Abe S - Search Results

1

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: abe s. Acta Otolaryngol. 2007 Dec;127(12):1292-7. doi: 10.1080/00016480701258739. Acta Otolaryngol. 2007. PMID: 17851929

2

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Tsukamoto K, et al. Among authors: abe s. Eur J Hum Genet. 2003 Dec;11(12):916-22. doi: 10.1038/sj.ejhg.5201073. Eur J Hum Genet. 2003. PMID: 14508505

3

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: abe s. 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

4

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S. Usami S, et al. Among authors: abe s. Acta Otolaryngol. 2008 Apr;128(4):446-54. doi: 10.1080/00016480701785046. Acta Otolaryngol. 2008. PMID: 18368581 Review.

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. Among authors: abe s. 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

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: abe s. BMC Med Genet. 2013 Sep 22;14:95. doi: 10.1186/1471-2350-14-95. BMC Med Genet. 2013. PMID: 24053799 Free PMC article.

7

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI. Iwasa YI, et al. Among authors: abe s. PLoS One. 2019 May 16;14(5):e0215932. doi: 10.1371/journal.pone.0215932. eCollection 2019. PLoS One. 2019. PMID: 31095577 Free PMC article.

8

[A case of enlarged vestibular aqueduct syndrome with PDS gene mutations].

Kiyomizu K, Tsuboi Y, Tono T, Komune S, Abe S, Shinkawa H, Tsukamoto K, Usami S. Kiyomizu K, et al. Among authors: abe s. Nihon Jibiinkoka Gakkai Kaiho. 2002 Feb;105(2):174-7. doi: 10.3950/jibiinkoka.105.174. Nihon Jibiinkoka Gakkai Kaiho. 2002. PMID: 11905055 Japanese.

9

Molecular diagnosis of deafness: impact of gene identification.

Usami S, Koda E, Tsukamoto K, Otsuka A, Yuge I, Asamura K, Abe S, Akita J, Namba A. Usami S, et al. Among authors: abe s. Audiol Neurootol. 2002 May-Jun;7(3):185-90. doi: 10.1159/000058308. Audiol Neurootol. 2002. PMID: 12053143

10

Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.

Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S. Asamura K, et al. Among authors: abe s. Auris Nasus Larynx. 2005 Jun;32(2):113-7. doi: 10.1016/j.anl.2005.01.011. Epub 2005 Mar 24. Auris Nasus Larynx. 2005. PMID: 15917166

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