Detalhe da pesquisa
1.
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
BMC Genomics
; 25(1): 359, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605287
2.
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
3.
Thalamic Foxp2 regulates output connectivity and sensory-motor impairments in a model of Huntington's Disease.
Cell Mol Life Sci
; 80(12): 367, 2023 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987826
4.
Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease.
Neurobiol Dis
; 173: 105854, 2022 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029989
5.
Genetic etiology of non-syndromic hearing loss in Europe.
Hum Genet
; 141(3-4): 683-696, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35044523
6.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Am J Hum Genet
; 103(1): 74-88, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961571
7.
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
8.
Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.
EMBO J
; 35(23): 2536-2552, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27458190
9.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
J Transl Med
; 17(1): 290, 2019 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455392
10.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160754
11.
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Am J Hum Genet
; 91(5): 883-9, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122587
12.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Pediatr Res
; 78(1): 97-102, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25785835
13.
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Am J Hum Genet
; 88(5): 621-7, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549336
14.
Similar phenotypes caused by mutations in OTOG and OTOGL.
Ear Hear
; 35(3): e84-91, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24378291
15.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Biomedicines
; 11(11)2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38001944
16.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Audiol Res
; 13(3): 341-346, 2023 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218840
17.
Genetics of Hearing Impairment.
Genes (Basel)
; 13(5)2022 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627237
18.
Meridianins Rescue Cognitive Deficits, Spine Density and Neuroinflammation in the 5xFAD Model of Alzheimer's Disease.
Front Pharmacol
; 13: 791666, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281935
19.
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
20.
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hum Mutat
; 32(7): 825-34, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21520338