Torii C - Search Results

1

Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.

Kosaki R, Naito Y, Torii C, Takahashi T, Nakajima T, Kosaki K. Kosaki R, et al. Among authors: torii c. Am J Med Genet A. 2008 Oct 1;146A(19):2574-7. doi: 10.1002/ajmg.a.32415. Am J Med Genet A. 2008. PMID: 18792980 No abstract available.

2

Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval.

Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T. Kosaki K, et al. Among authors: torii c. Am J Med Genet A. 2011 Sep;155A(9):2212-4. doi: 10.1002/ajmg.a.33908. Epub 2011 Aug 3. Am J Med Genet A. 2011. PMID: 21815246

3

EEC syndrome-like phenotype in a patient with an IRF6 mutation.

Kosaki R, Kaneko T, Torii C, Kosaki K. Kosaki R, et al. Among authors: torii c. Am J Med Genet A. 2012 May;158A(5):1219-20. doi: 10.1002/ajmg.a.35273. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488974 No abstract available.

4

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: torii c. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.

5

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: torii c. Am J Med Genet A. 2013 Dec;161A(12):3057-62. doi: 10.1002/ajmg.a.36157. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039054

6

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.

7

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.

Takenouchi T, Sakamoto Y, Miwa T, Torii C, Kosaki R, Kishi K, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: torii c. Am J Med Genet A. 2014 Nov;164A(11):2869-72. doi: 10.1002/ajmg.a.36705. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25123707

8

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: torii c. Am J Med Genet A. 2015 Jan;167A(1):156-8. doi: 10.1002/ajmg.a.36823. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425218

9

[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.

10

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

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