博士（理学）, 信州大学

Otorhinolaryngology, Otorhinolaryngology

Phylogeny and biogeography of arctic-alpine butterflies of the genus Oeneis (Nymphalidae: Satyrinae)
Usami, Shin-ichi; Isaka, Yuichi; Nishio, Shin-ya; Nakatani, Takatoshi; Itoh, Tateo;
Entomological Science, 24(2), 183-195, Jun. 2021

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
Miyoshi, Takushi; Belyantseva, Inna A.; Kitajiri, Shin-Ichiro; Miyajima, Hiroki; Nishio, Shin-Ya; Usami, Shin-Ichi; Kim, Bong Jik; Choi, Byung Yoon; Omori, Koichi; Shroff, Hari; Friedman, Thomas B.;
Human Genetics, 2021

Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A > G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip
Isaka, Yuichi; Nishio, Shin-ya; Hishinuma, Eiji; Hiratsuka, Masahiro; Usami, Shin-ichi;
GENETIC TESTING AND MOLECULAR BIOMARKERS, 25(1), 79-83, 2021

Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable)
Nishio, Shin-ya; Tono, Tetsuya; Iwaki, Takako; Moteki, Hideaki; Suzuki, Kumiko; Tsushima, Yui; Kashio, Akinori; Akamatsu, Yusuke; Sato, Hiroaki; Yaegashi, Keiko; Takeda, Hidehiko; Kumagai, Fumiai; Nakashima, Takahiro; Matsuda, Yusuke; Hato, Naohito; Dairoku, Teppei; Shiroma, Masae; Kawai, Ryosuke; Usami, Shin-ichi;
ACTA OTO-LARYNGOLOGICA, 141(3), 267-272, 2021

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
Walls, W. Daniel; Moteki, Hideaki; Thomas, Taylor R.; Nishio, Shin-ya; Yoshimura, Hidekane; Iwasa, Yoichiro; Frees, Kathy L.; Nishimura, Carla J.; Azaiez, Hela; Booth, Kevin T.; Marini, Robert J.; Kolbe, Diana L.; Weaver, A. Monique; Schaefer, Amanda M.; Wang, Kai; Braun, Terry A.; Usami, Shin-ichi; Barr-Gillespie, Peter G.; Richardson, Guy P.; Smith, Richard J.; Casavant, Thomas L.;
Human Genetics, 139(10), 1315-1323, Oct. 2020

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4
Fujioka, Masato; Akiyama, Takumi; Hosoya, Makoto; Kikuchi, Kayoko; Fujiki, Yuto; Saito, Yasuko; Yoshihama, Keisuke; Ozawa, Hiroyuki; Tsukada, Keita; Nishio, Shin-ya; Usami, Shin-ichi; Matsunaga, Tatsuo; Hasegawa, Tomonobu; Sato, Yasunori; Ogawa, Kaoru;
MEDICINE, 99(19), May 2020

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss
Oka, Shin-ichiro; Day, Timothy F.; Nishio, Shin-ya; Moteki, Hideaki; Miyagawa, Maiko; Morita, Shinya; Izumi, Shuji; Ikezono, Tetsuo; Abe, Satoko; Nakayama, Jun; Hyogo, Misako; Okamoto, Nobuhiko; Uehara, Natsumi; Oshikawa, Chie; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
Genes, 11(3), Mar. 2020

Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
Shinagawa, Jun; Moteki, Hideaki; Nishio, Shin-ya; Noguchi, Yoshihiro; Usami, Shin-ichi;
Genes, 11(3), Mar. 2020

Cochlear Implantation From the Perspective of Genetic Background
Usami, Shin-ichi; Nishio, Shin-ya; Moteki, Hideaki; Miyagawa, Maiko; Yoshimura, Hidekane;
ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, 303(3), 563-593, Mar. 2020

Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing
Yoshimura, Hidekane; Moteki, Hideaki; Nishio, Shin-ya; Usami, Shin-ichi;
ACTA OTO-LARYNGOLOGICA, 140(8), 632-638, 2020

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
Walls, W. Daniel; Moteki, Hideaki; Thomas, Taylor R.; Nishio, Shin-ya; Yoshimura, Hidekane; Iwasa, Yoichiro; Frees, Kathy L.; Nishimura, Carla J.; Azaiez, Hela; Booth, Kevin T.; Marini, Robert J.; Kolbe, Diana L.; Weaver, A. Monique; Schaefer, Amanda M.; Wang, Kai; Braun, Terry A.; Usami, Shin-ichi; Barr-Gillespie, Peter G.; Richardson, Guy P.; Smith, Richard J.; Casavant, Thomas L.;
Human Genetics, 2020

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss
Miyajima, Hiroki; Moteki, Hideaki; Day, Timothy; Nishio, Shin-ya; Murata, Takaaki; Ikezono, Tetsuo; Takeda, Hidehiko; Abe, Satoko; Iwasaki, Satoshi; Takahashi, Masahiro; Naito, Yasushi; Yamazaki, Hiroshi; Kanda, Yukihiko; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
SCIENTIFIC REPORTS, 10(1), 2020

Genetic testing has the potential to impact hearing preservation following cochlear implantation
Yoshimura, Hidekane; Moteki, Hideaki; Nishio, Shin-ya; Miyajima, Hiroki; Miyagawa, Maiko; Usami, Shin-ichi;
ACTA OTO-LARYNGOLOGICA, 140(6), 438-444, 2020

Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort
Kitoh, Ryosuke; Nishio, Shin-Ya; Usami, Shin-Ichi;
ACTA OTO-LARYNGOLOGICA, 140(1), 32-39, 2020

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
Yasukawa, Rika; Moteki, Hideaki; Nishio, Shin-ya; Ishikawa, Kotaro; Abe, Satoko; Honkura, Yohei; Hyogo, Misako; Mihashi, Ryota; Ikezono, Tetsuo; Shintani, Tomoko; Ogasawara, Noriko; Shirai, Kyoko; Yoshihashi, Hiroshi; Ishino, Takashi; Otsuki, Koshi; Ito, Tsukasa; Sugahara, Kazuma; Usami, Shin-ichi;
Genes, 10(10), Oct. 2019

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort
Maekawa, Karuna; Nishio, Shin-ya; Abe, Satoko; Goto, Shin-ichi; Honkura, Yohei; Iwasaki, Satoshi; Kanda, Yukihiko; Kobayashi, Yumiko; Oka, Shin-ichiro; Okami, Mayuri; Oshikawa, Chie; Sakuma, Naoko; Sano, Hajime; Shirakura, Masayuki; Uehara, Natsumi; Usami, Shin-ichi;
Genes, 10(10), Oct. 2019

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Sugiyama, Kenjiro; Moteki, Hideaki; Kitajiri, Shin-ichiro; Kitano, Tomohiro; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Abe, Satoko; Ozaki, Akiko; Motegi, Remi; Matsui, Hirooki; Teraoka, Masato; Kobayashi, Yumiko; Kosho, Tomoki; Usami, Shin-ichi;
Genes, 10(9), Sep. 2019

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
Iwasa, Yoh-ichiro; Nishio, Shin-ya; Sugaya, Akiko; Kataoka, Yuko; Kanda, Yukihiko; Taniguchi, Mirei; Nagai, Kyoko; Naito, Yasushi; Ikezono, Tetsuo; Horie, Rie; Sakurai, Yuika; Matsuoka, Rina; Takeda, Hidehiko; Abe, Satoko; Kihara, Chiharu; Ishino, Takashi; Morita, Shin-ya; Iwasaki, Satoshi; Takahashi, Masahiro; Ito, Tsukasa; Arai, Yasuhiro; Usami, Shin-ichi;
PLOS ONE, 14(5), 2019

Frequency and clinical features of hearing loss caused by STRC deletions
Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;
SCIENTIFIC REPORTS, 9, 2019

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant
Kitano, Tomohiro; Kitajiri, Shin-ichiro; Nishio, Shin-ya; Usami, Shin-ichi;
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 20(18), 2019

Comprehensive analysis of syndromic hearing loss patients in Japan
Ideura, Michie; Nishio, Shin-ya; Moteki, Hideaki; Takumi, Yutaka; Miyagawa, Maiko; Sato, Teruyuki; Kobayashi, Yumiko; Ohyama, Kenji; Oda, Kiyoshi; Matsui, Takamichi; Ito, Tsukasa; Suzumura, Hiroshi; Nagai, Kyoko; Izumi, Shuji; Nishiyama, Nobuhiro; Komori, Manabu; Kumakawa, Kozo; Takeda, Hidehiko; Kishimoto, Yoko; Iwasaki, Satoshi; Furutate, Sakiko; Ishikawa, Kotaro; Fujioka, Masato; Nakanishi, Hiroshi; Nakayama, Jun; Horie, Rie; Ohta, Yumi; Naito, Yasushi; Kakudo, Mariko; Sakaguchi, Hirofumi; Kataoka, Yuko; Sugahara, Kazuma; Hato, Naohito; Nakagawa, Takashi; Tsuchihashi, Nana; Kanda, Yukihiko; Kihara, Chiharu; Tono, Tetsuya; Miyanohara, Ikuyo; Ganaha, Akira; Usami, Shin-ichi;
SCIENTIFIC REPORTS, 9, 2019

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients
Iwasa, Yoh-ichiro; Nishio, Shin-ya; Sugaya, Akiko; Kataoka, Yuko; Kanda, Yukihiko; Taniguchi, Mirei; Nagai, Kyoko; Naito, Yasushi; Ikezono, Tetsuo; Horie, Rie; Sakurai, Yuika; Matsuoka, Rina; Takeda, Hidehiko; Abe, Satoko; Kihara, Chiharu; Ishino, Takashi; Morita, Shin-ya; Iwasaki, Satoshi; Takahashi, Masahiro; Ito, Tsukasa; Arai, Yasuhiro; Usami, Shin-ichi;
PLOS ONE, 14(5), 2019

Frequency and clinical features of hearing loss caused by STRC deletions
Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;
SCIENTIFIC REPORTS, 9, 2019

Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel
Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;
MOLECULAR GENETICS & GENOMIC MEDICINE, 6(4), 678-686, Jul. 2018

Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes
Moteki, Hideaki; Nishio, Shin-Ya; Miyagawa, Maiko; Tsukada, Keita; Noguchi, Yoshihiro; Usami, Shin-Ichi;
ACTA OTO-LARYNGOLOGICA, 138(12), 1080-1085, 2018

