Torii C - Search Results

1

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K. Maruoka R, et al. Among authors: torii c. Genet Test Mol Biomarkers. 2014 Nov;18(11):722-35. doi: 10.1089/gtmb.2014.0109. Epub 2014 Oct 17. Genet Test Mol Biomarkers. 2014. PMID: 25325900 Free PMC article. Clinical Trial.

2

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: torii c. Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25156961

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 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

6

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

7

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

8

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

9

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T. Mutai H, et al. Among authors: torii c. Orphanet J Rare Dis. 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. Orphanet J Rare Dis. 2013. PMID: 24164807 Free PMC article.

10

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K. Takenouchi T, et al. Among authors: torii c. Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311457 Review.

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