• 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

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.

作者信息

Blaauwgeers Maaike W, van Asten Ivar, Kruip Marieke J H A, Beckers Erik A M, Coppens Michiel, Eikenboom Jeroen, van Galen Karin P M, Huisman Albert, Korporaal Suzanne J A, Ploos van Amstel Hans Kristian, Tamminga Rienk Y J, Urbanus Rolf T, Schutgens Roger E G

机构信息

Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

Van Creveld Laboratory, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

出版信息

Am J Hematol. 2020 Jan;95(1):E26-E28. doi: 10.1002/ajh.25667. Epub 2019 Nov 13.

DOI:10.1002/ajh.25667
PMID:31659778
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6916199/
Abstract
摘要

相似文献

1
The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.基因检测在诊断疑似先天性血小板缺陷患者中的局限性。
Am J Hematol. 2020 Jan;95(1):E26-E28. doi: 10.1002/ajh.25667. Epub 2019 Nov 13.
2
[Laboratory diagnosis of congenital platelet function disorders].[先天性血小板功能障碍的实验室诊断]
Acta Haematol Pol. 1993;24(2 Suppl 1):48-57.
3
[Congenital and acquired platelet function disorders].
Hamostaseologie. 2003 Nov;23(4):170-80.
4
Platelet function analyzer (PFA-100): a tool to quantify congenital or acquired platelet dysfunction.血小板功能分析仪（PFA - 100）：一种量化先天性或获得性血小板功能障碍的工具。
J Lab Clin Med. 2001 Sep;138(3):152-63. doi: 10.1067/mlc.2001.117406.
5
Congenital platelet disorders.
Hematol Oncol Clin North Am. 2007 Aug;21(4):663-84, vi. doi: 10.1016/j.hoc.2007.06.006.
6
Understanding congenital platelet disorders.
Clin Adv Hematol Oncol. 2014 Jul;12(7):461-3.
7
Congenital Disorders of Platelet Function and Number.
Pediatr Clin North Am. 2018 Jun;65(3):561-578. doi: 10.1016/j.pcl.2018.02.009.
8
[Laboratory diagnosis of functional impairment of blood platelets. I. Congenital thrombocytopathies].
Vnitr Lek. 1974 Jan;20(1):60-9.
9
Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment.先天性血小板疾病：机制、诊断评估及治疗概述
Haemophilia. 2006 Jul;12 Suppl 3:128-36. doi: 10.1111/j.1365-2516.2006.01270.x.
10
Congenital disorders of platelet function.血小板功能先天性疾病
Clin Obstet Gynecol. 1999 Jun;42(2):390-405. doi: 10.1097/00003081-199906000-00023.

引用本文的文献

1
Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.用于出血、血小板和血栓形成疾病的多基因检测板的实施与临床应用
J Thromb Haemost. 2025 May 8. doi: 10.1016/j.jtha.2025.04.026.
2
Functional characterization of a nanobody-based glycoprotein VI-specific platelet agonist.一种基于纳米抗体的糖蛋白VI特异性血小板激动剂的功能表征
Res Pract Thromb Haemost. 2024 Oct 3;8(7):102582. doi: 10.1016/j.rpth.2024.102582. eCollection 2024 Oct.
3
A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders.双特异性抗体方法可用于潜在的遗传性出血性疾病的预防性治疗。
Nat Cardiovasc Res. 2024 Feb;3(2):166-185. doi: 10.1038/s44161-023-00418-4. Epub 2024 Feb 8.
4
SYMPHONY consortium: Orchestrating personalized treatment for patients with bleeding disorders.交响乐联盟：为出血性疾病患者精心安排个性化治疗。
J Thromb Haemost. 2022 Jun 2;20(9):2001-11. doi: 10.1111/jth.15778.
5
Major differences in clinical presentation, diagnosis and management of men and women with autosomal inherited bleeding disorders.常染色体遗传性出血性疾病男性和女性患者在临床表现、诊断及治疗方面的主要差异。
EClinicalMedicine. 2021 Jan 29;32:100726. doi: 10.1016/j.eclinm.2021.100726. eCollection 2021 Feb.

本文引用的文献

1
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.对 2396 名出血、血栓形成和血小板疾病患者进行诊断性高通量测序。
Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
2
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.将高通量测序引入遗传性血小板疾病的主流遗传诊断实践中。
Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5.
3
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.外显子组测序在儿童遗传性血小板疾病分子诊断中的应用及局限性
Am J Hematol. 2018 Jan;93(1):8-16. doi: 10.1002/ajh.24917. Epub 2017 Oct 20.
4
Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.血小板颗粒疾病基因组学时代的曙光：增进认识、诊断与管理
Br J Haematol. 2017 Mar;176(5):705-720. doi: 10.1111/bjh.14471. Epub 2016 Dec 16.
5
Inherited platelet disorders: toward DNA-based diagnosis.遗传性血小板疾病：迈向基于DNA的诊断
Blood. 2016 Jun 9;127(23):2814-23. doi: 10.1182/blood-2016-03-378588. Epub 2016 Apr 19.
6
Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders.血小板功能检测在遗传性出血性疾病诊断中的现状与未来展望
Br J Haematol. 2015 Jul;170(2):150-61. doi: 10.1111/bjh.13405. Epub 2015 Apr 28.
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
8
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.伊比利亚半岛遗传性血小板疾病的功能和分子特征：一项合作研究的结果。
Orphanet J Rare Dis. 2014 Dec 24;9:213. doi: 10.1186/s13023-014-0213-6.
9
Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.遗传性血小板功能障碍的诊断：国际血栓与止血学会科学与标准化委员会的指南
J Thromb Haemost. 2015 Feb;13(2):314-22. doi: 10.1111/jth.12792. Epub 2015 Jan 22.
10
What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?基因检测在疑似血小板功能障碍患者的检查中起什么作用？
Br J Haematol. 2014 Apr;165(2):193-203. doi: 10.1111/bjh.12751. Epub 2014 Jan 30.