As a result of recent advances in molecular genetics, carrier testing for cystic fibrosis (CF) is now available as a clinical assay in a limited number of laboratories. Because neither the gene nor the mutation for this disorder has yet been defined, the analysis relies on an indirect ...
Cystic fibrosis (CF) is a multisystem disease that affects the lungs, pancreas, gastrointestinal tract, and reproductive system. Symptoms of cystic fibrosis can vary among individuals and most frequently include lower airway inflammation and chronic infections that can progress to end-stage lung disease...
Sosnay PR et al.(2013) Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Nat Genet 45:1160–1167. 仅供科研使用,不可用于诊断目的。 Cookie设置 我们及我们的关联方等通过运用Cookie等技术来为您提供您感兴趣的网站定制内容、识...
(1996). Adolescents' attitude towards carrier testing for cystic fibrosis. European journal of human genetics: EJHG,4(6), 305.Melancon, MJ, Braekeleer, M (1996) Adolescents' attitude towards carrier testing for cystic fibrosis. Eur J Hum Genet 4: pp. 305-306...
testing for carriers of 98 CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations among 364 890 referred individuals with no family history of CF.RESULTS:One in 38 individuals carried one of the 98 CFTR mutations included in this panel....
Cystic Fibrosis (CF) is the most common autosomic recessive disorder in the caucasians with a frequency of 1:2500-3000 healthy newborns and a carrier frequency of 1:25-1.30. The disorder is caused by more than 900 mutations of the Cystic Fibrosis Transmembrane regulator mapping on the chromosom...
The combination of exceptional sound and picture quality with near-instantaneous frame addressability has transformed the medium of interactive video, i.e. the notion of communicating with a video programme. Any good system can be used by the most technophobic, but choosing one is rather less ...
CYSTIC FIBROSIS: EVIDENCE OF RELATIONSHIP BETWEEN SEX OF THE CARRIER AND SEX RATIO OF ITS OFFSPRINGPediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use ...
Carrier screening for cystic fibrosis (CF) has been available since the early 1990s, yet there are few programs, and none funded as part of a national health care strategy. The aim of this paper is to provide a description of carrier screening for CF and examine the progress that has been...
The introduction of national carrier screening for cystic fibrosis should be considered, as it is likely to reduce CF incidence at an acceptable (potentially negative) cost. 展开 关键词: Cystic fibrosis Australia Screening Cost-effectiveness Economic evaluation ...