所属学会 日本耳鼻咽喉科学会 日本耳科学会 日本鼻科学会 日本めまい平衡医学会 日本聴覚医学会 日本神経科学学会 """Society for Neuroscience, The American Society of Human Genetics, Association for Research in Otolaryngology,Barany Society"""
Estimated number and prevalence of patients with delayed endolymphatic hydrops in Japan: a nationwide survey. Acta Otolaryngol.,142(9_12):675-678 2022 Author:Ito S, Takakura H, Akaogi K, Shojaku H, Kitahara T, Nishio SY, Usami SI. Intractable Hearing Disorder Consortium.
Minimally Traumatic Cochlear Implant Surgery: Expert Opinion in 2010 and 2020. J Pers Med.,120(10):1551 2022 Author:Topsakal V, Agrawal S, Atlas M, Baumgartner WD, Brown K, Bruce IA, Dazert S, Hagen R, Lassaletta L, Mlynski R, Raine CH, Rajan GP, Schmutzhard J, Sprinzl GM, Staecker H, Usami SI, Van Rompaey V, Zernotti M, Heyning PV.
Systematic Literature Review of Hearing Preservation Rates in Cochlear Implantation Associated With Medium- and Longer-Length Flexible Lateral Wall Electrode Arrays. Front Surg.,9:893839 2022 Author:Van de Heyning PH, Dazert S, Gavilan J, Lassaletta L, Lorens A, Rajan GP, Skarzynski H, Skarzynski PH, Tavora-Vieira D, Topsakal V, Usami SI, Van Rompaey V, Weiss NM, Polak M.
A 14-year nationwide epidemiological analysis of delayed endolymphatic hydrops in Japan. Acta Otolaryngol.,142(7_8):568-574 2022 Author:Ito S, Takakura H, Akaogi K, Shojaku H, Takeda N, Suzuki M, Watanabe Y, Aoki M, Doi K, Ikezono T, Kakigi A, Kitahara T, Koizuka I, Murofushi T, Naganuma H, Omori K, Takahashi K, Takumida M, Usami SI. Yamashita H.
Etiology of hearing loss affects auditory skill development and vocabulary development in pediatric cochlear implantation cases. Acta Otolaryngol.,142(3_4):308-315 2022 Author:Nishio SY, Moteki H, Miyagawa M, Yamasoba T, Kashio A, Iwasaki S, Takahashi M, Naito Y, Fujiwara K, Sugaya A, Takahashi H,Kitaoka K,Usami SI.
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores. Hum Genet.,141(3_4):363-382 2022 Author:Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Hum Genet.,141(3_4):865-875 2022 Author:Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, SuematsuM, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, kumakawa K, Yoshida T, Esaki T, Usami SI.
The genetic etiology of hearing loss in Japan revealed by the social health insurance‑based genetic testing of 10K patients. Hum Genet.,141(3_4):665-681 2022 Author:Usami SI, Nishio SY.
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss. Hum Genet.,141(3_4):929-937 2022 Author:Nishio SY, Usami SI.
Speech perception in noise in patients with idiopathic sudden hearing loss. Acta Otolaryngol.,142(3_4):302-307 2022 Author:Kitoh R, Nishio SY, Usami SI.
Genetic background in late-onset sensorineural hearing loss patients J Hum Genet.,67(4):223-230 2022 Author:Uehara N, Fujita T, Yamashita D, Yokoi J, Katsunuma S, Kakigi A, Nishio SY, Nibu KI, Usami SI.
Suitable Electrode Choice for Robotic-Assisted Cochlear Implant Surgery: A Systematic Literature Review of Manual Electrode Insertion Adverse Events. Front Surg.,9:823219 2022 Author:Van de Heyning P, Roland P, Lassaletta L, Agrawal S, Atlas M, Baumgartner WD, Brown K, Caversaccio M, Dazert S, Gstöttner W, Hagen R, Hagr A, Jablonski G.E., Kameswaran M, Kuzovkov V, Leinung M, Yongxin Li, Loth A, Magel A, Mlynski R, Mueller J, Parnes L, Radeloff A, Raine C, Rajan G, Schmutzhard J, Skarzynski H, Skarzynski PH, Sprinzl G, Staecker H, Stover T, Tavora-Viera D, Topsakal V, Usami SI, Van Rompaey V, Weiss N.M., Wimmer W, Zernotti M, Gavilan J.
Effects of salicylate derivatives on localization of p.H723R allele product of SLC26A4 . Auris Nasus Larynx,49(6):928-937 2022 Author:Murakoshi M, Koike Y, Koyama S, Usami SI, Kaimiya K, Ikeda K, Haga Y, Tsumoto K, Nakamura H, Hirasawa N, Ishihara K, Wada H.
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up. Auris Nasus Larynx,49:308-312 2022 Author:Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio SY, Usami SI, Yamasoba T.
Variants in CDH23 cause a broad spectrum of hearing loss:from non‑syndromic to syndromic hearing loss as well as from congenital to age‑related hearing loss. Hum Genet.,41(3_4):903-914 2022 Author:Usami SI, Isaka Y, Miyagawa M, Nishio SY.
Frequency of the STRC ‑CATSPER2 deletion in STRC ‑associated hearing loss patients. Sci Rep.,12(1):634 2022 Author:Nishio SY, Usami SI.
Identification of source populations for reintroduction in extinct populations based on genome‑wide SNPs and mtDNA sequence:a case study of the endangered subalpine grassland butterfly Aporia hippia (Lepidoptera; Pieridae) in Japan. Journal of Insect Conservation,26:121-130 2022 Author:Nakahama N, Hanaoka T, Itoh T, Kishimoto T, Ohwaki A, Matsuo A, Kitahara M, Usami SI, Suyama Y, Suka T.
