Detalles de la búsqueda
1.
PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/ß-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.
Biochem Biophys Res Commun
; 698: 149510, 2024 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-38278051
2.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Proc Natl Acad Sci U S A
; 118(22)2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34050020
3.
Research and application progress in deep learning in otology. / 深度å¦ä¹ å¨è³ç§å¦ä¸çç 究ä¸åºç¨è¿å±.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 48(3): 463-471, 2023 Mar 28.
Artículo
en Inglés, Zh
| MEDLINE | ID: mdl-37164930
4.
Clinical characteristics and surgical strategy of glomus tympanicum tumors. / é¼å®¤ä½ç¤ç临åºç¹å¾åææ¯çç¥.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 48(3): 397-403, 2023 Mar 28.
Artículo
en Inglés, Zh
| MEDLINE | ID: mdl-37164923
5.
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Gene Ther
; 29(9): 479-497, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33633356
6.
Establishment of a risk index for early complications after trans-canal endoscopic ear surgery.
Am J Otolaryngol
; 43(3): 103429, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35427935
7.
Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.
Hum Mol Genet
; 28(24): 4103-4112, 2019 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31628468
8.
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Clin Genet
; 100(1): 3-13, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33624842
9.
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Eur Arch Otorhinolaryngol
; 278(8): 2807-2815, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32940795
10.
[New deafness gene: Progress of research on ABCC1 in biological barriers].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 907-911, 2021 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34487542
11.
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
Eur Arch Otorhinolaryngol
; 277(12): 3331-3339, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32447495
12.
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Genet Med
; 21(12): 2744-2754, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31273342
13.
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Neural Plast
; 2019: 7143458, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30936914
14.
[Giant cell reparative granuloma of the temporal bone: A case report].
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 44(8): 935-940, 2019 Aug 28.
Artículo
en Zh
| MEDLINE | ID: mdl-31570683
15.
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Hum Genet
; 137(4): 329-342, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29713870
16.
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
J Hum Genet
; 63(5): 639-646, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29531335
17.
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.
J Hum Genet
; 63(6): 723-730, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29559740
18.
Multivariate analysis of prognostic factors for idiopathic sudden sensorineural hearing loss treated with adjuvant hyperbaric oxygen therapy.
Eur Arch Otorhinolaryngol
; 275(1): 47-51, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29071444
19.
[Mechanism for synergistic effect of IRF4 and MITF on tyrosinase promoter].
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 43(5): 461-468, 2018 May 28.
Artículo
en Zh
| MEDLINE | ID: mdl-29886459
20.
Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
Biochem Biophys Res Commun
; 493(1): 258-262, 2017 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28893539