• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers.

作者信息

Soyaltın Eren, Kasap-Demir Belde, Alparslan Caner, Arslansoyu-Çamlar Seçil, Öncel Elif Perihan, Kırbıyık Özgür, Alaygut Demet, Yavaşcan Önder, Türe Gamze, Mutlubaş Fatma

机构信息

Department of Pediatrics, Division of Nephrology, İzmir Tepecik Training and Research Hospital, İzmir, Turkey.

Department of Pediatrics, Division of Pediatric Nephrology, İzmir Katip Çelebi University, İzmir, Turkey.

出版信息

Pediatr Nephrol. 2018 May;33(5):801-803. doi: 10.1007/s00467-017-3742-0. Epub 2017 Jul 24.

DOI:10.1007/s00467-017-3742-0
PMID:28741273
Abstract
摘要

相似文献

1
Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers.手部X光片能否对患有慢性肾病的儿童做出特殊诊断？答案如下。
Pediatr Nephrol. 2018 May;33(5):801-803. doi: 10.1007/s00467-017-3742-0. Epub 2017 Jul 24.
2
Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Questions.手部X光片能否对患有慢性肾病的儿童做出特殊诊断？问题。
Pediatr Nephrol. 2018 May;33(5):799-800. doi: 10.1007/s00467-017-3740-2. Epub 2017 Jul 12.
3
Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses.萨尔迪诺－梅恩泽综合征：肾单位肾痨、色素性视网膜炎和椎体骨骺呈圆锥形。
J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb.
4
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.梅因策尔-萨尔迪诺综合征是一种由 IFT140 突变引起的纤毛病。
Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.
5
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.IFT144 与 Mainzer-Saldino 综合征中的轻度视网膜色素变性：一种新的关联。
Eur J Med Genet. 2020 Dec;63(12):104073. doi: 10.1016/j.ejmg.2020.104073. Epub 2020 Sep 28.
6
[Mainzer-Saldino syndrome caused by IFT140 gene variation].[由IFT140基因变异引起的迈因泽尔-萨尔迪诺综合征]
Zhonghua Er Ke Za Zhi. 2019 Nov 2;57(11):884-886. doi: 10.3760/cma.j.issn.0578-1310.2019.11.014.
7
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).与家族性青少年肾单位肾痨及手部锥形骨骺相关的莱伯先天性黑矇（萨尔迪诺－梅恩泽尔综合征）
Am J Ophthalmol. 1984 Feb;97(2):233-9. doi: 10.1016/s0002-9394(14)76095-7.
8
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.青少年肾单位肾痨伴视网膜色素变性、小脑共济失调和骨骼异常。
Arch Dis Child. 1976 Oct;51(10):801-3. doi: 10.1136/adc.51.10.801.
9
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.早发性严重视网膜营养不良作为IFT140相关骨骼纤毛病的初始表现。
J AAPOS. 2014 Apr;18(2):203-5. doi: 10.1016/j.jaapos.2013.11.016.
10
Nephronophthisis: a variant.肾痨：一种变体。
J Coll Physicians Surg Pak. 2005 Jun;15(6):368-70.

引用本文的文献

1
Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome.系统利用蛋白质自由能变化对意义未明的变异进行分类：以梅恩泽尔-萨尔迪诺综合征中的IFT140为例。
Front Mol Biosci. 2025 Apr 23;12:1561380. doi: 10.3389/fmolb.2025.1561380. eCollection 2025.
2
IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report.梅恩泽尔-萨尔迪诺综合征中IFT140突变与终末期肾病：一例报告
Cureus. 2024 Feb 9;16(2):e53889. doi: 10.7759/cureus.53889. eCollection 2024 Feb.

本文引用的文献

1
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.IFT-B 成分 IFT172 的缺陷导致人类出现 Jeune 和 Mainzer-Saldino 综合征。
Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.
2
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.梅因策尔-萨尔迪诺综合征是一种由 IFT140 突变引起的纤毛病。
Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.
3
Characterization of mouse IFT complex B.小鼠内转运蛋白复合体B的特性分析
Cell Motil Cytoskeleton. 2009 Aug;66(8):457-68. doi: 10.1002/cm.20346.
4
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur.圆锥肾发育不良：一种具有锥形骨骺、儿童期肾病、色素性视网膜炎及股骨近端异常的综合征。
Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948.
5
[Asphyxiating thoracic dystrophy with familial characteristics].[具有家族特征的窒息性胸廓发育不良]
Arch Fr Pediatr. 1955;12(8):886-91.
6
Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa.
Radiology. 1971 Jan;98(1):39-45. doi: 10.1148/98.1.39.
7
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.
Am J Med. 1970 Oct;49(4):556-62. doi: 10.1016/s0002-9343(70)80051-1.
8
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.
Pediatr Radiol. 1979 Feb 26;8(1):32-8. doi: 10.1007/BF00973675.