A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening
Moteki, Hideaki; Isaka, Yuichi; Inaba, Yuji; Motobayashi, Mitsuo; Nishio, Shin-Ya; Ohira, Satoshi; Yano, Takuya; Iwasaki, Satoshi; Shiozawa, Tanri; Koike, Kenichi; Usami, Shin-lchi;
ACTA OTO-LARYNGOLOGICA, 138(8), 708-712, 2018

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
Kobayashi, Masafumi; Miyagawa, Maiko; Nishio, Shin-ya; Moteki, Hideaki; Fujikawa, Taro; Ohyama, Kenji; Sakaguchi, Hirofumi; Miyanohara, Ikuyo; Sugaya, Akiko; Naito, Yasushi; Morita, Shin-ya; Kanda, Yukihiko; Takahashi, Masahiro; Ishikawa, Kotaro; Nagano, Yuki; Tono, Tetsuya; Oshikawa, Chie; Kihara, Chiharu; Takahashi, Haruo; Noguchi, Yoshihiro; Usami, Shin-ichi;
PLOS ONE, 13(3), 2018

Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries.
Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;
ACTA OTO-LARYNGOLOGICA, 138, 320-331, 2018

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
Kobayashi, Masafumi; Miyagawa, Maiko; Nishio, Shin-ya; Moteki, Hideaki; Fujikawa, Taro; Ohyama, Kenji; Sakaguchi, Hirofumi; Miyanohara, Ikuyo; Sugaya, Akiko; Naito, Yasushi; Morita, Shin-ya; Kanda, Yukihiko; Takahashi, Masahiro; Ishikawa, Kotaro; Nagano, Yuki; Tono, Tetsuya; Oshikawa, Chie; Kihara, Chiharu; Takahashi, Haruo; Noguchi, Yoshihiro; Usami, Shin-ichi;
PLOS ONE, 13(3), 2018

Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries (Reprinted from Acta oto-Laryngologica, vol 134, pg 717, 2014)
Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;
ACTA OTO-LARYNGOLOGICA, 138(3), 317-328, 2018

Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.
Nishio SY, Usami SI.
Acta Otolaryngol, 137(7), 730-742, Jul. 2017

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI.
PLOS ONE, 12(5), e0177636, May 2017

Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.
Moteki H, Nishio SY, Miyagawa M, Tsukada K, Iwasaki S, Usami SI.
Acta Otolaryngol, 137(5), 516-521, May 2017

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Nishio SY, Takumi Y, Usami SI.
Hear Res, 348, 87-97, May 2017

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Nishio SY, Usami SI.
Hum Mutat, 38(3), 252-259, Mar. 2017

Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis.
Wada T, Sano H, Nishio SY, Kitoh R, Ikezono T, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Suzuki M, Takahashi H, Tono T, Yamashita H, Hara A, Usami SI.
Acta Otolaryngol, 137(sup565), S48-S52, 2017

Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan.
Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, et al.
Acta Otolaryngol, 137(sup565), S8-S16, 2017

A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases.
Matsuda H, Sakamoto K, Matsumura T, Saito S, Shindo S, Fukushima K, Nishio SY, Kitoh R, Shibasaki O, Ito A, Araki R, Usami SI, Suzuki M, Ogawa K, Hasegawa T, Hagiwara Y, Kase Y, Ikezono T.
Acta Otolaryngol, 137(sup565), S53-S59, 2017

Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan.
Yoshida T, Sone M, Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.
Acta Otolaryngol, 137(sup565), S38-S43, 2017

Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients.
Umesawa M, Kobashi G, Kitoh R, Nishio SY, Ogawa K, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.
Acta Otolaryngol, 137(sup565), S17-S23, 2017

Epidemiological survey of acute low-tone sensorineural hearing loss.
Sato H, Kuwashima S, Nishio SY, Kitoh R, Fukuda S, Hara A, Hato N, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Ogawa K, Sano H, Sone M, Shojaku H, et al.
Acta Otolaryngol, 137(sup565), S34-S37, 2017

Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss.
Kitoh R, Nishio SY, Usami SI.
Acta Otolaryngol, 137(sup565), S24-S29, 2017

Etiology of single-sided deafness and asymmetrical hearing loss.
Usami SI, Kitoh R, Moteki H, Nishio SY, Kitano T, Kobayashi M, Shinagawa J, Yokota Y, Sugiyama K, Watanabe K.
Acta Otolaryngol, 137(sup565), S2-S7, 2017

The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan.
Okada M, Hato N, Nishio SY, Kitoh R, Ogawa K, Kanzaki S, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.
Acta Otolaryngol, 137(sup565), S30-S33, 2017

The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan.
Morita S, Fujiwara K, Fukuda A, Fukuda S, Nishio SY, Kitoh R, Hato N, Ikezono T, Ishikawa K, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nishizaki K, Ogawa K, Sano H, Sato H, Sone M, Suzuki M, Takahashi H, Tono T, et al.
Acta Otolaryngol, 137(sup565), S44-S47, 2017