Frequency and natural course of congenital cytomegalovirus-associated hearing loss in children. Acta Otolaryngol.,141(12):1038-1043 2021 Author:Kasuga M, Yoshimura H, Shinagawa J, Nishio SY, Takumi Y, Usami SI.
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants. Genes(Basel).,12(10):1623 2021 Author:Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium.
Vestibular nerve deficiency and vestibular function in children with unilateral hearing loss caused by cochlear nerve deficiency. Acta Otolaryngol.,141(9):835-840 2021 Author:Tsukada K, Usami SI.
Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up. Auris Nasus Larynx,47:905-908 2021 Author:Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio SY, Usami SI, Yamasoba T.
A nationwide epidemiologic, clinical, genetic study of Usher syndrome in Japan. Acta Otolaryngol.,141(9):841-846 2021 Author:Yoshimura H, Nishio SY, Isaka Y, Kurokawa T, Usami SI, Interactable Hearing Disorder Consortium.
Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia-atresia. Clin Case Rep.,9(8):e04408 2021 Author:Yoshimura H, Takahashi M, Iwasaki S, Shinagawa J, Takashimizu I, Nagai F, Yotsuyanagi T, Usami SI.
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores. Hum Genet.,141((3-4)):363-382 2021 Author:Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB.
A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. BMC Neurol.,21(1):243 2021 Author:Matsuda N, Ootsuki K, Kobayashi S, Nemoto A, Kubo H, Usami SI, Kanai K.
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-Syndromic Hearing Loss. Otol Neurotol.,42(7):e866-e874 2021 Author:Ishino T, Ogawa Y, Sonoyama T, Taruya T, Kono T, Hamamoto T, Ueda T, Ishino T, Ogawa Y, Sonoyama T, Taruya T, Kono T, Hamamoto T, Ueda T, Takeno S, Moteki H, Nishio SY, Usami SI, Nagano Y, Yoshimura A, Yoshikawa K, Kato M, Ichimoto M, Watanabe
Phylogeny and biogeography of arctic-alpine butterflies of the genus Oeneis (Nymphalidae: Satyrinae) Entomological Science,:1-13 2021 Author:Usami SI, Isaka Y, Nisho SY, Nakatani T, Itoh T.
Cochlear implantation in a patient with a POU4F3 mutation. Clin Case Rep.,9(1):298-303 2021 Author:Miyake K, Shirai K, Nishiyama N, Kawaguchi S, Ohta Y, Kawano A, Usami SI, Kitano T, Tsukahara K.
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 Genet Test Mol Biomarkers,25(1):79-83 2021 Author:Isaka Y, Nishio SY, Hishinuma E, Hiratsuka M, Usami SI.
Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital? ORL J Otorhinolaryngol Relat Spec,83(3):196-202 2021 Author:Nakashima T, Ganaha A, Tsumagari S, Nakamura T, Yamada Y, Nakamura E, Usami SI, Tono T.
Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable) Acta Otolaryngol,141(3):267-272 2021 Author:Nishio SY, Tono T, Iwaki T, Moteki H, Suzuki K, Tsushima Y, Kashio A, Akamatsu Y, Sato H, Yaegashi K, Takeda H, Kumagai F, Nakashima T, Matsuda Y, Hato N, Dairoku T, Shiroma M, Kawai R, Usami SI.
Two-phase survey on the frequency of use and safety of MRI for hearing implant recipients Eur Arch Otorhinolaryngol 2021 Author:van de Heyning P, Mertens G, Topsakal V, de Brito R, Wimmer W, Caversaccio MD, Dazert S, Volkenstein S, Zernotti M, Parnes LS, Staecker H, Bruce IA, Rajan G, Atlas M, Friedland P, Skarzynski PH, Sugarova S, Kuzovkov V, Hagr A, Mlynski R, Schmutzhard J, Usami SI, Lassaletta L, Gavilán J, Godey B, Raine CH, Hagen R, Sprinzl GM, Brown K, Baumgartner WD, Karltorp E.
Vestibular Preservation After Cochlear Implantation Using the Round Window Approach Front Neurol,12:656592 2021 Author:Tsukada K, Usami SI.
Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort Acta Otolaryngol,140(1):32-39 2020 Author:Kitoh R, Nishio SY, Usami SI.
Prevalence and clinical features of hearing loss caused by EYA4 variants Sci Rep,10(1):3662 2020 Author:Shinagawa J, Moteki H, Nishio SY, Ohyama K, Otsuki K, Iwasaki S, Masuda S, Oshikawa C, Ohta Y, Arai Y, Takahashi M, Sakuma N, Abe S, Sakurai Y, Sakaguchi H, Ishino T, Uehara N, Usami SI.
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot? Genes (Basel),11(3):250 2020 Author:Shinagawa J, Moteki H, Nishio SY, Noguchi Y, Usami SI.
Cochlear Implantation From the Perspective of Genetic Background Anat Rec (Hoboken),303(3):563-593 2020 Author:Usami SI, Nishio SY, Moteki H, Miyagawa M, Yoshimura H.
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss Genes (Basel),11(3):273 2020 Author:Oka SI, Day TF, Nishio SY, Moteki H, Miyagawa M, Morita S, Izumi S, Ikezono T, Abe S, Nakayama J, Hyogo M, Okamoto N, Uehara N, Oshikawa C, Kitajiri SI, Usami SI.
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome Nat Commun,11(1):1343 2020 Author:Li M, Nishio SY, Naruse C, Riddell M, Sapski S, Katsuno T, Hikita T, Mizapourshafiyi F, Smith FM, Cooper LT, Lee MG, Asano M, Boettger T, Krueger M, Wietelmann A, Graumann J, Day BW, Boyd AW, Offermanns S, Kitajiri SI, Usami SI, Nakayama M.
