Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making.
作者信息
Archibald Alison D, McClaren Belinda J
机构信息
Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia,
出版信息
J Community Genet. 2012 Jan;3(1):47-54. doi: 10.1007/s12687-011-0067-8. Epub 2011 Nov 17.
Abstract
摘要
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本文引用的文献
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Embodied Knowledge and Making Sense of Prenatal Diagnosis.具身知识与理解产前诊断
J Genet Couns. 1999 Oct;8(5):255-74. doi: 10.1023/A:1022901131305.
2
Talking about disability in prenatal genetic counseling: a report of two interactive workshops.产前遗传咨询中的残疾话题：两场互动研讨会报告
J Genet Couns. 2012 Feb;21(1):17-23. doi: 10.1007/s10897-011-9410-9. Epub 2011 Oct 25.
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Carrier testing for severe childhood recessive diseases by next-generation sequencing.下一代测序技术在严重儿童隐性疾病中的携带者检测
Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.
4
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.脆性 X 1 号前突变携带者在美国进行常规人群携带者筛查中的频率：对脆性 X 综合征、脆性 X 相关震颤共济失调综合征和脆性 X 相关原发性卵巢功能不全的流行率的了解。
Genet Med. 2011 Jan;13(1):39-45. doi: 10.1097/GIM.0b013e3181fa9fad.
5
A systematic review of population screening for fragile X syndrome.脆性 X 综合征的人群筛查系统评价。
Genet Med. 2010 Jul;12(7):396-410. doi: 10.1097/GIM.0b013e3181e38fb6.
6
Population-based genetic screening for cystic fibrosis: attitudes and outcomes.基于人群的囊性纤维化基因筛查：态度与结果
Public Health Genomics. 2010;13(7-8):449-56. doi: 10.1159/000276544. Epub 2010 Jan 14.
7
Neonatal screening for treatable and untreatable disorders: prospective parents' opinions.新生儿可治疗和不可治疗疾病的筛查：准父母的意见。
Pediatrics. 2010 Jan;125(1):e99-106. doi: 10.1542/peds.2009-0269. Epub 2009 Dec 21.
8
"It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women.“这是我需要考虑的事情”：在非孕妇人群中进行脆性 X 综合征携带者筛查的决策。
Am J Med Genet A. 2009 Dec;149A(12):2731-8. doi: 10.1002/ajmg.a.33122.
9
Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience.维多利亚州基于人群的囊性纤维化携带者筛查：头三年的经验。
Aust N Z J Obstet Gynaecol. 2009 Oct;49(5):484-9. doi: 10.1111/j.1479-828X.2009.01045.x.
10
Cystic fibrosis.囊性纤维化
Lancet. 2009 May 30;373(9678):1891-904. doi: 10.1016/S0140-6736(09)60327-5. Epub 2009 May 4.
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