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss
Kitano, Tomohiro; Miyagawa, Maiko; Nishio, Shin-ya; Moteki, Hideaki; Oda, Kiyoshi; Ohyama, Kenji; Miyazaki, Hiromitsu; Hidaka, Hiroshi; Nakamura, Ken-ichi; Murata, Takaaki; Matsuoka, Rina; Ohta, Yoko; Nishiyama, Nobuhiro; Kumakawa, Kozo; Furutate, Sakiko; Iwasaki, Satoshi; Yamada, Takechiyo; Ohta, Yumi; Uehara, Natsumi; Noguchi, Yoshihiro; Usami, Shin-ichi;
PLOS ONE, 12(5), 2017

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
Iwasa YI, Nishio SY, Usami SI.
PLOS ONE, 11(12), e0166781, Dec. 2016

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.
Ann Otol Rhinol Laryngol, 125(11), 918-923, Nov. 2016

Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
Ueyama T, Ninoyu Y, Nishio SY, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami SI, Saito N, Kitajiri SI.
EMBO Mol Med, 8(11), 1310-1324, Nov. 2016

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
PLOS ONE, 11(9), e0162230, Sep. 2016

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S.
J Hum Genet, 61(5), 419-22, May 2016

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S.
J Hum Genet, 61(3), 253-61, Mar. 2016

A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.
Miyagawa M, Nishio SY, Usami S.
Otol Neurotol, 37(2), e126-34, Feb. 2016

Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection.
Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio SY, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.
Pediatr Neurol, 55, 52-7, Feb. 2016

SOD1 gene polymorphisms in sudden sensorineural hearing loss.
Kitoh R, Nishio SY, Ogawa K, Okamoto M, Kitamura K, Gyo K, Sato H, Nakashima T, Fukuda S, Fukushima K, Hara A, Yamasoba T, Usami S.
Acta Otolaryngol, 136(5), 465-9, 2016

Advances in Molecular Genetics and the Molecular Biology of Deafness.
Nishio SY, Schrauwen I, Moteki H, Azaiez H.
Biomed Res Int, 2016, 5629093, 2016

Novel Mutations in GRXCRI at DFNB25 Lead to Progressive Hearing Loss and Dizziness
Mori, Kentaro; Miyanohara, Ikuyo; Moteki, Hideaki; Nishio, Shin-ya; Kurono, Yuichi; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 129S-134S, May 2015

Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis
Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 158S-168S, May 2015

Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
Sakuma, Naoko; Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Takahashi, Masahiro; Arai, Yasuhiro; Shearer, A. Eliot; Sloan, Christina M.; Nishio, Shin-ya; Kolbe, Diana L.; Iwasaki, Satoshi; Oridate, Nobuhiko; Smith, Richard J. H.; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 184S-192S, May 2015

Mutations in LOXHDI Gene Cause Various Types and Severities of Hearing Loss
Mori, Kentaro; Moteki, Hideaki; Kobayashi, Yumiko; Azaiez, Hela; Booth, Kevin T.; Nishio, Shin-ya; Sato, Hiroaki; Smith, Richard J. H.; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 135S-141S, May 2015

Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics
Miyagawa, Maiko; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 148S-157S, May 2015

Germinal Mosaicism in a Family With BO Syndrome
Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Takumi, Yutaka; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 118S-122S, May 2015

Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance
Ichinose, Aya; Moteki, Hideaki; Hattori, Mitsuru; Nishio, Shin-ya; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 142S-147S, May 2015

Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients
Iwasa, Yoh-ichiro; Moteki, Hideaki; Hattori, Mitsuru; Sato, Ririko; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 111s-117S, May 2015

Detailed hearing and vestibular profiles in the patients with COCH mutations
Tsukada, Keita; Ichinose, Aya; Miyagawa, Maiko; Mori, Kentaro; Hattori, Mitsuru; Nishio, Shin-ya; Naito, Yasushi; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 100S-110S, May 2015

The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation
Miyagawa, Maiko; Nishio, Shin-ya; Sakurai, Yuika; Hattori, Mitsuru; Tsukada, Keita; Moteki, Hideaki; Kojima, Hiromi; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 193S-204S, May 2015

Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness
Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-ya; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 77S-83S, May 2015

Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan
Nishio, Shin-ya; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 49S-60S, May 2015

Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing
Miyagawa, Maiko; Nishio, Shin-ya; Ichinose, Aya; Iwasaki, Satoshi; Murata, Takaaki; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 84S-93S, May 2015

Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
Tsukada, Keita; Nishio, Shin-ya; Hattori, Mitsuru; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 61S-76S, May 2015

Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness
Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Naito, Takehiko; Yoshimura, Hidekane; Iwasa, Yoh-ichiro; Mori, Kentaro; Shima, Yutaka; Sakuma, Naoko; Usami, Shin-ichi;
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 124, 6S-48S, May 2015

The advantages of sound localization and speech perception of bilateral electric acoustic stimulation
Moteki, Hideaki; Kitoh, Ryosuke; Tsukada, Keita; Iwasaki, Satoshi; Nishio, Shin-Ya; Usami, Shin-Ichi;
ACTA OTO-LARYNGOLOGICA, 135(2), 147-153, Feb. 2015

Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
Nishio, Shin-Ya; Hayashi, Yoshiharu; Watanabe, Manabu; Usami, Shin-Ichi;
GENETIC TESTING AND MOLECULAR BIOMARKERS, 19(4), 209-217, 2015