The availability of an adhesive bone conduction hearing device: a preliminary report of a single-center experience Acta Otolaryngol,140(4):319-326 2020 Author:Moteki H, Kitoh R, Usami SI.
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss Sci Rep,10(1):7056 2020 Author:Miyajima H, Moteki H, Day T, Nishio SY, Murata T, Ikezono T, Takeda H, Abe S, Iwasaki S, Takahashi M, Naito Y, Yamazaki H, Kanda Y, Kitajiri SI, Usami SI.
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4 Medicine (Baltimore),99(19):e19763 2020 Author:Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K.
Genetic testing has the potential to impact hearing preservation following cochlear implantation Acta Otolaryngol,140(6):438-444 2020 Author:Yoshimura H, Moteki H, Nishio SY, Miyajima H, Miyagawa M, Usami SI.
The reliability of hearing implants: report on the type and incidence of cochlear implant failures Cochlear Implants Int,21(4):228-237 2020 Author:Van de Heyning P, Atlas M, Baumgartner WD, Caversaccio M, Gavilan J, Godey B, Gstöttner W, Hagen R, Yongxin L, Karltorp E, Kameswaran M, Kuzovkov V, Lassaletta L, Manoj M, Parnes L, Pillsbury H, Raine C, Rajan G, Schmutzhard J, Skarzynski H, Staecker H, Usami SI, Zernotti M.
Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing Acta Otolaryngol,140(8):632-638 2020 Author:Yoshimura H, Moteki H, Nishio SY, Usami SI.
Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan Hum Genome Var,7:27 2020 Author:Maeda Y, Sasaki A, Kasai S, Goto S, Nishio SY, Sawada K, Tokuda I, Itoh K, Usami SI, Matsubara A.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations Hum Genet,139(10):1315-1323 2020 Author:Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL.
Correction to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan Hum Genome Var,7:36 2020 Author:Maeda Y, Sasaki A, Kasai S, Goto S, Nishio SY, Sawada K, Tokuda I, Itoh K, Usami SI, Matsubara A.
The use of a MITO-Porter to deliver exogenous therapeutic RNA to a mitochondrial disease's cell with a A1555G mutation in the mitochondrial 12S rRNA gene results in an increase in mitochondrial respiratory activity Mitochondrion,55:134-144 2020 Author:Yamada Y, Maruyama M, Kita T, Usami SI, Kitajiri SI, Harashima H.
Congenital Membranous Stapes Footplate Producing Episodic Pressure-Induced Perilymphatic Fistula Symptoms Front Neurol,11:585747 2020 Author:Matsuda H, Tanzawa Y, Sekine T, Matsumura T, Saito S, Shindo S, Usami SI, Kase Y, Itoh A, Ikezono T.
Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations Auris Nasus Larynx,47(6):958-964 2020 Author:Tsukada K, Usami SI.
Cochlear implantation in a patient with a POU4F3 mutation Clin Case Rep,9(1):298-303 2020 Author:Miyake K, Shirai K, Nishiyama N, Kawaguchi S, Ohta Y, Kawano A, Usami SI, Kitano T, Tsukahara K.
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. Genes.,10:735 2019 Author: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.
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss. Genes.,10:744 2019 Author:Yasukawa R, Moteki H, Nishio SY, Ishikawa K, Abe S, Honkura Y, Hyogo M, Mihashi R, Ikezono T, Shintani T, Ogasawara N, Shirai K, Yoshihashi H, Ishino T, Otsuki K, ItoT, Sugahara K, Usami SI.
Investigation of Recurrent Cases of Head and Neck Cancer after Initial Treatment. Int J Pract Otolaryngol,2:e11-e17 2019 Author:Kitoh R, Mori K, Usami SI.
Targeted Allele Suppression Prevents Progressive Hearing Loss in the Mature Murine Model of Human TMC1 Deafness. Mol Ther.,27(3):681-690 2019 Author:Yoshimura H, Shibata SB, Ranum PT, Moteki H, Smith RJH.
A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening. Acta Otolaryngol,138(8):708-712 2019 Author:Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss. Clin Case Rep,6(11):2111-2116 2019 Author:Abe S, Nishio SY, Yokota Y, Moteki H, Kumakawa K, Usami SI.
Frequency and clinical features of hearing loss caused by STRC deletions. Sci Rep,9(1):4408 2019 Author: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.
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PLoS One,14(5):e0215932 2019 Author: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.
Comprehensive analysis of syndromic hearing loss patients in Japan. Sci Rep,9(1):11976 2019 Author: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, et al.
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant. Int J Mol Sci,20(18):E4579 2019 Author:Kitano T, Kitajiri SI, Nishio SY, Usami SI.
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss. Genes (Basel),10(9):E715 2019 Author: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.
Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss. Cin Case Rep.,6:2111-2116 2018 Author:Abe S, Nishio SY,Yokota Y, Moteki H, Kumakawa K, Usami SI.
Molecular Phylogeny of the Genus Erebia(Lepidoptera,Nymphalidae,Satyrinae) : Species Groups Inferred from Mitochondrial and Nucleus Gene Sequences. Butterfly Science,12:27-48 2018 Author:Nakatani T, Ueda S, Nishio SY, Usami SI.
Introgressive Hybridization of the Erebia ligea Complex(Lepidoptera, Nymphalidae) in the Far Eastern Region. Butterfly Science,11:26-37 2018 Author:Nakatani T, Ueda S, Nishio SI, Usami SI.
