Auditory Neuropathy Spectrum Disorder
What's New
Last Posted: Apr 07, 2023
- Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder.
Mohammadi Sanaz, et al. Journal of genetics 2023 0 - Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing.
Sun Lianhua, et al. Frontiers in neurology 2022 0 1026695 - ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
Han Kyu-Hee, et al. Scientific reports 2017 0 (1) 16504 - Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
Kim Bong Jik, et al. Journal of translational medicine 2018 0 (1) 330 - Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder.
Chen Kaitian, et al. International journal of pediatric otorhinolaryngology 2018 0 19-23 - OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa Yoh-Ichiro, et al. PloS one 2019 0 (5) e0215932 - [OTOF-related auditory neuropathy spectrum disorder].
Lalayants M R, et al. Vestnik otorinolaringologii 2020 0 (2) 21-25 - Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa Yoh-Ichiro, et al. Human genetics 2021 0 (3-4) 865-875 - The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.
Omar R, et al. The Journal of laryngology and otology 2021 0 (11) 1000-1009 - Tone-Burst Auditory Brainstem Response and Cortical Potentials in Diagnosis of Syndromic Auditory Neuropathy Spectrum Disorder.
Kaf Wafaa A, et al. Journal of audiology & otology 2022 0 - Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.
Liao Elizabeth N et al. JAMA network open 2022 5(9) e2233441 - Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder.
Lee Sang-Yeon et al. Diagnostics (Basel, Switzerland) 2020 Sep 10(9) - Impact of Universal Newborn Hearing Screening on cochlear implanted children in Ireland.
Gabriel Melissa M et al. International journal of pediatric otorhinolaryngology 2020 Feb 133109975 - Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.
Chang Mun Young, et al. Medicine 2015 11 (47) e1996 - OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Iwasa YI, et al. BMC medical genetics 2013 9 (1) 1 - Auditory neuropathy spectrum disorder
From NCATS Genetic and Rare Diseases Information Center
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