難聴における遺伝子医療の現状 : ゲノム医療のモデルとして (第1土曜特集 遺伝子医療の現状とゲノム医療の近未来) -- (遺伝子医療の現状)
西尾 信哉; 宇佐美 真一;
医学のあゆみ, 250(5), 371-377, 02 Aug. 2014

Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries
Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;
ACTA OTO-LARYNGOLOGICA, 134(7), 717-727, Jul. 2014

High-Frequency Involved Hearing Loss Caused by Novel Mitochondrial DNA Mutation in 16S Ribosomal RNA Gene
Abe, Satoko; Nagano, Makoto; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;
OTOLOGY & NEUROTOLOGY, 35(6), 1087-1090, Jul. 2014

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations
Ishikawa, Kotaro; Naito, Takehiko; Nishio, Shin-Ya; Iwasa, Yoh-Ichiro; Nakamura, Ken-Ichi; Usami, Shin-Ichi; Ichimura, Keiichi;
ACTA OTO-LARYNGOLOGICA, 134(6), 557-563, Jun. 2014

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;
JOURNAL OF HUMAN GENETICS, 59(5), 262-268, May 2014

Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection
Moteki, Hideaki; Suzuki, Mika; Naito, Yasushi; Fujiwara, Keizo; Oguchi, Kazuhiro; Nishio, Shin-ya; Iwasaki, Satoshi; Usami, Shin-ichi;
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 78(2), 285-289, Feb. 2014

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening
Yano, Takuya; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;
JOURNAL OF HUMAN GENETICS, 59(2), 100-106, Feb. 2014

Gene Expression Pattern after Insertion of Dexamethasone-Eluting Electrode into the Guinea Pig Cochlea
Takumi, Yutaka; Nishio, Shin-ya; Mugridge, Kenneth; Oguchi, Tomohiro; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Iwasaki, Satoshi; Jolly, Claude; Usami, Shin-ichi;
PLOS ONE, 9(10), 2014

Ubiquinol-10 supplementation activates mitochondria functions to decelerate senescence in senescence-accelerated mice
Tian, Geng; Sawashita, Jinko; Kubo, Hiroshi; Nishio, Shin-ya; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Yoshimura, Hidekane; Tsuruoka, Mineko; Wang, Yaoyong; Liu, Yingye; Luo, Hongming; Xu, Zhe; Mori, Masayuki; Kitano, Mitsuaki; Hosoe, Kazunori; Takeda, Toshio; Usami, Shin-ichi; Higuchi, Keiichi;
ANTIOXIDANTS & REDOX SIGNALING, 20(16), 2606-2620, 2014

Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis
Yoshimura, Hidekane; Takumi, Yutaka; Nishio, Shin-ya; Suzuki, Nobuyoshi; Iwasa, Yoh-ichiro; Usami, Shin-ichi;
PLOS ONE, 9(3), 2014

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
Yoshimura, Hidekane; Iwasaki, Satoshi; Nishio, Shin-ya; Kumakawa, Kozo; Tono, Tetsuya; Kobayashi, Yumiko; Sato, Hiroaki; Nagai, Kyoko; Ishikawa, Kotaro; Ikezono, Tetsuo; Naito, Yasushi; Fukushima, Kunihiro; Oshikawa, Chie; Kimitsuki, Takashi; Nakanishi, Hiroshi; Usami, Shin-ichi;
PLOS ONE, 9(3), 2014

日本人難聴遺伝子変異データベースの構築と臨床応用
西尾 信哉; 宮川 麻衣子; 内藤 武彦; 岩佐 陽一郎; 市瀬 彩; 宇佐美 真一;
AUDIOLOGY JAPAN, 57(5), 463-464, 2014

携帯端末を活用したリハビリテーション機器の開発を目指して: 67S 語表を用いた語音弁別評価プログラム
河合 良介; 岩崎 聡; 西尾 信哉; 塚田 景大; 宇佐美 真一;
AUDIOLOGY JAPAN, 57(5), 379-380, 2014

次世代シーケンサーを用いて見出された TMPRSS3 遺伝子変異症例:―臨床像と残存聴力活用型人工内耳術後成績の検討―
宮川 麻衣子; 西尾 信哉; 塚田 景大; 茂木 英明; 宇佐美 真一;
AUDIOLOGY JAPAN, 57(5), 323-324, 2014

人工内耳装用児の聴性行動および認知・発達の伸びに関する検討
加藤 理子; 西尾 信哉; 宮川 麻衣子; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 57(5), 279-280, 2014

長野県難聴児支援センターの取り組み -入園・入学に関する支援について-
前田 麻貴; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 707-708, 30 Sep. 2013

先天性サイトメガロウイルス感染に対するマススクリーニングシステムの確立
矢野 卓也; 岩崎 聡; 西尾 信哉; 工 穣; 茂木 英明; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 703-704, 30 Sep. 2013

残存聴力活用型人工内耳(EAS : electric acoustic stimulation)の聴取能について:低音部残存聴力との相関
塚田 景大; 岩崎 聡; 茂木 英明; 工 穣; 西尾 信哉; 熊川 孝三; 内藤 泰; 高橋 晴雄; 東野 哲也; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 641-642, 30 Sep. 2013

GJB2遺伝子変異及び蝸牛奇形・蝸牛神経低形成を伴う難聴の人工内耳MCレベルに関する検討
鈴木 美華; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 615-616, 30 Sep. 2013

