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The Era of Precision Medicine: Reshaping Usher Syndrome

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참고문헌 (9)

  1. Bonnet C, "Usher syndrome(sensorineural deafness and retinitis pigmentosa) : pathogenesis, molecular diagnosis and therapeutic approaches", Curr Opin Neurol, 25(1), pp.42~49 (2012)
  2. Boughman JA, "Usher syndrome : definition and estimate of prevalence from two high-risk populations", J Chronic Dis, 36(8), pp.595~603 (1983)
  3. 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)
  4. 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]
  5. Eandi CM, "Targeted next generation sequencing in Italian patients with Usher syndrome : phenotype-genotype correlations", Sci Rep, 7(1), pp.15681~ (2017)
  6. 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)
  7. Isgrig K, "Gene therapy restores balance and auditory functions in a mouse model of usher syndrome", Mol Ther, 25(3), pp.780~791 (2017)
  8. 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)
  9. 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)

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