第 1 到 15 筆結果,共 15 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2020 | Efficient in Utero Gene Transfer to the Mammalian Inner Ears by the Synthetic Adeno-Associated Viral Vector Anc80L65 | Hu C.-J.; Lu Y.-C.; Tsai Y.-H.; Cheng H.-Y.; Takeda H.; Huang C.-Y.; Xiao R.; Hsu C.-J.; Tsai J.-W.; Vandenberghe L.H.; Chen-Chi Wu ; Cheng Y.-F. | Molecular Therapy - Methods and Clinical Development | 11 | 11 | |
2 | 2020 | Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene | Huang C.-Y.; Tsai Y.-H.; Tsai Y.-C.; Lu Y.-C.; Chan Y.-H.; Hsu C.-J.; Chiou S.-H.; Chen-Chi Wu ; Cheng Y.-F. | Stem Cell Research | 2 | 1 | |
3 | 2020 | Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation | Cheng Y.-F.; Tsai Y.-H.; Huang C.-Y.; Lee Y.-S.; Chang P.-C.; Lu Y.-C.; Hsu C.-J.; Chen-Chi Wu | Biochemical and Biophysical Research Communications | 6 | 7 | |
4 | 2019 | Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation | Cheng Y.-F.; Chan Y.-H.; Hu C.-J.; Lu Y.-C.; Saeki T.; Hosoya M.; Saegusa C.; Fujioka M.; Okano H.; Weng S.-M.; Hsu C.-J.; Chang K.-H.; Chen-Chi Wu | Stem Cell Research | 5 | 4 | |
5 | 2019 | Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct | Lin Y.-H.; Chen-Chi Wu ; Lin Y.-H.; Lu Y.-C.; Chen C.-S.; TIEN-CHEN LIU ; PEI-LUNG CHEN ; Hsu C.-J. | Journal of Molecular Diagnostics | 10 | 7 | |
6 | 2017 | A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss | Lin Y.-H.; Lin Y.-H.; Lu Y.-C.; TIEN-CHEN LIU ; Chen C.-Y.; Hsu C.-J.; PEI-LUNG CHEN ; CHIEN-YU CHEN ; CHEN-CHI WU | Scientific Reports | 20 | 19 | |
7 | 2015 | Contribution of adiponectin and its type 1 receptor to age-related hearing impairment | Chen-Chi Wu ; Tsai C.-H.; Lu Y.-C.; Lin H.-C.; Hwang J.-H.; Lin Y.-H.; WEI-SHIUNG YANG ; PEI-JER CHEN ; WEI-CHIH LIAO ; Lee Y.L.; TIEN-CHEN LIU ; Hsu C.-J. | Neurobiology of Aging | 14 | 13 | |
8 | 2013 | Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment | Chen-Chi Wu ; Lin Y.-H.; Lu Y.-C.; PEI-JER CHEN ; WEI-SHIUNG YANG ; Hsu C.-J.; PEI-LUNG CHEN | PLoS ONE | 33 | 47 | |
9 | 2013 | Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice | Lu Y.-C.; Chen-Chi Wu ; TING-HUA YANG ; Lin Y.-H.; Yu I.-S.; SHU-WHA LIN ; Chang Q.; Lin X.; Wong J.-M.; Hsu C.-J. | PLoS ONE | 23 | 17 | |
10 | 2012 | Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome | Wang S.-H.; Chen-Chi Wu ; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU ; Yu I.-S.; Hsu C.-J. | Laryngoscope | 27 | 19 | |
11 | 2011 | Establishment of a knock-in mouse model with the SLC26A4 c.919-2a>G mutation and characterization of its pathology | Lu Y.-C.; Chen-Chi Wu ; Shen W.-S.; TING-HUA YANG ; TE-HUEI YEH ; PEI-JER CHEN ; Yu I.-S.; SHU-WHA LIN ; Wong J.-M.; Chang Q.; Lin X.; Hsu C.-J. | PLoS ONE | 42 | 39 | |
12 | 2010 | Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome | Chen-Chi Wu ; Lu Y.-C.; PEI-JER CHEN ; Yeh P.-L.; Su Y.-N.; WUH-LIANG HWU ; Hsu C.-J. | Audiology and Neurotology | 62 | 56 | |
13 | 2010 | Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy | Chiu Y.-H.; Chen-Chi Wu ; Lu Y.-C.; PEI-JER CHEN ; Lee W.-Y.; Liu A.Y.-Z.; Hsu C.-J. | Audiology and Neurotology | 49 | 49 | |
14 | 2009 | Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment | CHEN-CHI WU ; Lu Y.-C.; PEI-JER CHEN ; Liu A.Y.-Z.; WUH-LIANG HWU ; Hsu C.-J. | Laryngoscope | 15 | 15 | |
15 | 2008 | Prospective mutation screening of three common deafness genes in a large Taiwanese cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities | Chen-Chi Wu ; PEI-JER CHEN ; Chiu Y.-H.; Lu Y.-C.; Wu M.-C.; Hsu C.-J. | Audiology and Neurotology | 33 | 33 |