Objective: To determine the frequency of cystic fibrosis (CF) carriers among sperm donors in Spain studied through a complete analysis of the CFTR gene and to compare the results with those that would have been obtained by the 4 genotyping panels of the CFTR gene most commonly used as a ...
Cystic fibrosis newborn screening and detection of carriers. A decision to introduce nationwide cystic fibrosis newborn screening in Great Britain has now been taken, although the exact procedure is still being deter... Super,M. - Archives of Disease in Childhood -- Fetal & Neonatal Edition 被...
Carriers of a single CF mutation have a higher prevalence of CRS than the general population. 展开 关键词: Humans Cystic Fibrosis Sinusitis Rhinitis Cystic Fibrosis Transmembrane Conductance Regulator Health Surveys Questionnaires Prevalence Sensitivity and Specificity Case-Control Studies ...
Development of a sensitive, easily performed, reliable test would be an important advance in detecting cystic fibrosis, improving genetic counselling and providing early effective treatment. The sweat chloride test, which is reliable in diagnosis, is technically too difficult for a screening program, an...
To evaluate the association between female cystic fibrosis (CF) carrier status and in vitro fertilization (IVF) response and outcomes. The presence of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in male carriers has been associated with infertility, yet possible adverse effe...
Mild cystic fibrosis in carriers of two nonsense mutations – a case of genetic compensation response?CFTRdoi:10.1016/j.jcf.2019.06.012BurkhardClinicTümmlerClinicJournal of cystic fibrosis : official journal of the European Cystic Fibrosis Society...
a person or firm in the business of transporting people or goods or messages 同义词:common carrier a radio wave that can be modulated in order to transmit a signal 同义词:carrier wave a man who delivers the mail 同义词:mailmanpostmanmail carrierletter carrier ...
Huntington’s disease, multiple sclerosis (MS), hereditary breast and ovarian cancer (BRCA), cystic fibrosis (CF), Down syndrome, dementia and amyotrophic lateral sclerosis (ALS) were mentioned as examples of serious conditions. Almost all participants were convinced of the importance of ...
Learn more about this topic: Heterozygote Advantage | Definition & Examples from Chapter 14 / Lesson 13 97K Learn what the heterozygote advantage is in terms of alleles. Explore examples of the heterozygote advantage, such ...
Human genome editing technologies are advancing at a rapid pace, and their potential disruptive implications lead to ethical and societal questions that cannot be addressed by scientists alone. Further consideration of different stakeholders’ views on h