Detalhe da pesquisa
1.
Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease.
Genes Immun
; 25(2): 124-131, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396174
2.
An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.
Hum Genet
; 143(3): 423-435, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38519595
3.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res
; 49(D1): D1130-D1137, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990755
4.
Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease.
J Med Genet
; 57(2): 82-88, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494579
5.
Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.
Ear Hear
; 41(6): 1598-1605, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33136635
6.
A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.
Hum Mol Genet
; 25(16): 3407-3415, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27329761
7.
Genetics of vestibular syndromes.
Curr Opin Neurol
; 31(1): 105-110, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095749
8.
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.
Hum Genomics
; 11(1): 11, 2017 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28532469
9.
A Systematic Review on the Genetic Contribution to Tinnitus.
J Assoc Res Otolaryngol
; 25(1): 13-33, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38334885
10.
Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease.
Cells
; 12(7)2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37048061
11.
Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease.
Genes (Basel)
; 15(1)2023 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254912
12.
The statistical analysis plan for the unification of treatments and interventions for tinnitus patients randomized clinical trial (UNITI-RCT).
Trials
; 24(1): 472, 2023 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488627
13.
A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss.
Eur J Hum Genet
; 30(11): 1301-1305, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071244
14.
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus.
NPJ Genom Med
; 7(1): 70, 2022 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450758
15.
Genetic Inheritance and Its Contribution to Tinnitus.
Curr Top Behav Neurosci
; 51: 29-47, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32705497
16.
Identification of Potential Meniere's Disease Targets in the Adult Stria Vascularis.
Front Neurol
; 12: 630561, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33613436
17.
DNA Methylation Signature in Mononuclear Cells and Proinflammatory Cytokines May Define Molecular Subtypes in Sporadic Meniere Disease.
Biomedicines
; 9(11)2021 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34829759
18.
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study.
EBioMedicine
; 66: 103309, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33813136
19.
Towards a unification of treatments and interventions for tinnitus patients: The EU research and innovation action UNITI.
Prog Brain Res
; 260: 441-451, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637231
20.
Unification of Treatments and Interventions for Tinnitus Patients (UNITI): a study protocol for a multi-center randomized clinical trial.
Trials
; 22(1): 875, 2021 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863270