• 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

Duty to re-contact: a study of families at risk for Fragile X.

作者信息

Bernard Lynn E, McGillivray Barbara, Van Allen Margot I, Friedman J M, Langlois Sylvie

出版信息

J Genet Couns. 1999 Feb;8(1):3-15. doi: 10.1023/a:1022878402764.

DOI:10.1023/a:1022878402764
PMID:11657178
Abstract
摘要

相似文献

1
Duty to re-contact: a study of families at risk for Fragile X.再次联系的责任：一项关于脆性X综合征高危家庭的研究。
J Genet Couns. 1999 Feb;8(1):3-15. doi: 10.1023/a:1022878402764.
2
A fragile case for screening?一个关于筛查的棘手案例？
New Sci. 1993;140(1905-1906):10-1.
3
Predictive and carrier testing of children: professional dilemmas for clinical geneticists.儿童的预测性检测和携带者检测：临床遗传学家面临的专业困境
Eur J Genet Soc. 1996;2(2):28-38. doi: 10.1179/hrge.2.2.u5741641357jtu7h.
4
Question mark hangs over fragile X test in newborns.新生儿脆性X检测存在疑问。
New Sci. 1995 Jul 8;147(1985):10.
5
Re-contact to advise of testing available to detect high risk for carcinoma: response to letters sent to persons initially ascertained for other genetic reasons.
Am J Hum Genet. 1997 Oct;61(4):A390.
6
The duty to re-contact for newly appreciated risk factors: fragile X premutation.
J Clin Ethics. 2006 Spring;17(1):46-52.
7
Torts and the double helix: malpractice liability for failure to warn of genetic risks.侵权行为与双螺旋结构：未就基因风险进行警示的医疗过失责任
Houst Law Rev. 1992 Spring;29(1):149-84.
8
The duty to recontact: attitudes of genetics service providers.再次联系的责任：遗传学服务提供者的态度
Am J Hum Genet. 1997 Oct;61(4):A57.
9
Staying informed and recontacting patients about research advances: a study of patient attitudes.
Am J Hum Genet. 1996 Oct;59(4):A335.
10
The duty to recontact: benefit and harm.再次联系的义务：益处与危害。
Am J Hum Genet. 1999 Oct;65(4):1201-4. doi: 10.1086/302587.

引用本文的文献

1
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.是否重新联系？欧洲临床遗传中心当前实践情况调查。
Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.
2
Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom.临床实践中的再次接触：英国临床遗传学服务调查
Genet Med. 2016 Sep;18(9):876-81. doi: 10.1038/gim.2015.194. Epub 2016 Feb 18.
3
Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

本文引用的文献

1
DNA testing for fragile X syndrome: implications for parents and family.脆性X综合征的DNA检测：对父母及家庭的影响
J Med Genet. 1997 Nov;34(11):907-11. doi: 10.1136/jmg.34.11.907.
2
Prevalence of fragile X syndrome.
Am J Med Genet. 1996 Jul 12;64(1):196-7. doi: 10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G.
3
Molecular fragile X screening in normal populations.
Am J Med Genet. 1996 Jul 12;64(1):181-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<181::AID-AJMG31>3.0.CO;2-H.
4
鉴于新的基因技术，是否有再次联系的义务？文献系统综述。
Genet Med. 2015 Aug;17(8):668-78. doi: 10.1038/gim.2014.173. Epub 2014 Dec 11.
4
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.
J Genet Couns. 2008 Jun;17(3):261-73. doi: 10.1007/s10897-007-9145-9. Epub 2008 Feb 12.
5
Patient preferences regarding recontact by cancer genetics clinicians.癌症遗传学临床医生再次联系患者的偏好。
Fam Cancer. 2007;6(3):265-73. doi: 10.1007/s10689-007-9117-0. Epub 2007 Feb 17.
Frequency and stability of the fragile X premutation.脆性X前突变的频率与稳定性
Hum Mol Genet. 1994 Mar;3(3):393-8. doi: 10.1093/hmg/3.3.393.
5
Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.瑞典某郡智障男孩中脆性X综合征的患病率。
Am J Med Genet. 1986 Jan-Feb;23(1-2):581-7. doi: 10.1002/ajmg.1320230152.
6
Fragile X genotype characterized by an unstable region of DNA.脆性X基因型的特征是DNA的不稳定区域。
Science. 1991 May 24;252(5009):1179-81. doi: 10.1126/science.252.5009.1179.
7
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.脆性X综合征中550个碱基对DNA片段的不稳定性及异常甲基化
Science. 1991 May 24;252(5009):1097-102. doi: 10.1126/science.252.5009.1097.
8
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.脆性X位点处CGG重复序列的变异导致遗传不稳定性：谢尔曼悖论的解析。
Cell. 1991 Dec 20;67(6):1047-58. doi: 10.1016/0092-8674(91)90283-5.
9
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.鉴定出一个含有CGG重复序列的基因（FMR-1），该基因与脆性X综合征中表现出长度变异的断点簇区域一致。
Cell. 1991 May 31;65(5):905-14. doi: 10.1016/0092-8674(91)90397-h.
10
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.将脆性X染色体上的DNA不稳定性定位到一个三核苷酸重复序列p(CCG)n。
Science. 1991 Jun 21;252(5013):1711-4. doi: 10.1126/science.1675488.