Search Results - "BEYNON, Andy J"
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Kidney failure in mice lacking the tetraspanin CD151
Published in The Journal of cell biology (09-10-2006)“…The tetraspanin CD151 is a cell-surface molecule known for its strong lateral interaction with the laminin-binding integrin α3β1. Patients with a nonsense…”
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2
Use of an Extra-Tympanic Membrane Electrode to Record Cochlear Microphonics with Click, Tone Burst and Chirp Stimuli
Published in Audiology research (Pavia, Italy) (01-03-2021)“…This study determined electrocochleography (ECochG) parameter settings to obtain cochlear microphonics (CM) with less invasive flexible extra-tympanic membrane…”
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3
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
Published in Genes (10-02-2023)“…The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients…”
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4
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
Published in Biomolecules (Basel, Switzerland) (27-01-2022)“…Pathogenic missense variants in are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without…”
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5
ATP8B1 is essential for maintaining normal hearing
Published in Proceedings of the National Academy of Sciences - PNAS (16-06-2009)“…ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1)…”
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6
Intracorporeal Cortical Telemetry as a Step to Automatic Closed-Loop EEG-Based CI Fitting: A Proof of Concept
Published in Audiology research (Pavia, Italy) (13-12-2021)“…Electrically evoked auditory potentials have been used to predict auditory thresholds in patients with a cochlear implant (CI). However, with exception of…”
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Cochlear implantation and quality of life in postlingually deaf adults: Long-term follow-up
Published in Otolaryngology-head and neck surgery (01-04-2007)“…To investigate long-term quality of life (QoL) in postlingually deaf adults after entering the cochlear implantation (CI) program. Follow-up study from 1998…”
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The effect of device use after sequential bilateral cochlear implantation in children: an electrophysiological approach
Published in International journal of pediatric otorhinolaryngology (01-07-2016)“…Abstract Objective In many studies evaluating the effect of sequential bilateral cochlear implantation in congenitally deaf children, device use is not taken…”
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9
A Comparison of Surgical Treatments for Superior Semicircular Canal Dehiscence: A Systematic Review
Published in Otology & neurotology (01-01-2017)“…OBJECTIVE:We investigate the postoperative subjective and objective outcomes of different surgical treatments for superior semicircular canal dehiscence…”
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10
Prediction of Vestibular Schwannoma Growth: A Novel Rule Based on Clinical Symptomatology
Published in Annals of otology, rhinology & laryngology (01-12-2011)“…Objectives: The aim of this study was to formulate a predictive rule for vestibular schwannoma growth during the initial observation period after diagnosis…”
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11
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss
Published in Molecular genetics and metabolism (01-04-2022)“…Some pathogenic variants in mtDNA and nuclear DNA, affecting mitochondrial function, are associated with hearing loss. Behavioral and electrophysiological…”
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12
Electrically evoked auditory cortical responses elicited from individually fitted stimulation parameters in cochlear implant users
Published in International journal of audiology (03-07-2023)“…To investigate electrically evoked auditory cortical responses (eACR) elicited from the stimulation of intracochlear electrodes based on individually fitted…”
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13
Auditory brainstem response prior to MRI compared to standalone MRI in the detection of vestibular schwannoma: A modelling study
Published in Clinical otolaryngology (01-03-2022)“…Objectives To determine the cost‐effectiveness of auditory brainstem response prior to MRI (ABR‐MRI) compared to standalone MRI to diagnose vestibular…”
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14
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
Published in Human genetics (01-01-2019)“…ATP2B2 encodes the PMCA2 Ca 2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca 2+ from the…”
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15
Impact of cochlear implantation on the function of the three semicircular canals
Published in International journal of audiology (30-10-2020)“…To assess the effect of cochlear implantation on the function of the semicircular canals (SCC) and on experienced vestibular symptoms. Second, to determine the…”
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16
The P300 auditory event-related potential as a method to assess the benefit of contralateral hearing aid use in bimodal listeners: a proof-of-concept
Published in International journal of audiology (02-01-2020)“…Objective: Bimodal listeners vary in the amount of benefit they receive from wearing the contralateral hearing aid. This may partially depend on the listener's…”
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17
A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype
Published in Otology & neurotology (01-04-2021)“…To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss. Genotype-phenotype correlation study. Genetic analysis…”
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18
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome
Published in Human molecular genetics (01-03-2013)“…Euchromatin histone methyltransferase 1 (EHMT1) is a highly conserved protein that catalyzes mono- and dimethylation of histone H3 lysine 9, thereby…”
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Age-Related Changes in Binaural Interaction at Brainstem Level
Published in Ear and hearing (01-07-2016)“…OBJECTIVES:Age-related hearing loss hampers the ability to understand speech in adverse listening conditions. This is attributed to a complex interaction of…”
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Gamma knife radiosurgery for vestibular schwannomas: Results of hearing preservation in relation to the cochlear radiation dose
Published in The Laryngoscope (01-06-2009)“…Objectives/Hypothesis: This study was designed to evaluate hearing preservation after gamma knife radiosurgery (GKRS) and to determine the relation between…”
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