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Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.

作者信息

Bobadilla Joseph L, Farrell Michael H, Farrell Philip M

机构信息

Department of Pediatrics, University of Wisconsin, USA.

出版信息

Adv Pediatr. 2002;49:131-90.

PMID:12214770
Abstract
摘要

相似文献

1
Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.应用囊性纤维化跨膜传导调节因子分子遗传学通过筛查促进囊性纤维化的诊断。
Adv Pediatr. 2002;49:131-90.
2
Carrier screening for cystic fibrosis.囊性纤维化携带者筛查。
Obstet Gynecol Clin North Am. 2010 Mar;37(1):47-59, Table of Contents. doi: 10.1016/j.ogc.2010.02.002.
3
Screening practices for mutations in the CFTR gene ABCC7.囊性纤维化跨膜传导调节因子基因ABCC7突变的筛查方法
Hum Mutat. 2000;15(2):135-49. doi: 10.1002/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H.
4
Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.一对夫妇接受卵胞浆内单精子注射的结果，该男性为囊性纤维化跨膜传导调节因子（CFTR）基因p.[R74W;V201M;D1270N]和p.P841R突变携带者，其配偶为CFTR基因p.F508del突变的杂合子携带者
Fertil Steril. 2008 Nov;90(5):2004.e23-6. doi: 10.1016/j.fertnstert.2008.05.057. Epub 2008 Aug 13.
5
[The type and frequency of mutations in CFTR gene occurrence in patients with cystic fibrosis in Poland--implication of results obtained from genetic counseling and diagnostic screening].[波兰囊性纤维化患者中CFTR基因突变的类型和发生频率——遗传咨询和诊断筛查结果的意义]
Pediatr Pol. 1995 Aug;70(8):627-32.
6
Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.循环胎儿细胞的基因特征分析可实现囊性纤维化的非侵入性产前诊断。
Prenat Diagn. 2006 Oct;26(10):906-16. doi: 10.1002/pd.1524.
7
Optimizing strategies for CFTR molecular testing.优化囊性纤维化跨膜传导调节因子分子检测策略。
J Cyst Fibros. 2011 Mar;10(2):143-4. doi: 10.1016/j.jcf.2010.11.002. Epub 2010 Dec 13.
8
Introduction to molecular cystic fibrosis testing.分子囊性纤维化检测介绍
Clin Lab Sci. 2006 Winter;19(1):24-31.
9
Prenatal screening for cystic fibrosis: past, present and future.囊性纤维化的产前筛查：过去、现在与未来。
Expert Rev Mol Diagn. 2004 Jan;4(1):49-62. doi: 10.1586/14737159.4.1.49.
10
[Genetic counseling in cystic fibrosis].[囊性纤维化的遗传咨询]
Rev Mal Respir. 2000 Aug;17(3 Pt 2):807-11.

引用本文的文献

1
Improving the quality of physician communication with rapid-throughput analysis and report cards.通过快速通量分析和报告卡提高医生沟通质量。
Patient Educ Couns. 2014 Nov;97(2):248-55. doi: 10.1016/j.pec.2014.07.028. Epub 2014 Aug 28.
2
Frequency of high-quality communication behaviors used by primary care providers of heterozygous infants after newborn screening.先证者筛查后初级保健提供者用于杂合子婴儿的高质量沟通行为的频率。
Patient Educ Couns. 2013 Feb;90(2):226-32. doi: 10.1016/j.pec.2012.10.024. Epub 2012 Nov 26.
3
Improving communication between doctors and parents after newborn screening.
改善新生儿筛查后医生与家长之间的沟通。
WMJ. 2011 Oct;110(5):221-7.
4
Newborn screening for cystic fibrosis: the practical implications.新生儿囊性纤维化筛查：实际影响
J R Soc Med. 2004;97 Suppl 44(Suppl 44):57-9.