Med Genet A. 2010. PMID: 20358607

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