一側難聴によるハンディキャップ-多重ロジスティック回帰分析による評価-
岩崎 聡; 佐野 肇; 西尾 信哉; 工 穣; 岡本 牧人; 宇佐美 真一; 小川 郁;
AUDIOLOGY JAPAN, 56(5), 553-554, 30 Sep. 2013

純音聴力検査をもとにした難聴のパターン解析
鈴木 伸嘉; 西尾 信哉; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 527-528, 30 Sep. 2013

一側性難聴・人工内耳装用患者に関する音源定位検査の検討
鬼頭 良輔; 塚田 景大; 茂木 英明; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 441-442, 30 Sep. 2013

保険収載後の難聴遺伝子診断の現況
宮川 麻衣子; 西尾 信哉; 宇佐美 真一; 長野 誠; 山口 敏和;
AUDIOLOGY JAPAN, 56(5), 373-374, 30 Sep. 2013

Auditory neuropathy spectrum disorderに対する遺伝子診断の有用性および遺伝カウンセリング
岩佐 陽一郎; 吉村 豪兼; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 371-382, 30 Sep. 2013

Usher症候群タイプ1における遺伝子検査と耳鼻咽喉科医の役割
吉村 豪兼; 岩崎 聡; 西尾 信哉; 宇佐美 真一; 熊川 孝三; 東野 哲也; 佐藤 宏昭; 長井 今日子; 石川 浩太郎; 池園 哲郎; 内藤 泰; 福島 邦博; 中西 啓;
AUDIOLOGY JAPAN, 56(5), 369-370, 30 Sep. 2013

軽中等度難聴の遺伝形式・臨床像の検討
市瀬 彩; 西尾 信哉; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 349-350, 30 Sep. 2013

難聴遺伝子変異が確認された人工内耳装用児における神経反応テレメトリの検討
鈴木 美華; 岩崎 聡; 西尾 信哉; 鬼頭 良輔; 茂木 英明; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(3), 243-248, 30 Jun. 2013

難聴の遺伝子診断と次世代シークエンス解析 : 保険収載された遺伝子診断からターゲットリシークエンシングとエクソーム解析 (第1土曜特集 エクソーム解析 : 成果と将来) -- (生殖細胞系列変異)
西尾 信哉; 宇佐美 真一;
医学のあゆみ, 245(5), 393-400, 04 May 2013

An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis
Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 77(2), 298-302, Feb. 2013

Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS
Miyagawa, Maiko; Nishio, Shin-ya; Ikeda, Takuo; Fukushima, Kunihiro; Usami, Shin-ichi;
PLOS ONE, 8(10), 2013

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
Iwasa, Yoh-ichiro; Nishio, Shin-ya; Yoshimura, Hidekane; Kanda, Yukihiko; Kumakawa, Kozo; Abe, Satoko; Naito, Yasushi; Nagai, Kyoko; Usami, Shin-ichi;
BMC MEDICAL GENETICS, 14, 2013

Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients
Miyagawa, Maiko; Naito, Takehiko; Nishio, Shin-ya; Kamatani, Naoyuki; Usami, Shin-ichi;
PLOS ONE, 8(8), 2013

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
Naito, Takehiko; Nishio, Shin-ya; Iwasa, Yoh-ichiro; Yano, Takuya; Kumakawa, Kozo; Abe, Satoko; Ishikawa, Kotaro; Kojima, Hiromi; Namba, Atsushi; Oshikawa, Chie; Usami, Shin-ichi;
PLOS ONE, 8(5), 2013

Auditory neuropathy spectrum disorderに対する遺伝子診断の有用性および遺伝カウンセリング
岩佐 陽一郎; 吉村 豪兼; 宮川 麻衣子; 西尾 信哉; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 56(5), 371-372, 2013

一側性難聴児における先天性サイトメガロウイルス感染症の関与
岩崎 聡; 古館 佐起子; 西尾 信哉; 矢野 卓也; 茂木 英明; 工 穣; 宇佐美 真一;
Otology Japan, 23(5), 848-853, 2013

Usher 症候群の臨床的タイプ分類の問題点
岩崎 聡; 吉村 豪兼; 武市 紀人; 佐藤 宏昭; 石川 浩太郎; 加我 君孝; 熊川 孝三; 長井 今日子; 古屋 信彦; 池園 哲郎; 中西 啓; 内藤 泰; 福島 邦博; 東野 哲也; 君付 隆; 西尾 信哉; 工 穣; 宇佐美 真一;
日本耳鼻咽喉科學會會報, 115(10), 894-901, 20 Oct. 2012

難治性内耳疾患の遺伝子バンク構築-突発性難聴の候補遺伝子関連解析
鬼頭 良輔; 西尾 信哉; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(5), 611-612, 30 Sep. 2012

高音急墜型難聴の語音弁別能の検討
渡邊 舞; 西尾 信哉; 茂木 英明; 工 穣; 岩崎 聡; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(5), 595-596, 30 Sep. 2012

高度・重度感音難聴患者におけるOTOF遺伝子変異解析
岩佐 陽一郎; 西尾 信哉; 吉村 豪兼; 宇佐美 真一; 神田 幸彦; 阿部 聡子; 熊川 孝三; 内藤 泰;
AUDIOLOGY JAPAN, 55(5), 589-590, 30 Sep. 2012

