Examines the frequency of carriers of cystic fibrosis among patients with myeloid malignancy and melanoma in Great Britain. Observation of the cloned cystic fibrosis gene; Obtainment of normal DNA among respondents; Use of modified polymerase chain reaction procedure.Warren...
1. Characterize patient visits for chronic rhinosinusitis on the basis of age, gender, race, diagnostic services, and medication use. 2. Evaluate regional ... WM Smith,TM Davidson,C Murphy - Otolaryngology - Head and Neck Surgery 被引量: 50发表: 2009年 Cystic fibrosis gene mutations deltaF50...
A person who has both HbN and HbS is a carrier of the disease but does not exhibit symptoms. Explain in terms of molecular interactions why a carrier does not exhibit symptoms of the disease. People can be asymptomatic c...
Major clinical feature of the KND cohort was neurodevelopmental disease (84.1%; Fig. 1b). Integrative assessments of genetic variants, their clinical impacts, and patient symptoms allowed us to diagnose 40.3% (223/553) of the cohort with high confidence. This group of patients included carriers ...
Department of Public HealthJ D HabbemaDepartment of Public HealthJournal of Epidemiology and Community HealthWildhagen MF, Hilderink HB, Verzijl JG, Verheij JB, Kooij L, Tijmstra T, et al. Costs, effects, and savings of screening for cystic fibrosis gene carriers. J Epidemiol Community Health ...
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 ...
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 ...
Active cascade testing for carriers of cystic fibrosis gene. BMJ. 1994;308:1462-1467.Super M, Schwarz MJ, Malone G, Roberts T, Haworth A, Dermody G (1994) Active cascade testing for carriers of cystic fibrosis gene. Br Med J 308: 1462-1468....
Cystic fibrosis (CF) is a single gene defect that leads to abnormal ion transport at all mucosal surfaces in the body. Pulmonary complications, due to the accumulation of hyper-viscoelastic sputum together with chronic infection and inflammation in the airways, are the primary cause of morbidity ...
A hyperactive ENaC does not necessarily cause CF-like disease in a CF gene carrier, but its low frequency in CF parents suggests that it is a risk factor.doi:10.1016/j.jcf.2011.08.008Melanie HandschickSilke HedtfeldBurkhard TümmlerElsevier B.V.Journal of cystic fibrosis: official journal of...