Yamaguchi T - Search Results

1

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.

Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI. Sugiyama K, et al. Among authors: yamaguchi t. Genes (Basel). 2019 Sep 16;10(9):715. doi: 10.3390/genes10090715. Genes (Basel). 2019. PMID: 31527525 Free PMC article.

2

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: yamaguchi 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.

3

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI. Moteki H, et al. Among authors: yamaguchi t. Ann Otol Rhinol Laryngol. 2016 Nov;125(11):918-923. doi: 10.1177/0003489416661345. Epub 2016 Jul 28. Ann Otol Rhinol Laryngol. 2016. PMID: 27469136 Free PMC article.

4

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.

Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K. Mizumoto S, et al. Among authors: yamaguchi t. Clin Biochem. 2017 Aug;50(12):670-677. doi: 10.1016/j.clinbiochem.2017.02.018. Epub 2017 Feb 24. Clin Biochem. 2017. PMID: 28238810 Free article.

5

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T. Takano K, et al. Among authors: yamaguchi t. Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12. Eur J Med Genet. 2017. PMID: 28711740

6

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y. Yoshinaga T, et al. Among authors: yamaguchi t. Hum Genome Var. 2017 Oct 26;4:17052. doi: 10.1038/hgv.2017.52. eCollection 2017. Hum Genome Var. 2017. PMID: 29081981 Free PMC article.

7

Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report.

Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H. Uehara M, et al. Among authors: yamaguchi t. Ther Clin Risk Manag. 2018 Jul 16;14:1243-1246. doi: 10.2147/TCRM.S159668. eCollection 2018. Ther Clin Risk Manag. 2018. PMID: 30038498 Free PMC article.

8

Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.

Kobayashi T, Nakamura Y, Suzuki T, Yamaguchi T, Takeda R, Takagi M, Hasegawa T, Kosho T, Kato H. Kobayashi T, et al. Among authors: yamaguchi t. J Clin Med. 2018 Nov 24;7(12):479. doi: 10.3390/jcm7120479. J Clin Med. 2018. PMID: 30477250 Free PMC article.

9

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.

Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y. Ogawa Y, et al. Among authors: yamaguchi t. J Neurol Sci. 2019 Apr 15;399:214-216. doi: 10.1016/j.jns.2019.02.040. Epub 2019 Mar 1. J Neurol Sci. 2019. PMID: 30852237 No abstract available.

10

Frequency and clinical features of hearing loss caused by STRC deletions.

Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI. Yokota Y, et al. Among authors: yamaguchi t. Sci Rep. 2019 Mar 13;9(1):4408. doi: 10.1038/s41598-019-40586-7. Sci Rep. 2019. PMID: 30867468 Free PMC article.

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