当科における軽度・中等度難聴児の言語発達の検討
鈴木 美華; 茂木 英明; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(5), 473-474, 30 Sep. 2012

保険収載となった「先天性難聴の遺伝子診断」の現状について
工 穣; 岩佐 陽一郎; 吉村 豪兼; 矢野 卓也; 内藤 武彦; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(5), 459-460, 30 Sep. 2012

片側難聴と両側難聴のハンディーキャップについて-HHIA&VASによる評価
岩崎 聡; 佐野 肇; 西尾 信哉; 工 穣; 岡本 牧人; 宇佐美 真一; 小川 郁;
AUDIOLOGY JAPAN, 55(5), 385-386, 30 Sep. 2012

長野県における新生児聴覚スクリーニングの現況
前田 麻貴; 工 穣; 茂木 英明; 宮川 麻衣子; 西尾 信哉; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(5), 339-340, 30 Sep. 2012

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
Moteki, Hideaki; Nishio, Shin-ya; Hashimoto, Shigenari; Takumi, Yutaka; Iwasaki, Satoshi; Takeichi, Norihito; Fukuda, Satoshi; Usami, Shin-ichi;
JOURNAL OF HUMAN GENETICS, 57(9), 587-592, Sep. 2012

人工内耳と補聴器の装用開始年齢による言語発達検査結果の検討
山田 奈保子; 西尾 信哉; 岩崎 聡; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
AUDIOLOGY JAPAN, 55(3), 175-181, 30 Jun. 2012

難聴児における低出生時体重児の占める割合およびその言語発達に関する検討
西尾 信哉; 岩崎 聡; 宇佐美 真一; 笠井 紀夫; 福島 邦博;
AUDIOLOGY JAPAN, 55(2), 146-151, 28 Apr. 2012

Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
Usami, Shin-ichi; Miyagawa, Maiko; Nishio, Shin-Ya; Moteki, Hideaki; Takumi, Yutaka; Suzuki, Mika; Kitano, Yoko; Iwasaki, Satoshi;
ACTA OTO-LARYNGOLOGICA, 132(4), 377-384, Apr. 2012

Usher 症候群の全国アンケート調査結果の検討
吉村 豪兼; 岩崎 聡; 中西 啓; 西尾 信哉; 岩佐 陽一郎; 工 穣; 宇佐美 真一;
Otology Japan, 22(1), 40-46, 29 Feb. 2012

人工内耳装用時期と言語発達の検討 : 全国多施設調査研究結果
岩崎 聡; 西尾 信哉; 茂木 英明; 工 穣; 笠井 紀夫; 福島 邦博; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(1), 56-60, 28 Feb. 2012

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi;
PLOS ONE, 7(8), 2012

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study
Usami, Shin-ichi; Nishio, Shin-ya; Nagano, Makoto; Abe, Satoko; Yamaguchi, Toshikazu; Deafness Gene Study Consortium;
PLOS ONE, 7(2), 2012

人工内耳と補聴器の装用開始年齢による言語発達検査結果の検討
山田 奈保子; 西尾 信哉; 岩崎 聡; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
AUDIOLOGY JAPAN, 55(3), 175-181, 2012

難聴児における低出生時体重児の占める割合およびその言語発達に関する検討
西尾 信哉; 岩崎 聡; 宇佐美 真一; 笠井 紀夫; 福島 邦博;
AUDIOLOGY JAPAN, 55(2), 146-151, 2012

人工内耳装用時期と言語発達の検討—全国多施設調査研究結果—
岩崎 聡; 西尾 信哉; 茂木 英明; 工 穣; 笠井 紀夫; 福島 邦博; 宇佐美 真一;
AUDIOLOGY JAPAN, 55(1), 56-60, 2012

残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) の長期装用者3症例における術後成績
茂木 英明; 西尾 信哉; 宮川 麻衣子; 工 穣; 岩崎 聡; 宇佐美 真一;
AUDIOLOGY JAPAN, 54(6), 678-685, 28 Dec. 2011

残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) : 術後聴取能における検討
茂木 英明; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;
Otology Japan, 21(5), 771-776, 26 Dec. 2011

残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) : 手術法と聴力保存成績について
宇佐美 真一; 茂木 英明; 宮川 麻衣子; 内藤 武彦; 西尾 信哉; 工 穣; 岩崎 聡;
Otology Japan, 21(5), 763-770, 26 Dec. 2011

Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations
Moteki, Hideaki; Naito, Yasushi; Fujiwara, Keizo; Kitoh, Ryosuke; Nishio, Shin-ya; Oguchi, Kazuhiro; Takumi, Yutaka; Usami, Shin-ichi;
ACTA OTO-LARYNGOLOGICA, 131(11), 1232-1236, Nov. 2011

先進医療「先天性難聴の遺伝子診断」の現状
工 穣; 岩佐 陽一郎; 吉村 豪兼; 矢野 卓也; 内藤 武彦; 宮川 麻衣子; 茂木 英明; 西尾 信哉; 宇佐美 真一;
AUDIOLOGY JAPAN, 54(5), 595-596, 30 Sep. 2011

