Zobrazeno 1 - 10
of 416
pro vyhledávání: '"Pu, Dai"'
Autor:
Haifeng Feng, Shasha Huang, Ying Ma, Jinyuan Yang, Yijin Chen, Guojian Wang, Mingyu Han, Dongyang Kang, Xin Zhang, Pu Dai, Yongyi Yuan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear w
Externí odkaz:
https://doaj.org/article/692e7f1966154a87b7be9644b1de4a3f
Autor:
Xue Gao, Weiqian Wang, Jincao Xu, Shasha Huang, Kun Yang, Jinyuan Yang, Yijin Chen, Guojian Wang, Mingyu Han, Zhendong Wang, Dongyang Kang, Yongyi Yuan, Pu Dai
Publikováno v:
Genes and Diseases, Vol 11, Iss 4, Pp 101018- (2024)
Externí odkaz:
https://doaj.org/article/c153ef6cad8e4a96b396ebe4bca7d10c
Autor:
Pu, Dai, Cameron, Peter, Chapman, Wendy, Greenstock, Louise, Sanci, Lena, Callisaya, Michele L., Haines, Terry
Publikováno v:
In Australasian Emergency Care June 2024 27(2):102-108
Autor:
Dejun Zhang, Jie Wu, Yongyi Yuan, Xiaohong Li, Xue Gao, Dongyang Kang, Xin Zhang, Sha-sha Huang, Pu Dai
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27041- (2024)
Mitochondrial transfer RNA mutation is one of the most important causes of hereditary hearing loss in humans. Mitochondrial transfer RNASer (UCN) gene is another hot spot for mutations associated with non-syndromic hearing loss, besides the 12S ribos
Externí odkaz:
https://doaj.org/article/1796d39c7d98440f93dd6ec8d217980d
Autor:
Jianbin Sun, Ruoya Wang, Xingrui Chen, Jianze Wang, Da Liu, Na Sai, Yuhua Zhu, Jun Liu, Weidong Shen, Pu Dai, Shiming Yang, Dongyi Han, Weiju Han
Publikováno v:
Head & Face Medicine, Vol 19, Iss 1, Pp 1-14 (2023)
Abstract Background Iatrogenic facial nerve injury is one of the severest complications of middle ear surgery, this study aims to evaluate surgical management and prognosis in the era of improved surgical instruments. Methods Patients suffered from f
Externí odkaz:
https://doaj.org/article/fe0c55ff59fc4befb2beff861a6083cb
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
BackgroundCochlear implantation (CI) outcomes in patients with auditory neuropathy (AN) are variable, which hampers patients’ decisions on CI.ObjectiveThis study aims to assess the outcomes of CI in individuals diagnosed with AN and to examine the
Externí odkaz:
https://doaj.org/article/11c243616e7d4a9c8a309d9f8683c059
Autor:
Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-16 (2022)
Abstract Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one ARNSHL family including two affected siblings and identified MYO15A c.5964+3G > A and c.8375 T
Externí odkaz:
https://doaj.org/article/ee9185e4b81c4596b2cae7e39d7fd8bc
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there i
Externí odkaz:
https://doaj.org/article/22567e5754b541d2a2128b6db4f6a3be
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-32 (2022)
Abstract Background Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. Here, we examined the role and the genotype–phenotype correlation of MYO15A variants in
Externí odkaz:
https://doaj.org/article/1b643365b4b6485ca558e8e9a523319a
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic coun
Externí odkaz:
https://doaj.org/article/a0465ed23d514541b7fd3a0264e18424