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Milestones toward cochlear gene therapy for patients with hereditary hearing loss.
Published in:
Laryngoscope Investigative Otolaryngology, 2021, v. 6, n. 5, p. 958, doi. 10.1002/lio2.633
By:
- Yoshimura, Hidekane;
- Nishio, Shin‐Ya;
- Usami, Shin‐Ichi
Publication type:
Article
Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Published in:
2022
By:
- Iwasa, Yoh-ichiro;
- Nishio, Shin-ya;
- Yoshimura, Hidekane;
- Sugaya, Akiko;
- Kataoka, Yuko;
- Maeda, Yukihide;
- Kanda, Yukihiko;
- Nagai, Kyoko;
- Naito, Yasushi;
- Yamazaki, Hiroshi;
- Ikezono, Tetsuo;
- Matsuda, Han;
- Nakai, Masako;
- Tona, Risa;
- Sakurai, Yuika;
- Motegi, Remi;
- Takeda, Hidehiko;
- Kobayashi, Marina;
- Kihara, Chiharu;
- Ishino, Takashi
Publication type:
Correction Notice
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Published in:
Human Genetics, 2022, v. 141, n. 3/4, p. 865, doi. 10.1007/s00439-021-02351-7
By:
- Iwasa, Yoh-ichiro;
- Nishio, Shin-ya;
- Yoshimura, Hidekane;
- Sugaya, Akiko;
- Kataoka, Yuko;
- Maeda, Yukihide;
- Kanda, Yukihiko;
- Nagai, Kyoko;
- Naito, Yasushi;
- Yamazaki, Hiroshi;
- Ikezono, Tetsuo;
- Matsuda, Han;
- Nakai, Masako;
- Tona, Risa;
- Sakurai, Yuika;
- Motegi, Remi;
- Takeda, Hidehiko;
- Kobayashi, Marina;
- Kihara, Chiharu;
- Ishino, Takashi
Publication type:
Article
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1315, doi. 10.1007/s00439-020-02174-y
By:
- 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.
Publication type:
Article
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution‐based retrospective study.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63492
By:
- Sato, Ririko;
- Yoshimura, Hidekane;
- Kosho, Tomoki;
- Takumi, Yutaka
Publication type:
Article
Clinical and molecular features of patients with COL1‐related disorders: Implications for the wider spectrum and the risk of vascular complications.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2560, doi. 10.1002/ajmg.a.62887
By:
- Takeda, Ryojun;
- Yamaguchi, Tomomi;
- Hayashi, Shujiro;
- Sano, Shinichirou;
- Kawame, Hiroshi;
- Kanki, Sachiko;
- Taketani, Takeshi;
- Yoshimura, Hidekane;
- Nakamura, Yukio;
- Kosho, Tomoki
Publication type:
Article
Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis.
Published in:
PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092547
By:
- Yoshimura, Hidekane;
- Takumi, Yutaka;
- Nishio, Shin-ya;
- Suzuki, Nobuyoshi;
- Iwasa, Yoh-ichiro;
- Usami, Shin-ichi
Publication type:
Article
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1.
Published in:
PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090688
By:
- 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
Publication type:
Article
Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss.
Published in:
Life Science Alliance, 2023, v. 6, n. 3, p. 1, doi. 10.26508/lsa.202201592
By:
- Yoichiro Iwasa;
- Klimara, Miles J.;
- Hidekane Yoshimura;
- Walls, William D.;
- Ryotaro Omichi;
- West, Cody A.;
- Shibata, Seiji B.;
- Ranum, Paul T.;
- Smith, Richard J. H.
Publication type:
Article
A case of hematohidrosis successfully treated with a beta‐blocker.
Published in:
2023
By:
- Sha, Yoshikazu;
- Yoshimura, Hidekane;
- Saito, Shoji;
- Kitoh, Ryosuke;
- Takumi, Yutaka
Publication type:
Case Study
Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia-atresia.
Published in:
2021
By:
- Hidekane Yoshimura;
- Masahiro Takahashi;
- Satoshi Iwasaki;
- Jun Shinagawa;
- Ikkei Takashimizu;
- Fumio Nagai;
- Takatoshi Yotsuyanagi;
- Shin-ichi Usami
Publication type:
Case Study
Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4<sup>-/-</sup> mouse.
Published in:
BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01549-0
By:
- Koh, Jin-Young;
- Affortit, Corentin;
- Ranum, Paul T.;
- West, Cody;
- Walls, William D.;
- Yoshimura, Hidekane;
- Shao, Jian Q.;
- Mostaert, Brian;
- Smith, Richard J.H.
Publication type:
Article
Cochlear Implantation From the Perspective of Genetic Background.
Published in:
Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 563, doi. 10.1002/ar.24360
By:
- Usami, Shin‐ichi;
- Nishio, Shin‐ya;
- Moteki, Hideaki;
- Miyagawa, Maiko;
- Yoshimura, Hidekane
Publication type:
Article
Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness.
Published in:
Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 6S, doi. 10.1177/0003489415575549
By:
- 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
Publication type:
Article
Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness.
Published in:
2015
By:
- Yoshimura, Hidekane;
- Hashimoto, Takao;
- Murata, Toshinori;
- Fukushima, Kunihiro;
- Sugaya, Akiko;
- Nishio, Shin-ya;
- Usami, Shin-ichi
Publication type:
Case Study
USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms.
Published in:
2015
By:
- 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
Publication type:
Case Study
Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports.
Published in:
2015
By:
- Yoshimura, Hidekane;
- Oshikawa, Chie;
- Nakayama, Jun;
- Moteki, Hideaki;
- Usami, Shin-ichi
Publication type:
Case Study
Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153 913 newborns.
Published in:
International Journal of Epidemiology, 2024, v. 53, n. 3, p. 1, doi. 10.1093/ije/dyae052
By:
- Yoshimura, Hidekane;
- Okubo, Takuya;
- Shinagawa, Jun;
- Nishio, Shin-Ya;
- Takumi, Yutaka;
- Usami, Shin-Ichi
Publication type:
Article
Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI.
Published in:
PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0206891
By:
- Iwasa, Yoh-ichiro;
- Tsukada, Keita;
- Kobayashi, Masafumi;
- Kitano, Tomohiro;
- Mori, Kentaro;
- Yoshimura, Hidekane;
- Fukuoka, Hisakuni;
- Usami, Shin-ichi
Publication type:
Article
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Published in:
Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1437668
By:
- Kei-ichiro Inamori;
- Katsuya Nakamura;
- Fumi Shishido;
- Jia-Chen Hsu;
- Masakazu Nagafuku;
- Takahiro Nitta;
- Junji Ikeda;
- Hidekane Yoshimura;
- Minori Kodaira;
- Naomi Tsuchida;
- Naomichi Matsumoto;
- Satoshi Uemura;
- Shiho Ohno;
- Noriyoshi Manabe;
- Yoshiki Yamaguchi;
- Akira Togayachi;
- Aoki-Kinoshita, Kiyoko F.;
- Shoko Nishihara;
- Jun-ichi Furukawa;
- Tadashi Kaname
Publication type:
Article
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Published in:
BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-95
By:
- Yoh-ichiro Iwasa;
- Shin-ya Nishio;
- Hidekane Yoshimura;
- Yukihiko Kanda;
- Kozo Kumakawa;
- Satoko Abe;
- Yasushi Naito;
- Kyoko Nagai;
- Shin-ichi Usami
Publication type:
Article

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