• 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

相似文献

1
Antimongoloid as a pejorative term.反蒙古人种的（作为一个贬义词）。
Croat Med J. 2014 Feb;55(1):77-8. doi: 10.3325/cmj.2014.55.77.
2
Why should medical editors CARE about case reports?医学编辑为何要关注病例报告？
Croat Med J. 2013 Dec;54(6):507-9. doi: 10.3325/cmj.2013.54.507.
3
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.一例因KRAS基因新发种系突变导致努南综合征并发肥厚型心肌病的致死病例：病例报告
Croat Med J. 2013 Dec;54(6):574-8. doi: 10.3325/cmj.2013.54.574.
4
[RIT1: a novel gene associated with Noonan syndrome].[RIT1：一种与努南综合征相关的新基因]
Rev Neurol. 2016 Oct 16;63(8):358-362.
5
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.努南综合征和类努南综合征患者的PTPN11和KRAS基因分析
Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192.
6
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation.一名40岁患有努南综合征的男性因KRAS种系突变导致双侧巨大冠状动脉瘤。
Int J Cardiol. 2014 May 15;173(3):e63-6. doi: 10.1016/j.ijcard.2014.03.135. Epub 2014 Mar 21.
7
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.RASopathy 患者的非折返性房性心动过速与肥厚型心肌病无关。
Am J Med Genet A. 2018 Aug;176(8):1711-1722. doi: 10.1002/ajmg.a.38854. Epub 2018 Jul 28.
8
Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.患者同时患有努南综合征和系统性红斑狼疮，存在 KRAS 基因突变。
Clin Exp Rheumatol. 2010 Jul-Aug;28(4):556-7. Epub 2010 Aug 30.
9
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.MEK抑制剂可逆转RIT1突变型努南综合征中的肥厚型心肌病：首次在与RIT1突变相关的努南综合征中逆转了肥厚型心肌病。
Am J Med Genet A. 2019 Aug;179(8):1408-1409. doi: 10.1002/ajmg.a.40456.
10
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.第二例全球范围内携带RAF1 S259Y新突变且患有新生儿肥厚型心肌病的努南综合征严重临床表型。
Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041.

本文引用的文献

1
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.与RRM2B基因新突变相关的婴儿期周围神经病、耳聋和近端肾小管病：病例报告
Croat Med J. 2013 Dec;54(6):579-84. doi: 10.3325/cmj.2013.54.579.
2
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.一例因KRAS基因新发种系突变导致努南综合征并发肥厚型心肌病的致死病例：病例报告
Croat Med J. 2013 Dec;54(6):574-8. doi: 10.3325/cmj.2013.54.574.
3
Post-vaccine glomerulonephritis in an infant with hereditary C2 complement deficiency: case study.一名患有遗传性C2补体缺乏症婴儿的疫苗接种后肾小球肾炎：病例研究
Croat Med J. 2013 Dec;54(6):569-73. doi: 10.3325/cmj.2013.54.569.
4
Why should medical editors CARE about case reports?医学编辑为何要关注病例报告？
Croat Med J. 2013 Dec;54(6):507-9. doi: 10.3325/cmj.2013.54.507.
5
Massive hemoptysis and complete unilateral lung collapse in pregnancy due to pulmonary tuberculosis with good maternal and fetal outcome: a case report.妊娠合并肺结核导致大量咯血及单侧肺完全萎陷，母婴结局良好：一例病例报告
BMC Res Notes. 2013 Aug 22;6:335. doi: 10.1186/1756-0500-6-335.
6
Full-term abdominal extrauterine pregnancy complicated by post-operative ascites with successful outcome: a case report.足月腹腔外妊娠合并术后腹水且结局良好：一例病例报告
J Med Case Rep. 2013 Jan 9;7:10. doi: 10.1186/1752-1947-7-10.
7
Full recovery of a 13-year-old boy with pediatric Ramsay Hunt syndrome using a shorter course of aciclovir and steroid at lower doses: a case report.一名13岁小儿拉姆齐·亨特综合征男孩采用更短疗程的低剂量阿昔洛韦和类固醇治疗实现完全康复：病例报告
J Med Case Rep. 2011 Aug 15;5:376. doi: 10.1186/1752-1947-5-376.
8
Fifty years of evolution of the term Down's syndrome.
Lancet. 2011 Jul 30;378(9789):402. doi: 10.1016/S0140-6736(11)61212-9.
9
Mongolism.
Am J Hum Genet. 1961 Dec;13(4):426.

Antimongoloid as a pejorative term.

作者信息

Masukume Gwinyai

机构信息

Gwinyai Masukume, Division of Epidemiology and Biostatistics, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa,

出版信息

Croat Med J. 2014 Feb;55(1):77-8. doi: 10.3325/cmj.2014.55.77.

DOI:10.3325/cmj.2014.55.77
PMID:24577832
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3944422/
Abstract
摘要