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The Era of Precision Medicine: Reshaping Usher Syndrome
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참고문헌 (9)
- Bonnet C, "Usher syndrome(sensorineural deafness and retinitis pigmentosa) : pathogenesis, molecular diagnosis and therapeutic approaches", Curr Opin Neurol, 25(1), pp.42~49 (2012)
- Boughman JA, "Usher syndrome : definition and estimate of prevalence from two high-risk populations", J Chronic Dis, 36(8), pp.595~603 (1983)
- Kimberling WJ, "Frequency of Usher syndrome in two pediatric populations : implications for genetic screening of deaf and hard of hearing children", Genet Med, 12(8), pp.512~516 (2010)
- 이상연, "Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation", Clinical and Experimental Otorhinolaryngology, 13(2), pp.113~122 (2020), 대한이비인후과학회[DOI]
- Eandi CM, "Targeted next generation sequencing in Italian patients with Usher syndrome : phenotype-genotype correlations", Sci Rep, 7(1), pp.15681~ (2017)
- Hartel BP, "A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa", Hear Res, 339, pp.60~68 (2016)
- Isgrig K, "Gene therapy restores balance and auditory functions in a mouse model of usher syndrome", Mol Ther, 25(3), pp.780~791 (2017)
- Pan B, "Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c", Nat Biotechnol, 35(3), pp.264~272 (2017)
- Lentz JJ, "Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness", Nat Med, 19(3), pp.345~350 (2013)
관련 논문AI추천
Genetic Information and Precision Medicine in Hearing Loss오두이, 최병윤대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2020 · 제13권 제4호Updates on Genetic Hearing Loss: From Diagnosis to Targeted TherapiesLee Sang-Yeon, Yun Yejin대한청각학회 · Journal of Audiology & Otology2024 · 제28권 제2호Precision Medicine Approach to Cochlear Implantation김예리, 최병윤대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2022 · 제15권 제4호Application of Genetic Information to Cochlear Implantation in Clinical PracticeWu Chen-Chi대한청각학회 · Journal of Audiology & Otology2024 · 제28권 제2호Application of Next Generation Sequencing Upon the Molecular Genetic Diagnosis of Deafness김봉직, 최병윤대한청각학회 · Journal of Audiology & Otology2012 · 제16권 제1호유전성 난청의 진단과 치료나지나, 정진세대한이비인후과학회 부산,울산,경남 지부회 · 임상이비인후과2021 · 제32권 제1호
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