Kanda Y - Search Results

1

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.

Maekawa K, Nishio SY, Abe S, Goto SI, Honkura Y, Iwasaki S, Kanda Y, Kobayashi Y, Oka SI, Okami M, Oshikawa C, Sakuma N, Sano H, Shirakura M, Uehara N, Usami SI. Maekawa K, et al. Among authors: kanda y. Genes (Basel). 2019 Sep 23;10(10):735. doi: 10.3390/genes10100735. Genes (Basel). 2019. PMID: 31547530 Free PMC article.

2

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Fukuoka H, Kanda Y, Ohta S, Usami SI. Fukuoka H, et al. Among authors: kanda y. J Hum Genet. 2007;52(6):510-515. doi: 10.1007/s10038-007-0144-3. Epub 2007 May 11. J Hum Genet. 2007. PMID: 17492394

3

Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.

Suzuki H, Oshima A, Tsukamoto K, Abe S, Kumakawa K, Nagai K, Satoh H, Kanda Y, Iwasaki S, Usami S. Suzuki H, et al. Among authors: kanda y. Acta Otolaryngol. 2007 Dec;127(12):1292-7. doi: 10.1080/00016480701258739. Acta Otolaryngol. 2007. PMID: 17851929

4

A large cohort study of GJB2 mutations in Japanese hearing loss patients.

Tsukada K, Nishio S, Usami S; Deafness Gene Study Consortium. Tsukada K, et al. Clin Genet. 2010 Nov;78(5):464-70. doi: 10.1111/j.1399-0004.2010.01407.x. Clin Genet. 2010. PMID: 20497192

5

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.

6

An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.

Yoshimura H, Iwasaki S, Kanda Y, Nakanishi H, Murata T, Iwasa Y, Nishio SY, Takumi Y, Usami S. Yoshimura H, et al. Among authors: kanda y. Int J Pediatr Otorhinolaryngol. 2013 Feb;77(2):298-302. doi: 10.1016/j.ijporl.2012.11.007. Epub 2012 Dec 11. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23237960

7

Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations.

Yoshida H, Takahashi H, Kanda Y, Usami S. Yoshida H, et al. Among authors: kanda y. Auris Nasus Larynx. 2013 Oct;40(5):435-9. doi: 10.1016/j.anl.2013.01.006. Epub 2013 Mar 9. Auris Nasus Larynx. 2013. PMID: 23477838

8

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.

Iwasa Y, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S. Iwasa Y, et al. Among authors: kanda y. BMC Med Genet. 2013 Sep 22;14:95. doi: 10.1186/1471-2350-14-95. BMC Med Genet. 2013. PMID: 24053799 Free PMC article.

9

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.

10

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.

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