Abe S - Search Results

1

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N. Usami S, et al. Among authors: abe s. Clin Genet. 2012 Dec;82(6):514-20. doi: 10.1111/j.1399-0004.2011.01831.x. Epub 2012 Jan 30. Clin Genet. 2012. PMID: 22288654 Free PMC article.

2

Factors that affect hearing level in individuals with the mitochondrial 1555A.G mutation.

Lu SY, Nishio S, Tsukada K, Oguchi T, Kobayashi K, Abe S, Usami S. Lu SY, et al. Among authors: abe s. Clin Genet. 2009 May;75(5):480-4. doi: 10.1111/j.1399-0004.2008.01138.x. Clin Genet. 2009. PMID: 19475720

3

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Ohtsuka A, Yuge I, Kimura S, Namba A, Abe S, Van Laer L, Van Camp G, Usami S. Ohtsuka A, et al. Among authors: abe s. Hum Genet. 2003 Apr;112(4):329-33. doi: 10.1007/s00439-002-0889-x. Epub 2003 Jan 31. Hum Genet. 2003. PMID: 12560944

4

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

5

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.

Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G. Usami S, et al. Among authors: abe s. Eur J Hum Genet. 2003 Oct;11(10):744-8. doi: 10.1038/sj.ejhg.5201043. Eur J Hum Genet. 2003. PMID: 14512963

6

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

7

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.

8

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S. Naito T, et al. Among authors: abe s. PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013. PLoS One. 2013. PMID: 23717403 Free PMC article.

9

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.

10

High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene.

Abe S, Nagano M, Nishio SY, Kumakawa K, Usami S. Abe S, et al. Otol Neurotol. 2014 Jul;35(6):1087-90. doi: 10.1097/MAO.0000000000000350. Otol Neurotol. 2014. PMID: 24770403

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