A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening. Acta otolaryngol.,138(8):708-712 2018 Author:Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
Hearing preservation cochlear implantation in children: The HEARRING Group consensus and practice guide. Cochlear Implants Int,19(1):1-13 2018 Author:Rajan G, Tavora-Vieira D, Baumgartner WD, Godey B, Müller J, O'Driscoll M, Skarzynski H, Skarzynski P, Usami SI, Adunka O, Agrawal S, Bruce I, De Bodt M, Caversaccio M, Pilsbury H, Gavilán J, Hagen R, Hagr A, Kameswaran M, Karltorp E, Kompis M, Kuzovkov V, et al.
Cochlear volume as a predictive factor for residual-hearing preservation after conventional cochlear implantation. Acta Otolaryngol,138(4):345-350 2018 Author:Takahashi M, Arai Y, Sakuma N, Yabuki K, Sano D, Nishimura G, Oridate N, Usami SI.
The diagnostic performance of a novel ELISA for human CTP (Cochlin-tomoprotein) to detect perilymph leakage. PLoS One,13(1):e0191498 2018 Author:Ikezono T, Matsumura T, Matsuda H, Shikaze S, Saitoh S, Shindo S, Hasegawa S, Oh SH, Hagiwara Y, Ogawa Y, Ogawa H, Sato H, Tono T, Araki R, Maeda Y, Usami SI, Kase Y.
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. PLoS One,13(3):e0193359 2018 Author:Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI.
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel. Mol Genet Genomic Med 2018 Author:Nishio SY, Moteki H, Usami SI.
Pneumolabyrinth, intracochlear and vestibular fluid loss after cochlear implantation. Auris Nasus Larynx,45(5):1116-1120 2018 Author:Moteki H, Fujinaga Y, Goto T, Usami SI.
Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation. Hum Genome Var,5:23 2018 Author:Abe S, Takeda H, Nishio SY, Usami SI.
Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI. PLoS One,13(12):e0206891 2018 Author:Iwasa YI, Tsukada K, Kobayashi M, Kitano T, Mori K, Yoshimura H, Fukuoka H, Usami SI.
Feasibility of hearing preservation for residual hearing with longer cochlear implant electrodes. Acta Otolaryngol,138(12):1080-1085 2018 Author:Moteki H, Nishio SY, Miyagawa M, Tsukada K, Noguchi Y, Usami SI.
Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar karatoderma. Acta Otolaryngol.,2(1):137-140 2017 Author:Arai Y, Takahashi M, Sakuma N, Nishio S, Oridate N, Usami SI.
Round Window Application of an Active Middle Ear Implant: A Comparison With Hearing Aid Usage in Japan. Otol Neurotol. ,38(6):e145-e151 2017 Author:Iwasaki S, Usami SI, Takahashi H, Kanda Y, Tono T, Doi K, Kumakawa K, Gyo K, Naito Y, Kanzaki S, Yamanaka N, Kaga K.
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. PLoS ONE,12(5):e0177636 2017 Author: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.
Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan. Acta Otolaryngol.,137:s38-s59 2017 Author: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, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI.
Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review. Acta Otolaryngol.,137:730-742 2017 Author:Nishio SY, Usami SI
Epidemiological survey of acute low-tone sensorineural hearing loss. Acta Otolaryngol.,137:s34-s37 2017 Author: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, Takahashi H, Tono T, Yamashita H, Yamasoba T, Usami SI.
A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases. Acta Otolaryngol.,137:s53-s59 2017 Author: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,
Acute sensorineural hearing loss. Acta Otolaryngol.,137:s1 2017 Author:Usami SI
Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients. Acta Otolaryngol.,137:s17-s23 2017 Author: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, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI.
Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss. Acta Otolaryngol.,137:s24-S29 2017 Author:Kitoh R, Nishio SY, Usami SI.
Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis. Acta Otolaryngol.,137:s48-s52 2017 Author:Wada T, Sano H2, 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.
Nationwide epidemiological survey of idiop.athic sudden sensorineural hearing loss in Japan. Acta Otolaryngol.,137:s8-s16 2017 Author:Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Sone M, Fukuda S, Hara A6, 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, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI.
Etiology of single-sided deafness and asymmetrical hearing loss. Acta Otolaryngol.,137:s2-s7 2017 Author:Usami SI, Kitoh R, Moteki H, Nishio SY, Kitano T, Kobayashi M, Shinagawa J, Yokota Y, Sugiyama K, Watanabe K.
The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol.,137:s30-s33 2017 Author: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, Sato H, Suzuki M, Shojaku H, Takahashi H, Takeda H, Tono T, Yamashita H, Yamasoba T, Usami SI.
A nationwide study on enlargement of the vestibular aqueduct in Japan. Auris Nasus Larynx.,44(1):33-39 2017 Author:Noguchi Y, Fukuda S, Fukushima K, Gyo K, Hara A, Nakashima T, Ogawa K, Okamoto M, SatoH, Usami SI, Yamasoba T, Yokoyama T, Kitamura K.
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. Hear Res.,348:87-97 2017 Author:Nishio SY, Takumi Y, Usami SI
The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan. Acta Otolaryngol.,137:s44-s47 2017 Author: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, Yamashita H, Yamasoba T, Usami SI.
Towards a Unified Testing Framework for Single-Sided Deafness Studies: A Consensus Paper. Audiol Neurootol. ,21(6):391-398 2017 Author:Van de Heyning P1, Távora-Vieira D, Mertens G, Van Rompaey V, Rajan GP, Müller J, Hempel JM, Leander D, Polterauer D, Marx M, Usami SI, Kitoh R, Miyagawa M, Moteki H, Smilsky K, Baumgartner WD, Keintzel TG, Sprinzl GM, Wolf-Magele A, Arndt S, Wesarg T, Zirn S, Baumann U, Weissgerber T, Rader T, Hagen R, Kurz A, Rak K, Stokroos R, George E, Polo R, Medina M, Henkin Y, Hilly O, Ulanovski D, Rajeswaran R, Kameswaran M, Di Gregorio MF, Zernotti ME.
