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Pendred综合征 被引量:3

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作者 王轶 曹克利
出处 《听力学及言语疾病杂志》 CAS CSCD 2003年第4期313-314,共2页 Journal of Audiology and Speech Pathology
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参考文献12

  • 1Trevino OG, Arseven OK, Ceballos C J, et al. Clinical and molecular analysis of three Mexican families with Pendred' s syndrome[ J]. Euro J Endocrinol, 2001,144:585.
  • 2Vaidya B, Coffey R, Coyle B, et al. Concurrence of Pendred syndrome,autoimmune thyroidifis and simple goiter in one family[J] .J Clin Endocrinol Metab, 1999,84:2 736.
  • 3Abe S, Usami S, Hoover DM, et al. Fluctuating seneorineuml hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene[J].Am J Med Genet, 1999,82:322.
  • 4Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome[J]. Clin Radiol, 1998,53:268.
  • 5Bradley DJ, Towle HC, Young WSm. Alpha and beta thyroid hormone receptor(TR) gene expression during auditory neurogenesis: evidence for Trisoform- specific transcriptional regulation in vivo[ J]. Proc Natl Acad Sci USA, 1994,91:439.
  • 6Cremers CWRJ, Bolder C, Admimal RJC, et al. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrone[J]. Arch Otorhinolaryngol Head Neck Surgery, 1998,124:501.
  • 7Kabakkaya Y, Bakan E, Yigitoglu MR, et al. Pendred' s syndrome[J].Ann Otol Rhinol Laryngol, 1993,102:285.
  • 8Reardon W, Coffey R, Chowdhury T, et al. Prevalance, age of onset, and natural history of thyroid disease in Pendred syndrome[J].J Med Genet, 1999,36:595.
  • 9Gausden E, Ann our JA, Coyle B, et al. Thyroid peroxidase: evidence for disease gene exclution in Pendred's syndrome[J]. Clin Endocrinol,1996,44:441.
  • 10Reardon W,Coffey R,Pembrey ME, et al.Pitsfalls in practice:diagnosis and misdiagnosis in Pendred syndrome[J] .J Audiol Med, 1997,6:1.

同被引文献53

  • 1杨淑芝,杨伟炎,袁慧军.Waardenburg综合征研究现状[J].临床耳鼻咽喉科杂志,2005,19(19):910-912. 被引量:9
  • 2张迪,路虹,徐鸥,吕哲,张颖,王文利.磁共振内耳水成像在大前庭水管综合征诊断中的应用[J].临床耳鼻咽喉科杂志,2006,20(1):9-10. 被引量:7
  • 3刘学忠,欧阳小梅,Denise Yan,袁永一,袁慧军.中国人群遗传性耳聋研究进展[J].中华耳科学杂志,2006,4(2):81-89. 被引量:85
  • 4袁永一,戴朴,黄德亮,朱秀辉,朱庆文,康东洋,刘丽贤,滕国春.内蒙古赤峰市聋校聋儿SLC26A4基因分析[J].中国耳鼻咽喉头颈外科,2007,14(5):251-256. 被引量:20
  • 5Reardon W, Coffey R, Pembrey ME, e t al. Pits falls in practice: diagnosis and misdiagnosis in Pendred syndrome [J]. J AudiolMed, 1997, 6:1.
  • 6Sheffield VC, Kraiem Z, Beck JC, et al . Pendred syndrome mapsto chromosome 7q21 -- 34 and is caused by an intrinsic defect in thyroid iodine organification[J]. Nat Genet, 1996,12:424.
  • 7Coyle T, Coffey R, Armour JAL, et al . Pendred syndrome (goiterand sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4[J]. Nat Genet, 1996,12:421.
  • 8Everett L, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)[J]. NatGenet,1997,17:411.
  • 9Coucke P, Van Camp G, DemirhanO, et al . The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7 --eM region on chromosome 7q [J]. Genomics, 1997, 40:48.
  • 10Bizhanova A, Kopp P. Genetics and phenomics of Pendred syn- drome[J]. Molecular and Cellular Endocrinology, 2010,322 : 83.

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