Results 21 to 30 of about 43,390 (337)
Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023 Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang +5 more
wiley +1 more source
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. [PDF]
, 2015 Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene.
Arslan, E +12 more
core +3 more sources
A comparative study of eight human auditory models of monaural processing [PDF]
, 2021 A number of auditory models have been developed using diverging approaches, either physiological or perceptual, but they share comparable stages of signal processing, as they are inspired by the same constitutive parts of the auditory system. We compare eight monaural models that are openly accessible in the Auditory Modelling Toolbox.
arxiv +1 more source
COCHLEAR NERVE APLASIA AND COCHLEAR IMPLANTATION: AUTHOR'S REPLY
Otology & Neurotology, 2001 Gerard M. O’Donoghue
openalex +3 more sources
Direct administration of 2-hydroxypropyl-beta-cyclodextrin into guinea pig cochleae: Effects on physiological and histological measurements [PDF]
, 2017 Cochlear response measurements from two different animals made before (red) and after (blue) treatment with HPβCD (Panel A) and TTX (Panel B) to 80 dB SPL 4 kHz tone bursts. Cochlear response waveform maintained CAP-like morphology after HPβCD treatment,
Buchman, C. A. +4 more
core +12 more sources
International Archives of Otorhinolaryngology, 2013 Summary Introduction: Few cases of cochlear implantation (CI) in neurofibromatosis type 2 (NF2) patients had been reported in the literature. The approaches described were translabyrinthine, retrosigmoid or middle cranial fossa.
Ricardo Ferreira Bento +4 more
doaj +1 more source
Acta Oto-Laryngologica Case Reports, 2021 Inner ear malformations are one of the common causes of hearing loss. Common cavity is extremely rare among the types of inner ear anomalies. In this study, 8-years development period of a boy with common cavity is presented.
Hilal Burcu Ozkan +5 more
doaj +1 more source
Development of brainstem-evoked responses in congenital auditory deprivation [PDF]
, 2012 To compare the development of the auditory system in hearing and completely acoustically deprived animals, naive congenitally deaf white cats (CDCs) and hearing controls (HCs) were investigated at different developmental stages from birth till adulthood.
Hartmann, Rainer +4 more
core +4 more sources
Nicotine induced ototoxicity in rat cochlear organotypic cultures
Translational Neuroscience, 2021 Epidemiological evidence has shown that smoking is associated with an increased risk of hearing loss. However, the underlying mechanisms regarding the impact of nicotine on the cochlea remain unclear. This study aimed to investigate the cytotoxic effects
Zhao Yi +7 more
doaj +1 more source
Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy [PDF]
, 2004 Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).Methods: Auditory assessment was undertaken in two patients with LHON.
Ceranic, B, Luxon, LM
core +2 more sources