難聴児の言語発達に影響を及ぼす要因に関する研究 : 感覚器障害(聴覚)戦略研究・症例対象研究より
西尾 信哉; 岩崎 聡; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
AUDIOLOGY JAPAN, 54(5), 523-524, 30 Sep. 2011

残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) の長期装用者3症例における術後成績
茂木 英明; 宮川 麻衣子; 西尾 信哉; 工 穣; 岩崎 聡; 宇佐美 真一;
AUDIOLOGY JAPAN, 54(5), 391-392, 30 Sep. 2011

人工内耳装用児の神経反応テレメトリに関する検討
鈴木 美華; 西尾 信哉; 茂木 英明; 工 穣; 宇佐美 真一;
AUDIOLOGY JAPAN, 54(5), 389-390, 30 Sep. 2011

人工内耳手術年齢による言語発達検査の検討 : 感覚器障害戦略研究・症例対象研究結果から
山田 奈保子; 西尾 信哉; 岩崎 聡; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
AUDIOLOGY JAPAN, 54(5), 381-382, 30 Sep. 2011

補聴手段(人工内耳装用の有無)による言語発達の相違について
川端 右子; 西尾 信哉; 岩崎 聡; 茂木 英明; 工 穣; 宇佐美 真一; 福島 邦博; 笠井 紀夫;
AUDIOLOGY JAPAN, 54(5), 379-380, 30 Sep. 2011

Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord
Furutate, Sakiko; Iwasaki, Satoshi; Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;
ACTA OTO-LARYNGOLOGICA, 131(9), 976-982, Sep. 2011

Achievement of hearing preservation in the presence of an electrode covering the residual hearing region
Usami, Shin-Ichi; Moteki, Hideaki; Suzuki, Nobuyoshi; Fukuoka, Hisakuni; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Jolly, Claude;
ACTA OTO-LARYNGOLOGICA, 131(4), 405-412, Apr. 2011

残存聴力活用型人工内耳　（ＥＡＳ：　ｅｌｅｃｔｒｉｃ　ａｃｏｕｓｔｉｃ　ｓｔｉｍｕｌａｔｉｏｎ）　の長期装用者３症例における術後成績
茂木 英明; 西尾 信哉; 宮川 麻衣子; 工 穣; 岩崎 聡; 宇佐美 真一;
AUDIOLOGY JAPAN, 54(6), 678-685, 2011

無症候性先天性サイトメガロウイルス難聴児の脳機能評価
鈴木 美華; 茂木 英明; 鬼頭 良輔; 西尾 信哉; 工 穣; 宇佐美 真一; 岩崎 聡; 藤原 敬三; 内藤 泰; 北野 庸子;
AUDIOLOGY JAPAN, 53(5), 651-652, 15 Oct. 2010

補聴手段(人工内耳/補聴器)による言語発達検査と背景の検討 : 感覚器障害戦略研究・症例対照研究結果から : 第1報
岩崎 聡; 西尾 信哉; 川端 右子; 鈴木 宏明; 茂木 英明; 工 穣; 宇佐美 真一; 笠井 紀夫; 福島 邦博;
AUDIOLOGY JAPAN, 53(5), 573-574, 15 Oct. 2010

残存聴力活用型人工内耳 (EAS : electric acoustic stimulation) を使用した一症例 : 人工内耳手術における残存聴力保存の試み
宇佐美 真一; 工 穣; 鈴木 伸嘉; 茂木 英明; 宮川 麻衣子; 西尾 信哉;
Otology Japan, 20(3), 151-155, 25 Jul. 2010

Replication initiator protein mRNA of ColE2 plasmid and its antisense regulator RNA are under the control of different degradation pathways (vol 59, pg 102, 2008)
Nishio, Shin-ya; Itoh, Tateo;
PLASMID, 62(3), 206-206, Nov. 2009

Arginine-rich RNA binding domain and protein scaffold domain of RNase E are important for degradation of RNAI but not for that of the Rep mRNA of the ColE2 plasmid
Nishio, Shin-ya; Itoh, Tateo;
PLASMID, 62(2), 83-87, Sep. 2009

The effects of RNA degradation enzymes on antisense RNAI controlling ColE2 plasmid copy number
Nishio, Shin-ya; Itoh, Tateo;
PLASMID, 60(3), 174-180, Nov. 2008

難聴の遺伝子検査と遺伝カウンセリングの全国共同研究 : 変異の検出頻度と患者アンケート調査について
宇佐美 真一; 工 穣; 茂木 英明; 鬼頭 良輔; 菊池 景子; 西尾 信哉;
AUDIOLOGY JAPAN, 51(5), 565-566, 05 Sep. 2008

Importance of the leader region of mRNA for translation initiation of ColE2 Rep protein
Nagase, Tomomi; Nishio, Shin-Ya; Itoh, Tateo;
PLASMID, 58(3), 249-260, Nov. 2007

ColE2プラスミド複製開始部位の構造と機能の解析
黒住 英樹; 汪 富成; 伊藤 淳一; 谷垣 岳人; 西尾 信哉; 矢倉 勝; 伊藤 建夫;
日本分子生物学会年会プログラム・講演要旨集, 21, 01 Dec. 1998

ColE2プラスミド複製開始タンパクの翻訳調節機構
西尾 信哉; 伊藤 建夫;
日本分子生物学会年会プログラム・講演要旨集, 21, 01 Dec. 1998