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification. Hum Mutat.,38(3):252-259 2017 Author:Nishio SY, Usami SI.
Congenital hearing loss. Nat Rev Dis Primers. ,3:16094 2017 Author:Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN.
Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing. Acta Otolaryngol,137(5):516-521 2017 Author:Moteki H, Nishio S, Miyagawa M, Tsukada K, Iwasaki S, Usami S.
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. PLoS One,11(12):e0166781 2016 Author:Iwasa Y, Nishio S, Usami S.
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. EMBO Molecular Medicine,8(11):1310-1324 2016 Author:Ueyama T, Ninoyu Y, Nishio S, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami S, Saito N, Kitajiri S.
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients. PLoS ONE,11(9):e0162230 2016 Author:Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol,125(918-923) 2016 Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio S, Wakui K, Yamaguchi T, Kolbe DL, Iwasa Y, Shearer AE, Fukushima Y, Smith RJ, Usami S.
Discrimination of Japanese monosyllables in patients with high-frequency hearing loss. Auris Nasus Larynx,43(269-280) 2016 Author:Karino S, Usami S, Kumakawa K, Takahashi H, Tono T, Naito Y, Doi K, Ito K, Suzuki M, Sakata H, Takumi Y, Iwasaki S, Kakigi A, Yamasoba T.
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. Clin Genet,89:466-472 2016 Author:Moteki H, Azaiez H, Booth K.T, Shearer A.E, Sloan C.M, Kolbe D.L, Nishio S, Hattori M, Usami S, Smith R.J.H.
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. J Hum Genet,61(3):253-261 2016 Author:Sakuma N, Moteki H, Takahashi M, Nishio S, Arai Y, Yamashita Y, Oridate N, Usami S.
A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology. Otol Neurotol,37(2):e126-e134 2016 Author:Miyagawa M, Nishio S, Usami S.
SOD1 gene polymorphisms in sudden sensorineural hearing loss. Acta Otolaryngol,136:465-469 2016 Author:Kitoh R, Nishio S, Ogawa K, Okamura M Kitamura K, Gyo K, Sato H, Nakashima T, Fukuda S, Fukushima K, Hara A, Yamasoba T, Usami S.
The effects of cochlear implantation in Japanese single-sided deafness patients: five case reports. Acta Otolaryngol,136(460-464) 2016 Author:Kitoh R, Moteki H, Nishio S, Shinden S, Kanzaki S, Iwasaki S, Ogawa K, Usami S.
Correlation between White Matter Lesions and Intelligence Quptient in patients with Congenital Cytomegalovirus Infection. Pediatr Neurol,55:52-57 2016 Author:Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio S, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet,61:419-422 2016 Author:Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S.
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population JOURNAL OF HUMAN GENETICS,60(10):613-617 2015(Oct.) Author:Taniguchi, Mirei; Matsuo, Hirotaka; Shimizu, Seiko; Nakayama, Akiyoshi; Suzuki, Koji; Hamajima, Nobuyuki; Shinomiya, Nariyoshi; Nishio, Shinya; Kosugi, Shinji; Usami, Shin-ichi; Ito, Juichi; Kitajiri, Shin-ichiro;
Silicone impression material foreign body in the middle ear: Two case reports and literature review AURIS NASUS LARYNX,42(5):419-423 2015(Oct.) Author:Suzuki, Nobuyoshi; Okamura, Koji; Yano, Takuya; Moteki, Hideaki; Kitoh, Ryosuke; Takumi, Yutaka; Usami, Shin-ichi;
Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:177S-183S 2015(May) Author:Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Hattori, Mitsuru; Sato, Ai; Sato, Yoshihiko; Motobayashi, Mitsuo; Sloan, Christina M.; Kolbe, Diana L.; Shearer, A. Eliot; Smith, Richard J. H.; Usami, Shin-ichi;
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:61S-76S 2015(May) Author:Tsukada, Keita; Nishio, Shin-ya; Hattori, Mitsuru; Usami, Shin-ichi;
Mutational Spectrum and Clinical Features of Patients With ACTG1 Mutations Identified by Massively Parallel DNA Sequencing ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:84S-93S 2015(May) Author:Miyagawa, Maiko; Nishio, Shin-ya; Ichinose, Aya; Iwasaki, Satoshi; Murata, Takaaki; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:49S-60S 2015(May) Author:Nishio, Shin-ya; Usami, Shin-ichi;
Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:77S-83S 2015(May) Author:Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-ya; Usami, Shin-ichi;
Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:94S-99S 2015(May) Author:Yoshimura, Hidekane; Oshikawa, Chie; Nakayama, Jun; Moteki, Hideaki; Usami, Shin-ichi;
De Novo Mutation in X-Linked Hearing Loss-Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:169S-176S 2015(May) Author:Moteki, Hideaki; Shearer, A. Eliot; Izumi, Shuji; Kubota, Yamato; Azaiez, Hela; Booth, Kevin T.; Sloan, Christina M.; Kolbe, Diana L.; Smith, Richard J. H.; Usami, Shin-ichi;
Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:6S-48S 2015(May) Author: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;
The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:193S-204S 2015(May) Author:Miyagawa, Maiko; Nishio, Shin-ya; Sakurai, Yuika; Hattori, Mitsuru; Tsukada, Keita; Moteki, Hideaki; Kojima, Hiromi; Usami, Shin-ichi;
Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:100S-110S 2015(May) Author:Tsukada, Keita; Ichinose, Aya; Miyagawa, Maiko; Mori, Kentaro; Hattori, Mitsuru; Nishio, Shin-ya; Naito, Yasushi; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:111S-117S 2015(May) Author:Iwasa, Yoh-ichiro; Moteki, Hideaki; Hattori, Mitsuru; Sato, Ririko; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;
Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:142S-147S 2015(May) Author:Ichinose, Aya; Moteki, Hideaki; Hattori, Mitsuru; Nishio, Shin-ya; Usami, Shin-ichi;
Germinal Mosaicism in a Family With BO Syndrome ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:118S-122S 2015(May) Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Takumi, Yutaka; Usami, Shin-ichi;
USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:123S-128S 2015(May) Author:Moteki, Hideaki; Yoshimura, Hidekane; Azaiez, Hela; Booth, Kevin T.; Shearer, A. Eliot; Sloan, Christina M.; Kolbe, Diana L.; Murata, Toshinori; Smith, Richard J. H.; Usami, Shin-ichi;
Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:148S-157S 2015(May) Author:Miyagawa, Maiko; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;
Mutations in LOXHDI Gene Cause Various Types and Severities of Hearing Loss ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:135S-141S 2015(May) Author:Mori, Kentaro; Moteki, Hideaki; Kobayashi, Yumiko; Azaiez, Hela; Booth, Kevin T.; Nishio, Shin-ya; Sato, Hiroaki; Smith, Richard J. H.; Usami, Shin-ichi;
Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:184S-192S 2015(May) Author: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;
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:158S-168S 2015(May) Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi;
Novel Mutations in GRXCRI at DFNB25 Lead to Progressive Hearing Loss and Dizziness ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:129S-134S 2015(May) Author:Mori, Kentaro; Miyanohara, Ikuyo; Moteki, Hideaki; Nishio, Shin-ya; Kurono, Yuichi; Usami, Shin-ichi;
Molecular Diagnosis of Deafness-A Preface ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:5S-5S 2015(May) Author:Usami, Shin-ichi;
The advantages of sound localization and speech perception of bilateral electric acoustic stimulation ACTA OTO-LARYNGOLOGICA,135(2):147-153 2015(Feb.) Author:Moteki, Hideaki; Kitoh, Ryosuke; Tsukada, Keita; Iwasaki, Satoshi; Nishio, Shin-Ya; Usami, Shin-Ichi;
Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations AUDIOLOGY AND NEURO-OTOLOGY,20(3):147-152 2015 Author:Tsukada, Keita; Fukuoka, Hisakuni; Usami, Shin-ichi;
Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes GENETIC TESTING AND MOLECULAR BIOMARKERS,19(4):209-217 2015 Author:Nishio, Shin-Ya; Hayashi, Yoshiharu; Watanabe, Manabu; Usami, Shin-Ichi;
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations ACTA OTO-LARYNGOLOGICA,134(6):557-563 2014(Jun.) Author:Ishikawa, Kotaro; Naito, Takehiko; Nishio, Shin-Ya; Iwasa, Yoh-Ichiro; Nakamura, Ken-Ichi; Usami, Shin-Ichi; Ichimura, Keiichi;
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study JOURNAL OF HUMAN GENETICS,59(5):262-268 2014(May) Author:Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;
Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening JOURNAL OF HUMAN GENETICS,59(2):100-106 2014(Feb.) Author:Yano, Takuya; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;
Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,78(2):285-289 2014(Feb.) Author:Moteki, Hideaki; Suzuki, Mika; Naito, Yasushi; Fujiwara, Keizo; Oguchi, Kazuhiro; Nishio, Shin-ya; Iwasaki, Satoshi; Usami, Shin-ichi;
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants AMERICAN JOURNAL OF HUMAN GENETICS,95(4):445-453 2014 Author:Shearer, A. Eliot; Eppsteiner, Robert W.; Booth, Kevin T.; Ephraim, Sean S.; Gurrola, Jose, II; Simpson, Allen; Black-Ziegelbein, E. Ann; Joshi, Swati; Ravi, Harini; Giuffre, Angelica C.; Happe, Scott; Hildebrand, Michael S.; Azaiez, Hela; Bayazit, Yildirim A.; Erdal, Mehmet Emin; Lopez-Escamez, Jose A.; Gazquez, Irene; Tamayo, Marta L.; Gelvez, Nancy Y.; Leal, Greizy Lopez; Jalas, Chaim; Ekstein, Josef; Yang, Tao; Usami, Shin-ichi; Kahrizi, Kimia; Bazazzadegan, Niloofar; Najmabadi, Hossein; Scheetz, Todd E.; Braun, Terry A.; Casavant, Thomas L.; LeProust, Emily M.; Smith, Richard J. H.;
