Detalhe da pesquisa
1.
Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment.
Ear Hear
; 45(1): 250-256, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37677959
2.
Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
Ear Hear
; 42(6): 1627-1639, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33908410
3.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.
J Hum Genet
; 65(10): 855-864, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467589
4.
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
Brain
; 138(Pt 3): 563-76, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564500
5.
Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition.
Proc Natl Acad Sci U S A
; 109(35): 14013-8, 2012 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22891314
6.
Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity.
Neurodegener Dis
; 15(2): 114-20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25791504
7.
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Hum Mol Genet
; 19(24): 4759-73, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858605
8.
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
Brain
; 139(Pt 6): e34, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016406
9.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Genes (Basel)
; 13(1)2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052489
10.
The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.
J Biol Chem
; 285(48): 37693-703, 2010 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20826782
11.
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.
Audiol Res
; 11(4): 639-652, 2021 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34940017
12.
Cochlear implantation in children with Autism Spectrum Disorder (ASD): Outcomes and implant fitting characteristics.
Int J Pediatr Otorhinolaryngol
; 149: 110876, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385039
13.
Speech Perception Changes in the Acoustically Aided, Nonimplanted Ear after Cochlear Implantation: A Multicenter Study.
J Clin Med
; 9(6)2020 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32517138
14.
Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy.
Front Neurosci
; 13: 501, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31191217
15.
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Int J Pediatr Otorhinolaryngol
; 104: 88-93, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29287889
16.
Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.
Hear Res
; 330(Pt B): 200-12, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188103
17.
An audiological perspective on ''Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?"
Mol Genet Genomic Med
; 8(9): e1283, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500959
18.
BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.
PLoS One
; 6(8): e23279, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21876744
19.
Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.
J Assoc Res Otolaryngol
; 10(4): 545-56, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19636622
20.
Audiological and electrocochleography findings in hearing-impaired children with connexin 26 mutations and otoacoustic emissions.
Eur Arch Otorhinolaryngol
; 265(1): 43-51, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17701047