• 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

A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

作者信息

Brunelli Luca, Mao Rong, Jenkins Sabrina Malone, Bleyl Steven B, Dames Shale A, Miller Christine E, Ostrander Betsy, Tvrdik Tatiana, Andrews Seth, Flores Josue, Patel Shrena, Gudgeon James M, Schaefer Susan

机构信息

University of Utah School of Medicine, Salt Lake City, Utah.

ARUP Laboratories, Salt Lake City, Utah.

出版信息

Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.

DOI:10.1002/ajmg.a.38259
PMID:28497657
Abstract
摘要

相似文献

1
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Am J Med Genet A. 2017 Jul;173(7):1979-1982. doi: 10.1002/ajmg.a.38259. Epub 2017 May 12.
2
Clinical Next Generation Sequencing for Precision Medicine in Cancer.用于癌症精准医疗的临床下一代测序技术
Curr Genomics. 2015 Aug;16(4):253-63. doi: 10.2174/1389202915666150511205313.
3
Newborn Screening in the Era of Precision Medicine.精准医学时代的新生儿筛查
Adv Exp Med Biol. 2017;1005:47-61. doi: 10.1007/978-981-10-5717-5_3.
4
Next-generation sequencing-based clinical sequencing: toward precision medicine in solid tumors.基于新一代测序的临床测序:迈向实体瘤的精准医学。
Int J Clin Oncol. 2019 Feb;24(2):115-122. doi: 10.1007/s10147-018-1375-3. Epub 2018 Dec 4.
5
Rapid whole genome sequencing and precision neonatology.快速全基因组测序与精准新生儿学。
Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29.
6
Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.临床药物基因组学检测在下一代测序时代:精准医学的挑战和机遇。
Expert Rev Mol Diagn. 2018 May;18(5):411-421. doi: 10.1080/14737159.2018.1461561. Epub 2018 Apr 23.
7
Targeted next generation sequencing as a tool for precision medicine.靶向下一代测序作为精准医学的工具。
BMC Med Genomics. 2019 Jun 3;12(1):81. doi: 10.1186/s12920-019-0527-2.
8
Clinical target sequencing for precision medicine of breast cancer.临床靶区测序在乳腺癌精准医学中的应用。
Int J Clin Oncol. 2019 Feb;24(2):131-140. doi: 10.1007/s10147-018-1373-5. Epub 2019 Jan 2.
9
Toward the use of precision medicine for the treatment of head and neck squamous cell carcinoma.迈向精准医学在头颈部鳞状细胞癌治疗中的应用。
Oncotarget. 2017 Jan 10;8(2):2141-2152. doi: 10.18632/oncotarget.13798.
10
[Precision medicine in hematological malignancies].
Rinsho Ketsueki. 2019;60(9):1386-1395. doi: 10.11406/rinketsu.60.1386.

引用本文的文献

1
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.开源人工智能系统助力危重症婴儿孟德尔疾病的诊断
Children (Basel). 2023 Jun 1;10(6):991. doi: 10.3390/children10060991.
2
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.先天性肌营养不良症的临床与病理特征 35 个基因-全面综述。
Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730.
3
Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.
美国危重新生儿公平获取基因组测序的伦理考量
Int J Neonatal Screen. 2022 Mar 21;8(1):22. doi: 10.3390/ijns8010022.
4
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.评估利用不断变化的技术在儿科中进行快速下一代测序。
Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3.
5
A Variant of Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.一种与博林-奥皮茨综合征非典型表型相关的变异:病例报告及文献综述。
Front Pediatr. 2021 Aug 30;9:678615. doi: 10.3389/fped.2021.678615. eCollection 2021.
6
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.靶向基因 panel 测序在急性病婴儿快速诊断中的应用。
Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13.
7
The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.在一名患有博林格-奥皮茨综合征的土耳其男孩身上发现了p.Gly646Trpfs*12突变。
Clin Case Rep. 2018 Jun 10;6(8):1452-1456. doi: 10.1002/ccr3.1603. eCollection 2018 Aug.