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家族性遗传性间质性肾炎 被引量:4

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作者 徐峰 曾彩虹
出处 《肾脏病与透析肾移植杂志》 CAS CSCD 北大核心 2009年第2期167-172,共6页 Chinese Journal of Nephrology,Dialysis & Transplantation
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同被引文献40

  • 1杨毅华,倪伟锋,陈慎仁,杨贤明.多指(趾)-肥胖-肾-眼综合征2例并文献复习分析[J].中国实用内科杂志:临床前沿版,2006,26(6):931-933. 被引量:5
  • 2陈克春,杨洋,廖世煌,胡建斌,陈斌,林婴,杨正林.不典型家族性Bardet-Biedl综合征报道[J].中国实用眼科杂志,2007,25(10):1153-1153. 被引量:2
  • 3Eckardt KU, Alper SL, Antignac C, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int, 2015, 88 (4): 676-683.
  • 4Fanconi G, Hanhart E, von Albertini A, et al. Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney). Helv Paediatr Acta, 1951 ,6( I) : 1-49.
  • 5Wolf MT.Nephronophthisis and related syndromes. CUff Opin Pediatr, 2015,27(2) :201-21l.
  • 6Gee HY, Otto EA, Hurd TW, et al. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.Kidney Int,2014,85(4) :880-887.
  • 7Mergen M, Engel C, Muller B, et al. The nephronophthisis gene product NPHP2/1nversin interacts with Aurora A and interferes with HDAC6-mediatedcilia disassembly.Nephrol Dial Transplant, 2013,28 (11) :2744-2753.
  • 8Hildebrandt F, Attanasio M, Otto E. Nephronophthisis . disease mechanisms of a ciliopathy.J Am Soc Nephrol,2009 ,20( 1) :23-35.
  • 9Leightner AC, Hommerding C], Peng Y, et al. The Meckel syndrome protein meckelin ( TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Hum Mol Genet,2013 ,22( 10) : 2024-2040.
  • 10Davis EE,Zhang Q,Liu Q,et al.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet, 2011 ,43 (3) : 189-196.

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