Results 81 to 90 of about 109,929 (262)
Longitudinal Cochlear Implant Use in Pediatric Patients With Unilateral Hearing Loss
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To characterize longitudinal cochlear implant (CI) usage patterns in children with unilateral hearing loss (UHL) and evaluate the impact of age at implantation and duration of deafness on device use. Study Design Retrospective cohort study. Setting Two academic tertiary care centers. Methods Pediatric CI recipients with UHL implanted
David Octeau +5 more
wiley +1 more source
TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia
CNS Neuroscience &Therapeutics, EarlyView., 2023 Mutations identified from four SCZ pedigrees resulted in decreased TULP4 expression. Tulp4 knockdown caused delayed neuron migration in embryonic mice, and impaired cognition and prepulse inhibition in adult mice. These phenotypes may be related to TULP4 through its involvement in the formation of a novel E3 ubiquitin ligases.
Yan Bi +19 more
wiley +1 more source
Does a pleiotropic gene explain deafness and blue irises in white cats?
, 2007 The prevalence of deafness is high in cat populations in which the dominant white gene is segregating. The objective of this study was to investigate whether there is a gene that is responsible for deafness as well as for blue eyes and to establish a ...
Jaggy, André +5 more
core +1 more source
Effects of Asymmetric Auditory Deprivation in Sequential Cochlear Implant
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To evaluate the influence of auditory deprivation on sequential cochlear implants in postlingual patients, comparing the ear with shorter deprivation (ESAD), longer deprivation (ELAD), and the bilateral condition (BIL). Study design Retrospective study. Setting A tertiary referral center.
Eduardo S. Farinazzo +4 more
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
A mouse model for hearing and balance defects in campomelic dysplasia
, 2007 The 6th Molecular Biology of Hearing and Deafness Conference, Hinxton, U.K., 11-14 July ...
Lovell-Badge, RH +7 more
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Molecular genetic studies of deafness [PDF]
, 1999 The aim of this work on the molecular genetics of deafness was to study the molecular basis of deafness in several families with non-syndromic and syndromic forms of deafness, including X-linked deafness and autosomal recessive Jervell and Lange-Nielsen ...
Tyson, Jessica Grace
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Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models
Pediatric Discovery, EarlyView.ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou +3 more
wiley +1 more source
Imaging in sensorineural deafness.
, 2002 In this paper, the authors describe, in details, the techniques and the indication of CT scanner and MRI for the evaluation of neurosensory deafness. CT scanner allows to study bony and pneumatized structures of the ear.
Decat, Monique, Cosnard, Guy
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