Chiharu Torii
Overview
Explore the profile of Chiharu Torii including associated specialties, affiliations and a list of published articles.
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Articles
42
Citations
385
Followers
0
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Recent Articles
1.
Takenouchi T, Sakamoto Y, Torii C, Hata K, Kosaki R, Kosaki K
Am J Med Genet A
. 2015 Mar;
167A(4):907-9.
PMID: 25737399
No abstract available.
2.
Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K
Am J Med Genet A
. 2014 Nov;
167A(1):156-8.
PMID: 25425218
COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). It...
3.
Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, et al.
Genet Test Mol Biomarkers
. 2014 Oct;
18(11):722-35.
PMID: 25325900
Aims: We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis...
4.
Takenouchi T, Sakamoto Y, Miwa T, Torii C, Kosaki R, Kishi K, et al.
Am J Med Genet A
. 2014 Aug;
164A(11):2869-72.
PMID: 25123707
Dysregulation in the RAS signaling cascade results in a family of malformation syndromes called RASopathies. Meanwhile, alterations in FGFR signaling cascade are responsible for various syndromic forms of craniosynostosis. In...
5.
Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, et al.
Congenit Anom (Kyoto)
. 2014 May;
54(4):225-7.
PMID: 24853877
To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed...
6.
Takenouchi T, Sato W, Torii C, Kosaki K
Eur J Med Genet
. 2014 May;
57(7):319-21.
PMID: 24797831
Cleidocranial dysplasia is a skeletal disorder characterized by a defective skull and defective clavicles caused by RUNX2, an activator of osteoblast differentiation. Consistent with the expression pattern of RUNX2, this...
7.
Takenouchi T, Matsuzaki Y, Yamamoto K, Kosaki K, Torii C, Takahashi T, et al.
Eur J Med Genet
. 2014 Apr;
57(6):298-301.
PMID: 24704791
The classification of bone dysplasia has relied on a clinical/radiographic interpretation and the identification of specific genetic alterations. The clinical presentation of the SOX9 mutation and type 2 collagen disorders...
8.
Takenouchi T, Hashida N, Torii C, Kosaki R, Takahashi T, Kosaki K
Am J Med Genet A
. 2014 Jan;
164A(2):456-60.
PMID: 24449200
A growing body of evidence suggests an association between microdeletion/microduplication and schizophrenia/intellectual disability. Abnormal neurogenesis and neurotransmission have been implicated in the pathogenesis of these neuropsychiatric and neurodevelopmental disorders. The...
9.
Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T
Pituitary
. 2013 Dec;
17(6):569-74.
PMID: 24346842
Introduction: Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency...
10.
Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, et al.
Am J Med Genet A
. 2013 Dec;
164A(2):392-6.
PMID: 24311457
Recent advances in genetic diagnostic technologies have made the classic disease nosology highly complicated. This situation is exemplified by rasopathies, among which neurofibromatosis type 1 and Noonan syndrome represent prototypic...