Kobayashi Y - Search Results

1

Mutations in LOXHD1 gene cause various types and severities of hearing loss.

Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S. Mori K, et al. Among authors: kobayashi y. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):135S-41S. doi: 10.1177/0003489415574067. Epub 2015 Mar 19. Ann Otol Rhinol Laryngol. 2015. PMID: 25792669 Free PMC article.

2

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

Oguchi T, Ohtsuka A, Hashimoto S, Oshima A, Abe S, Kobayashi Y, Nagai K, Matsunaga T, Iwasaki S, Nakagawa T, Usami SI. Oguchi T, et al. Among authors: kobayashi y. J Hum Genet. 2005;50(2):76-83. doi: 10.1007/s10038-004-0223-7. Epub 2005 Feb 8. J Hum Genet. 2005. PMID: 15700112

3

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S, Nishio SY, Nagano M, Abe S, Yamaguchi T; Deafness Gene Study Consortium. Usami S, et al. PLoS One. 2012;7(2):e31276. doi: 10.1371/journal.pone.0031276. Epub 2012 Feb 24. PLoS One. 2012. PMID: 22384008 Free PMC article.

4

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening.

Yano T, Nishio SY, Usami S; Deafness Gene Study Consortium. Yano T, et al. J Hum Genet. 2014 Feb;59(2):100-6. doi: 10.1038/jhg.2013.128. Epub 2014 Jan 9. J Hum Genet. 2014. PMID: 24401907 Free PMC article. Clinical Trial.

5

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Miyagawa M, Nishio SY, Usami S; Deafness Gene Study Consortium. Miyagawa M, et al. J Hum Genet. 2014 May;59(5):262-8. doi: 10.1038/jhg.2014.12. Epub 2014 Mar 6. J Hum Genet. 2014. PMID: 24599119 Free PMC article.

6

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S. Yoshimura H, et al. Among authors: kobayashi y. PLoS One. 2014 Mar 11;9(3):e90688. doi: 10.1371/journal.pone.0090688. eCollection 2014. PLoS One. 2014. PMID: 24618850 Free PMC article.

7

Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.

Miyagawa M, Nishio SY, Hattori M, Moteki H, Kobayashi Y, Sato H, Watanabe T, Naito Y, Oshikawa C, Usami S. Miyagawa M, et al. Among authors: kobayashi y. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:158S-68S. doi: 10.1177/0003489415575058. Epub 2015 Mar 19. Ann Otol Rhinol Laryngol. 2015. PMID: 25792667

8

Cochlear implant function in a patient with Jervell and Lange-Nielsen syndrome after defibrillation by countershock.

Kaneshiro S, Hiraumi H, Shimamoto K, Sasamori K, Kobayashi Y, Sato H. Kaneshiro S, et al. Among authors: kobayashi y. Auris Nasus Larynx. 2018 Aug;45(4):890-893. doi: 10.1016/j.anl.2017.11.017. Epub 2018 Mar 24. Auris Nasus Larynx. 2018. PMID: 29588140

9

Body balance function of cochlear implant patients with and without sound conditions.

Oikawa K, Kobayashi Y, Hiraumi H, Yonemoto K, Sato H. Oikawa K, et al. Among authors: kobayashi y. Clin Neurophysiol. 2018 Oct;129(10):2112-2117. doi: 10.1016/j.clinph.2018.07.018. Epub 2018 Aug 2. Clin Neurophysiol. 2018. PMID: 30096566

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: kobayashi y. 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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