Gene Expression Pattern after Insertion of Dexamethasone-Eluting Electrode into the Guinea Pig Cochlea PLOS ONE,9(10) 2014 Author:Takumi, Yutaka; Nishio, Shin-ya; Mugridge, Kenneth; Oguchi, Tomohiro; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Iwasaki, Satoshi; Jolly, Claude; Usami, Shin-ichi;
Effects of EAS cochlear implantation surgery on vestibular function ACTA OTO-LARYNGOLOGICA,133(11):1128-1132 2013(Nov.) Author:Tsukada, Keita; Moteki, Hideaki; Fukuoka, Hisakuni; Iwasaki, Satoshi; Usami, Shin-ichi;
Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations AURIS NASUS LARYNX,40(5):435-439 2013(Oct.) Author:Yoshida, Haruo; Takahashi, Haruo; Kanda, Yukihiko; Usami, Shin-ichi;
Prevalence of level V metastasis in head and neck squamous cell carcinoma ACTA OTO-LARYNGOLOGICA,133(2):218-224 2013(Feb.) Author:Kainuma, Kazuyuki; Yano, Takuya; Kitoh, Ryosuke; Naito, Takehiko; Usami, Shin-ichi;
An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,77(2):298-302 2013(Feb.) Author:Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation PLOS ONE,8(5) 2013 Author: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;
Pathogenic substitution of IVS15+5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome BMC MEDICAL GENETICS,14 2013 Author:Ganaha, Akira; Kaname, Tadashi; Yanagi, Kumiko; Naritomi, Kenji; Tono, Tetsuya; Usami, Shin-ichi; Suzuki, Mikio;
Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients PLOS ONE,8(8) 2013 Author:Miyagawa, Maiko; Naito, Takehiko; Nishio, Shin-ya; Kamatani, Naoyuki; Usami, Shin-ichi;
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients BMC MEDICAL GENETICS,14 2013 Author:Iwasa, Yoh-ichiro; Nishio, Shin-ya; Yoshimura, Hidekane; Kanda, Yukihiko; Kumakawa, Kozo; Abe, Satoko; Naito, Yasushi; Nagai, Kyoko; Usami, Shin-ichi;
Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS PLOS ONE,8(10) 2013 Author:Miyagawa, Maiko; Nishio, Shin-ya; Ikeda, Takuo; Fukushima, Kunihiro; Usami, Shin-ichi;
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion JOURNAL OF HUMAN GENETICS,57(9):587-592 2012(Sep.) Author:Moteki, Hideaki; Nishio, Shin-ya; Hashimoto, Shigenari; Takumi, Yutaka; Iwasaki, Satoshi; Takeichi, Norihito; Fukuda, Satoshi; Usami, Shin-ichi;
Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS) ACTA OTO-LARYNGOLOGICA,132(4):377-384 2012(Apr.) Author:Usami, Shin-ichi; Miyagawa, Maiko; Nishio, Shin-Ya; Moteki, Hideaki; Takumi, Yutaka; Suzuki, Mika; Kitano, Yoko; Iwasaki, Satoshi;
Language development in Japanese children who receive cochlear implant and/or hearing aid INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,76(3):433-438 2012(Mar.) Author:Iwasaki, Satoshi; Nishio, Shinya; Moteki, Hideaki; Takumi, Yutaka; Fukushima, Kunihiro; Kasai, Norio; Usami, Shin-ichi;
Comparison of the diagnostic value of 3 T MRI after intratympanic injection of GBCA, electrocochleography, and the glycerol test in patients with Meniere's disease ACTA OTO-LARYNGOLOGICA,132(2):141-145 2012(Feb.) Author:Fukuoka, Hisakuni; Takumi, Yutaka; Tsukada, Keita; Miyagawa, Maiko; Oguchi, Tomohiro; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-ichi;
Evaluation of the Time Course of Oxidative Stress in Patients with Sudden Sensorineural Hearing Loss 耳鼻咽喉科臨床,105(1):9-14 2012 Author:鬼頭 良輔; 宇佐美 真一; Keywords:oxidative stress; sudden sensorineural hearing loss; Free Radical Analytical System 4; reactive oxygen species; prediction of prognosis;
Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study PLOS ONE,7(2) 2012 Author:Usami, Shin-ichi; Nishio, Shin-ya; Nagano, Makoto; Abe, Satoko; Yamaguchi, Toshikazu; Deafness Gene Study Consortium;
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I MOLECULAR VISION,18(176-77):1719-1726 2012 Author:Jaijo, Teresa; Oshima, Aki; Aller, Elena; Carney, Carol; Usami, Shin-ichi; Millan, Jose M.; Kimberling, William J.;
Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study PLOS ONE,7(8) 2012 Author:Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi;
The first report of bilateral retropharyngeal lymph node metastasis from papillary thyroid carcinoma and review of the literature ACTA OTO-LARYNGOLOGICA,131(12):1341-1348 2011(Dec.) Author:Kainuma, Kazuyuki; Kitoh, Ryosuke; Yoshimura, Hidekane; Usami, Shin-ichi;
Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations ACTA OTO-LARYNGOLOGICA,131(11):1232-1236 2011(Nov.) Author:Moteki, Hideaki; Naito, Yasushi; Fujiwara, Keizo; Kitoh, Ryosuke; Nishio, Shin-ya; Oguchi, Kazuhiro; Takumi, Yutaka; Usami, Shin-ichi;
Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord ACTA OTO-LARYNGOLOGICA,131(9):976-982 2011(Sep.) Author:Furutate, Sakiko; Iwasaki, Satoshi; Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations JOURNAL OF HUMAN GENETICS,56(7):484-490 2011(Jul.) Author:Nakanishi, Hiroshi; Ohtsubo, Masafumi; Iwasaki, Satoshi; Hotta, Yoshihiro; Usami, Shin-ichi; Mizuta, Kunihiro; Mineta, Hiroyuki; Minoshima, Shinsei;
大唾液腺癌42例の臨床検討 頭頸部外科 = Journal of Japan Society for Head and Neck Surgery,21(1):97-102 2011(Jun. 30) Author:海沼 和幸; 佐野 健司; 鈴木 宏明; 鬼頭 良輔; 宇佐美 真一; Keywords:耳下腺; 顎下腺; 唾液腺悪性腫瘍; 予後因子;
IgG4-related chronic rhinosinusitis: A new clinical entity of nasal disease ACTA OTO-LARYNGOLOGICA,131(5):518-526 2011(May) Author:Moteki, Hideaki; Yasuo, Masanori; Hamano, Hideaki; Uehara, Takeshi; Usami, Shin-ichi;
唾液腺癌の組織学的悪性度診断と予後予測におけるFDG-PETの有用性の検討 頭頸部癌 = Head and neck cancer,37(1):73-77 2011(Apr. 25) Author:鬼頭 良輔; 海沼 和幸; 小口 和浩; 宇佐美 真一; Keywords:唾液腺癌; FDG-PET; standardized uptake value (SUV); 組織学的悪性度; 予後予測;
Achievement of hearing preservation in the presence of an electrode covering the residual hearing region ACTA OTO-LARYNGOLOGICA,131(4):405-412 2011(Apr.) Author:Usami, Shin-Ichi; Moteki, Hideaki; Suzuki, Nobuyoshi; Fukuoka, Hisakuni; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Jolly, Claude;
Inverted papilloma of the middle ear: A case report and review of the literature ACTA OTO-LARYNGOLOGICA,131(2):216-220 2011(Feb.) Author:Kainuma, Kazuyuki; Kitoh, Ryosuke; Kenji, Santo; Usami, Shin-Ichi;
Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation BMC MEDICAL GENETICS,12 2011 Author:Mutai, Hideki; Kouike, Hiroko; Teruya, Eiko; Takahashi-Kodomari, Ikuko; Kakishima, Hiroki; Taiji, Hidenobu; Usami, Shin-ichi; Okuyama, Torayuki; Matsunaga, Tatsuo;
Semi-quantitative evaluation of endolymphatic hydrops by bilateral intratympanic gadolinium-based contrast agent (GBCA) administration with MRI for Meniere's disease ACTA OTO-LARYNGOLOGICA,130(1):10-16 2010(Jan.) Author:Fukuoka, Hisakuni; Tsukada, Keita; Miyagawa, Maiko; Oguchi, Tomohiro; Takumi, Yutaka; Sugiura, Makoto; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-Ichi;
Hybrid carcinoma of the parotid gland: Report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature ACTA OTO-LARYNGOLOGICA,130(1):185-189 2010(Jan.) Author:Kainuma, Kazuyuki; Oshima, Aki; Suzuki, Hiroaki; Fukushima, Mana; Shimojo, Hisashi; Usami, Shin-Ichi;
Pivotal Advance: Eosinophilia in the MES rat strain is caused by a loss-of-function mutation in the gene for cytochrome b(-245), alpha polypeptide (Cyba) JOURNAL OF LEUKOCYTE BIOLOGY,86(3):473-478 2009(Sep.) Author:Mori, Masayuki; Li, Guixin; Hashimoto, Maiko; Nishio, Ayako; Tomozawa, Hiroshi; Suzuki, Nobuyoshi; Usami, Shin-ichi; Higuchi, Keiichi; Matsumoto, Kiyoshi;
Meningioma of the paranasal sinus: A case report AURIS NASUS LARYNX,34(3):397-400 2007(Sep.) Author:Kainuma, Kazuyuki; Takumi, Yutaka; Uehara, Takeshi; Usami, Shin-Ichi;
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese JOURNAL OF HUMAN GENETICS,52(6):510-515 2007(Jun.) Author:Fukuoka, Hisakuni; Kanda, Yukihiko; Ohta, Shuji; Usami, Shin-ichi;
mu-Crystallin as an intracellular 3,5,3 '-triiodothyronine holder in vivo MOLECULAR ENDOCRINOLOGY,21(4):885-894 2007(Apr.) Author:Suzuki, Satoru; Suzuki, Nobuyoshi; Mori, Jun-ichirou; Oshima, Aki; Usami, Shinichi; Hashizume, Kiyoshi;
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1 ACTA OTO-LARYNGOLOGICA,127(1):98-104 2007(Jan.) Author:Matsunaga, Tatsuo; Okada, Michiyo; Usami, Shin-Ichi; Okuyama, Torayuki;
Differences in the expression of genes between normal tissue and squamous cell carcinomas of head and neck using cancer-related gene cDNA microarray ACTA OTO-LARYNGOLOGICA,126(9):967-974 2006(Sep.) Author:Kainuma, Kazuyuki; Katsuno, Satoshi; Hashimoto, Shigenari; Oguchi, Tomohiro; Suzuki, Nobuyoshi; Asamura, Kenji; Usami, Shin-Ichi;
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene AMERICAN JOURNAL OF HUMAN GENETICS,79(3):449-457 2006(Sep.) Author:Van Camp, Guy; Snoeckx, Rikkert L.; Hilgert, Nele; van den Ende, Jenneke; Fukuoka, Hisakumi; Wagatsuma, Michio; Suzuki, Hiroaki; Smets, R. M. Erica; Vanhoenacker, Filip; Declau, Frank; Van De Heyning, Paul; Usami, Shin-ichi;
Association of SLC26A4 muations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct JOURNAL OF HUMAN GENETICS,51(9):805-810 2006(Sep.) Author:Iwasaki, Satoshi; Tsukamoto, Koji; Usami, Shinichi; Misawa, Kiyoshi; Mizuta, Kunihiro; Mineta, Hiroyuki;
An Immunoelectron Microscopic Analysis of the Glutamatergic Neurotransmission in the Organ of Corti of the Rat : The Afferent Transmission of Outer Hair Cell Synapses is Glutamatergic? ( ラットコルチ器におけるグルタミン酸神経伝達に関する免疫電子顕微鏡学的検討 : 外有毛細胞はグルタミン酸作動性か 弘前醫學,51:S125-S130 1999 Author:新川 秀一; 松原 篤; 工 穣; 川畑 裕子; 宇佐美 真一; Keywords:コルチ器; グルタミン酸; グルタミン酸レセプター; グルタミン酸トランスポーター; イムノゴールド;
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