Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Auditory Neuropathy Spectrum Disorder[original query] |
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OTOF mutation screening in Japanese severe to profound recessive hearing loss patients. BMC medical genetics 2013 Sep 14 (1): 1. Iwasa YI, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami SI |
Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications. Medicine 2015 Nov 94 (47): e1996. Chang Mun Young, Kim Ah Reum, Kim Nayoung K D, Lee Chung, Park Woong-Yang, Choi Byung Yo |
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. Scientific reports 2017 11 7 (1): 16504. Han Kyu-Hee, Oh Doo-Yi, Lee Seungmin, Lee Chung, Han Jin Hee, Kim Min Young, Park Hye-Rim, Park Moo Kyun, Kim Nayoung K D, Lee Jaekwang, Yi Eunyoung, Kim Jong-Min, Kim Jeong-Whun, Chae Jong-Hee, Oh Seung Ha, Park Woong-Yang, Choi Byung Yo |
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics. Journal of translational medicine 2018 11 16 (1): 330. Kim Bong Jik, Jang Jeong Hun, Han Jin Hee, Park Hye-Rim, Oh Doo Yi, Lee Seungmin, Kim Min Young, Kim Ah Reum, Lee Chung, Kim Nayoung K D, Park Woong-Yang, Choung Yun-Hoon, Choi Byung Yo |
Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder. International journal of pediatric otorhinolaryngology 2018 10 115 19-23. Chen Kaitian, Liu Min, Wu Xuan, Zong Ling, Jiang Hongy |
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients. PloS one 2019 5 14 (5): e0215932. 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-Ic |
[OTOF-related auditory neuropathy spectrum disorder]. Vestnik otorinolaringologii 2020 6 85 (2): 21-25. Lalayants M R, Mironovich O L, Bliznets E A, Markova T G, Polyakov A V, Tavartkiladze G |
The audiovestibular profile of Brown-Vialetto-Van Laere syndrome. The Journal of laryngology and otology 2021 9 135 (11): 1000-1009. Omar R, Rajput K, Sirimanna T, Rajput S, Pagarkar |
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Human genetics 2021 9 141 (3-4): 865-875. 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, Morita Shin-Ya, Iwasaki Satoshi, Takahashi Masahiro, Furutate Sakiko, Oka Shin-Ichiro, Kubota Toshinori, Arai Yasuhiro, Kobayashi Yumiko, Kikuchi Daisuke, Shintani Tomoko, Ogasawara Noriko, Honkura Yohei, Izumi Shuji, Hyogo Misako, Ninoyu Yuzuru, Suematsu Mayumi, Nakayama Jun, Tsuchihashi Nana, Okami Mayuri, Sakata Hideaki, Yoshihashi Hiroshi, Kobayashi Taisuke, Kumakawa Kozo, Yoshida Tadao, Esaki Tomoko, Usami Shin-Ic |
Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing. Frontiers in neurology 2022 12 13 1026695. Sun Lianhua, Lin Zhengyu, Zhang Jifang, Shen Jiali, Wang Xiaowen, Yang J |
Tone-Burst Auditory Brainstem Response and Cortical Potentials in Diagnosis of Syndromic Auditory Neuropathy Spectrum Disorder. Journal of audiology & otology 2022 11 . Kaf Wafaa A, Reiter Samantha, Brodeur Amanda, White-Minnis Letitia, Deal Willi |
Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder. Journal of genetics 2023 3 102 . Mohammadi Sanaz, Khamirani Hossein Jafari, Zoghi Sina, Dastgheib Seyed Alireza, Bagher Tabei Seyed Mohammad, Talebzadeh Mahdieh, Adibi Mohammad Hossein, Dianatpour Meh |
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