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Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification.

作者信息

Williams C, Williamson R, Coutelle C, Loeffler F, Smith J, Ivinson A

出版信息

Lancet. 1988 Jul 9;2(8602):102-3. doi: 10.1016/s0140-6736(88)90031-1.

DOI:10.1016/s0140-6736(88)90031-1
PMID:2898671
Abstract
摘要

相似文献

1
Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification.
Lancet. 1988 Jul 9;2(8602):102-3. doi: 10.1016/s0140-6736(88)90031-1.
2
Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis.用于囊性纤维化产前诊断和携带者评估的扩增不应性突变系统
Lancet. 1989;2(8678-8679):1481-3. doi: 10.1016/s0140-6736(89)92931-0.
3
First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing.通过直接基因探测进行孕早期囊性纤维化的产前诊断。
Lancet. 1989 Oct 21;2(8669):972-3. doi: 10.1016/s0140-6736(89)90974-4.
4
Detection of fetal DNA in trans-cervical swabs from first trimester pregnancy by gene amplification: a new route to prenatal diagnosis?通过基因扩增检测孕早期经宫颈拭子中的胎儿DNA:产前诊断的新途径?
Br J Obstet Gynaecol. 1993 Apr;100(4):400. doi: 10.1111/j.1471-0528.1993.tb12998.x.
5
Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism.通过DNA扩增检测KM-19多态性进行囊性纤维化的产前诊断。
Lancet. 1988 Jul 9;2(8602):102. doi: 10.1016/s0140-6736(88)90030-x.
6
Prenatal diagnosis of cystic fibrosis.囊性纤维化的产前诊断。
J Clin Chem Clin Biochem. 1989 Mar;27(3):117-22.
7
CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?孕早期干血样中CFTR基因DeltaF508突变检测:一种囊性纤维化可能的常规产前筛查策略?
Fetal Diagn Ther. 2007;22(1):41-4. doi: 10.1159/000095842. Epub 2006 Sep 22.
8
Cystic fibrosis carrier testing in early pregnancy by general practitioners.全科医生在孕早期进行囊性纤维化携带者检测。
BMJ. 1993 Jun 12;306(6892):1580-3. doi: 10.1136/bmj.306.6892.1580.
9
First-trimester fetal screening of cystic fibrosis in low-risk population.
Lancet. 1993 Sep 4;342(8871):624. doi: 10.1016/0140-6736(93)91456-v.
10
[Diagnosis of cystic fibrosis by DNA studies in the first trimester of pregnancy].[孕期头三个月通过DNA研究诊断囊性纤维化]
Orv Hetil. 1987 Dec 6;128(49):2577-9.

引用本文的文献

1
Prenatal diagnosis of common genetic disorders.常见遗传疾病的产前诊断
BMJ. 1988;297(6647):502-6. doi: 10.1136/bmj.297.6647.502.
2
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).DNA中任何点突变的分析。扩增阻滞突变系统(ARMS)。
Nucleic Acids Res. 1989 Apr 11;17(7):2503-16. doi: 10.1093/nar/17.7.2503.
3
Risks of fetal cystic fibrosis based on linkage disequilibrium data.
Hum Genet. 1989 Aug;83(1):52-4. doi: 10.1007/BF00274147.
4
Molecular genetics in the National Health Service in Britain.英国国民医疗服务体系中的分子遗传学
J Med Genet. 1989 Apr;26(4):219-25. doi: 10.1136/jmg.26.4.219.
5
Preimplantation diagnosis with the polymerase chain reaction.聚合酶链反应植入前诊断
BMJ. 1989 Jul 1;299(6690):3. doi: 10.1136/bmj.299.6690.3.
6
The polymerase chain reaction: an improved method for the analysis of nucleic acids.聚合酶链反应:一种用于核酸分析的改进方法。
Hum Genet. 1989 Aug;83(1):1-15. doi: 10.1007/BF00274139.
7
A consortium approach to molecular genetic services. Scottish Molecular Genetics Consortium.分子遗传学服务的联盟模式。苏格兰分子遗传学联盟。
J Med Genet. 1990 Jan;27(1):8-13. doi: 10.1136/jmg.27.1.8.
8
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).欧洲主要囊性纤维化(CF)突变及其相关单倍型的分布梯度。欧洲CF遗传学工作组(EWGCFG)。
Hum Genet. 1990 Sep;85(4):436-45. doi: 10.1007/BF02428304.
9
Application of the polymerase chain reaction to the diagnosis of human genetic disease.聚合酶链反应在人类遗传病诊断中的应用。
Hum Genet. 1990 Jun;85(1):1-8. doi: 10.1007/BF00276316.
10
The cystic fibrosis defect approached from different angles--new perspectives on the gene, the chloride channel, diagnosis and therapy.从不同角度探讨囊性纤维化缺陷——关于基因、氯离子通道、诊断与治疗的新观点
Eur J Pediatr. 1990 Jul;149(10):670-7. doi: 10.1007/BF01959519.