Detalhe da pesquisa
1.
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Audiol Neurootol
; 28(6): 407-419, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331337
2.
Preimplantation genetic testing for hereditary hearing loss in Chinese population.
J Assist Reprod Genet
; 40(7): 1721-1732, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017887
3.
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Ear Hear
; 43(1): 1-8, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34039936
4.
Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.
Hum Mol Genet
; 28(24): 4103-4112, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628468
5.
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Genet Med
; 21(12): 2744-2754, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273342
6.
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Neural Plast
; 2019: 7143458, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30936914
7.
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
Int J Audiol
; 58(12): 834-850, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31264897
8.
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
Hum Genet
; 137(6-7): 437-446, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860631
9.
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Hum Genet
; 137(4): 329-342, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29713870
10.
Correction to: Preimplantation genetic testing for hereditary hearing loss in Chinese population.
J Assist Reprod Genet
; 40(7): 1733, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37093444
11.
Signaling in the Auditory System: Implications in Hair Cell Regeneration and Hearing Function.
J Cell Physiol
; 232(10): 2710-2721, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27869308
12.
Indispensable Role of Ion Channels and Transporters in the Auditory System.
J Cell Physiol
; 232(4): 743-758, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27704564
13.
Neurotransmitters: The Critical Modulators Regulating Gut-Brain Axis.
J Cell Physiol
; 232(9): 2359-2372, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27512962
14.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Hum Mol Genet
; 24(9): 2482-91, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25601850
15.
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
Hum Mutat
; 37(5): 481-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841241
16.
Molecular Structure and Regulation of P2X Receptors With a Special Emphasis on the Role of P2X2 in the Auditory System.
J Cell Physiol
; 231(8): 1656-70, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26627116
17.
Intricate Functions of Matrix Metalloproteinases in Physiological and Pathological Conditions.
J Cell Physiol
; 231(12): 2599-621, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27187048
18.
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Hum Genet
; 135(5): 513-524, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023905
19.
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Hum Genet
; 135(8): 953-61, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27344577
20.
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
J Gene Med
; 18(11-12): 353-358, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27886419