논문KCI 등재
Genetic Information and Precision Medicine in Hearing Loss
2
조회
0
다운로드
0
인용
0
참고문헌
참고문헌 (18)
- Morton CC, "Newborn hearing screening : a silent revolution", N Engl J Med, 354(20), pp.2151~2164 (2006)
- Smith RJ, "Sensorineural hearing loss in children", Lancet, 365(9462), pp.879~890 (2005)
- Kim NK, "Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population", Genet Med, 17(11), pp.901~911 (2015)
- Kim BJ, "Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach", Genet Med, 22(6), pp.1119~1128 (2020)
- Yongbo Yu, "Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct", Clinical and Experimental Otorhinolaryngology, 12(1), pp.50~57 (2019), 대한이비인후과학회[DOI]
- "Hereditary hearing loss homepage" (2020)[URL]
- 최수영, "Construction of a DNA Chip for Screening of Genetic Hearing Loss", Clinical and Experimental Otorhinolaryngology, 2(1), pp.44~47 (2009), 대한이비인후과학회
- Han KH, "Establishment of a flexible real-time polymerase chain reaction-based platform for detecting prevalent deafness mutations associated with variable degree of sensorineural hearing loss in Koreans", PLoS One, 11(9), pp.e0161756~ (2016)
- Shearer AE, "Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing", Proc Natl Acad Sci USA, 107(49), pp.21104~21109 (2010)
- Tang W, "A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach", Genet Test Mol Biomarkers, 16(6), pp.536~542 (2012)
- Rehman AU, "Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79", Am J Hum Genet, 86(3), pp.378~388 (2010)
- Nishio SY, "Outcomes of cochlear implantation for the patients with specific genetic etiologies : a systematic literature review", Acta Otolaryngol, 137(7), pp.730~742 (2017)
- Wu CC, "Identifying children with poor cochlear implantation outcomes using massively parallel sequencing", Medicine(Baltimore), 94(27), pp.e1073~ (2015)
- Han KH, "ATP1A3 mutations can cause progressive auditory neuropathy : a new gene of auditory synaptopathy", Sci Rep, 7(1), pp.16504~ (2017)
- Kim BJ, "Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans : eliciting reciprocal interaction between bench and clinics", J Transl Med, 16(1), pp.330~ (2018)
- Nakanishi H, "NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy", Proc Natl Acad Sci U S A, 114(37), pp.E7766~E7775 (2017)
- Kim BJ, "Otological aspects of NLRP3-related autoinflammatory disorder focusing on the responsiveness to anakinra", Rheumatology (Oxford) (2020)[DOI]
- Nist-Lund CA, "Improved TMC1 gene therapy restores hearing and balance in mice with genetic inner ear disorders", Nat Commun, 10(1), pp.236~ (2019)
관련 논문AI추천
The Era of Precision Medicine: Reshaping Usher Syndrome정진세대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2020 · 제13권 제2호Updates on Genetic Hearing Loss: From Diagnosis to Targeted TherapiesLee Sang-Yeon, Yun Yejin대한청각학회 · Journal of Audiology & Otology2024 · 제28권 제2호유전성 난청의 이해와 평가오승하대한이비인후과학회 · 대한이비인후과학회지 두경부외과학2003 · 제46권 제11호Application of Genetic Information to Cochlear Implantation in Clinical PracticeWu Chen-Chi대한청각학회 · Journal of Audiology & Otology2024 · 제28권 제2호Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III김은경, 문인석, 이세아, 정진세, 지헌영, 최재영대한이비인후과학회 · Clinical and Experimental Otorhinolaryngology2023 · 제16권 제4호유전성 난청의 진단과 치료나지나, 정진세대한이비인후과학회 부산,울산,경남 지부회 · 임상이비인후과2021 · 제32권 제1호
이 간행물의 다른 논문 (14건)
Sleep Tests in the Non-Contact Era of the COVID-19 Pandemic: Home Sleep Tests Versus In-Laboratory Polysomnography신현우, 윤대위pp. 318-319Treatment of Benign Paroxysmal Positional Vertigo: An Approach Considering Patients’ Convenience심대보pp. 320-321Influence of the Genetic Background on Allergic Rhinitis Models in MiceRoza Khalmuratova, 신현우pp. 322-323A New Era of Intraoperative Neuromonitoring: Beyond the Electromyography Endotracheal Tube During Thyroid Surgery이병주, 신성찬pp. 324-325Recent Advances in the Application of Artificial Intelligence in Otorhinolaryngology-Head and Neck Surgery이승철, 김수환, 김도현, 김규원, Bayu Adhi Tamapp. 326-339
