Kosho T - Search Results

1

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Akazawa Y, Inaba Y, Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosaki K, Kosho T, Koike K. Akazawa Y, et al. Among authors: kosho t. Am J Med Genet A. 2015 Oct;167A(10):2435-9. doi: 10.1002/ajmg.a.37202. Epub 2015 Jun 22. Am J Med Genet A. 2015. PMID: 26096872

2

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: kosho t. Genet Test. 2007 Fall;11(3):216-27. doi: 10.1089/gte.2006.0519. Genet Test. 2007. PMID: 17949281

3

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y. Saito S, et al. Among authors: kosho t. Am J Med Genet A. 2008 Nov 15;146A(22):2891-7. doi: 10.1002/ajmg.a.32556. Am J Med Genet A. 2008. PMID: 18925681

4

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

Muramatsu Y, Kosho T, Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y. Muramatsu Y, et al. Among authors: kosho t. Am J Med Genet A. 2010 Feb;152A(2):417-21. doi: 10.1002/ajmg.a.33263. Am J Med Genet A. 2010. PMID: 20101701

5

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Motobayashi M, et al. Among authors: kosho t. Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407754 Review.

6

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K. Kondo E, et al. Among authors: kosho t. Am J Med Genet A. 2012 Apr;158A(4):772-8. doi: 10.1002/ajmg.a.35243. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407809

7

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T. Nishi E, et al. Among authors: kosho t. Am J Med Genet A. 2015 Feb;167A(2):407-11. doi: 10.1002/ajmg.a.36842. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25423878

8

Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).

Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T. Yoshimura-Furuhata M, et al. Among authors: kosho t. Am J Med Genet A. 2015 Mar;167A(3):592-601. doi: 10.1002/ajmg.a.36942. Am J Med Genet A. 2015. PMID: 25691411 Review.

9

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.

Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. Takano K, et al. Among authors: kosho t. Am J Med Genet A. 2016 Feb;170A(2):322-328. doi: 10.1002/ajmg.a.37432. Epub 2015 Oct 20. Am J Med Genet A. 2016. PMID: 26481852 Review.

10

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.

Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K. Nishi E, et al. Among authors: kosho t. Am J Med Genet A. 2016 Nov;170(11):2889-2894. doi: 10.1002/ajmg.a.37826. Epub 2016 Aug 26. Am J Med Genet A. 2016. PMID: 27566442

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