Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome [PDF]
, 2013 Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65-70% of cases. Most CHD7 mutations arise de novo, and no mutations affecting exon-7 have been
Eng, Christine M. +7 more
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Executive functioning and speech-language skills following long-term use of cochlear implants [PDF]
, 2014 Neurocognitive processes such as executive functioning (EF) may influence the development of speech-language skills in deaf children after cochlear implantation in ways that differ from normal-hearing, typically developing children.
Colson, Bethany G. +3 more
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Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 [PDF]
, 2018 Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription ...
Alkanderi, S +17 more
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Patency of the cochlear aqueduct in Menière’s disease
, 2013 Introduction: The cochlear aqueduct (CA) plays an important role in the hydrostatic inner ear pressure regulation. Its function can be impaired in inner ear pressure disorders such as in Menière’s disease. Due to its narrow diameter the patency of CA in patients with Menière’s[for full text, please go to the a.m. URL]
Park, JJH, Shen, A, Westhofen, M
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Extreme sensitivity of hearing to decreases of ICP in Menière's disease [PDF]
, 2018 We report the case of a Menière's disease patient affected by normal pressure hydrocephalus (NPH) who presented a cerebrospinal fluid (CSF) pressure-dependent hearing impairment after shunting.
Kurzbuch, Arthur +3 more
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Studies of intercellular Ca2+ signaling and gap-junction coupling in the developing cochlea of mouse models affected by congenital hearing loss [PDF]
, 2013 Connexin 26 (Cx26) and connexin 30 (Cx30) form gap junction channels that allow the intercellular diffusion of the Ca2+ mobilizing second messenger IP3.
Rodriguez Hernandez, Laura
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Familial pattern of large vestibular aqueduct syndrome in a Chinese family [PDF]
, 2013 Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence ...
Ab Aziz, A, Asma, A, Hazmi, M
core
Changes of cochlear function during cochlear fluids manipulations [PDF]
, 2015 Spatial origins of compound action potential responses to varying stimulation rates, frequencies, and levels were investigated. A technique to measure the regions in the cochlea generating each response in which a neurotoxic drug (kainic acid) is slowly ...
Donovan, Kathryn Marie
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Durations of repeated non-words for children with cochlear implants [PDF]
, 2016 Durations of syllables for repeated non-words were calculated for 76 children with cochlear implants (CIs) and 16 children with normal hearing (NH). Average syllable durations did not differ significantly between the groups, however a final syllable ...
Johnson, Kathryn Marguerite
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The role of SLC26A4 in bony labyrinth development and otoconial mineralization in mouse models
Frontiers in Molecular NeuroscienceInner ear malformations are predominantly attributed to developmental arrest during the embryonic stage of membranous labyrinth development. Due to the inherent difficulty in clinically assessing the status of the membranous labyrinth, these ...
Taku Ito +5 more
doaj +1 more source