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非综合征型感音神经性聋相关基因研究进展 被引量:3

Reseach progress in nonsyndromic sensorineural hearing loss associated genes
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出处 《中华耳鼻咽喉头颈外科杂志》 CAS CSCD 北大核心 2005年第8期633-637,共5页 Chinese Journal of Otorhinolaryngology Head and Neck Surgery
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  • 1Mehl AL, Thomson V. The Colorado newborn heating screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics, 2002,109 : E7.
  • 2王秋菊,杨伟炎,顾瑞.应用分子遗传学研究手段探讨听功能的分子遗传机制[J].中华耳鼻咽喉科杂志,2003,38(1):68-71. 被引量:3
  • 3Rehm HL. Genetics and the genome project. Ear Hear,2003,24:270-274.
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  • 7Busch-Nentwich E, Sollner C, Roehl H, et al. The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebratish. Development, 2004,131 : 943-951.
  • 8Zheng QY, Yan D, Ouyang XM, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet, 2005, 14:103-111.
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  • 1冯晓,阮标.非综合征性耳聋研究进展[J].国外医学(耳鼻咽喉科学分册),2005,29(4):231-233. 被引量:1
  • 2于飞,戴朴,韩东一.GJB2基因突变及语前遗传性非综合征性耳聋[J].国外医学(耳鼻咽喉科学分册),2005,29(6):359-361. 被引量:24
  • 3T. P. Hutchin*,G. A. Cortopassi. Mitochondrial defects and hearing loss[J] 2000,Cellular and Molecular Life Sciences(13-14):1927~1937
  • 4Bolz H,von Brederlow B,Ramírez A. Mutation of CDH23,encoding a new member of the cadherin gene family,causes Usher syndrome type 1D[J].{H}Nature genetics,2001,(01):108-112.
  • 5Astuto LM,Bork JM,Weston MD. CDH23 mutation and phenotype heterogeneity:a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness[J].{H}American Journal of Hunan Genetics,2002,(02):262-275.
  • 6Schultz JM,Bhatti R,Madeo AC. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes[J].{H}Journal of Medical Genetics,2011,(11):767-775.
  • 7Bork JM,Peters LM,Riazuddin S. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23[J].{H}American Journal of Hunan Genetics,2001,(01):26-37.
  • 8Ahmed ZM,Goodyear R,Riazuddin S. The tip-link antigen,a protein associated with the transduction complex of sensory hair cells,is protocadherin-15[J].{H}Journal of Neuroscience,2006,(26):7022-7034.
  • 9Ahmed ZM,Riazuddin S,Bernstein SL. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F[J].{H}American Journal of Hunan Genetics,2001,(01):25-34.
  • 10Schwander M,Xiong W,Tokita J. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells[J].{H}Proceedings of the National Academy of Sciences(USA),2009,(13):5252-5257.doi:10.1073/pnas.0900691106.

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