Kobayashi Y - Search Results

1

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.

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

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.

9

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M, Nishio SY, Moteki H, Takumi Y, Miyagawa M, Sato T, Kobayashi Y, Ohyama K, Oda K, Matsui T, Ito T, Suzumura H, Nagai K, Izumi S, Nishiyama N, Komori M, Kumakawa K, Takeda H, Kishimoto Y, Iwasaki S, Furutate S, Ishikawa K, Fujioka M, Nakanishi H, Nakayama J, Horie R, Ohta Y, Naito Y, Kakudo M, Sakaguchi H, Kataoka Y, Sugahara K, Hato N, Nakagawa T, Tsuchihashi N, Kanda Y, Kihara C, Tono T, Miyanohara I, Ganaha A, Usami SI. Ideura M, et al. Among authors: kobayashi y. Sci Rep. 2019 Aug 19;9(1):11976. doi: 10.1038/s41598-019-47141-4. Sci Rep. 2019. PMID: 31427586 Free PMC article.

10

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: kobayashi y. Genes (Basel). 2019 Sep 16;10(9):715. doi: 10.3390/genes10090715. Genes (Basel). 2019. PMID: 31527525 Free PMC article.

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