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Cystic fibrosis carrier detection

Cystic fibrosis carrier detection

Cystic fibrosis carrier detection

Tomaiuolo R, Spina M, & Castaldo G: Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003; 41(1):26-32.

Tietz NW (Ed): Clinical Guide to Laboratory Tests, 3rd ed. W. B. Saunders, Philadelphia, PA, 1995.

Comeau AM, Parad RB, Dorkin HL, et al: Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 2004; 113(6):1573-1581. Available from URL: http://pediatrics.aappublications.org/cgi/reprint/113/6/1573?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&searchid=1112043248472_15579&stored_search=&FIRSTINDEX=0&sortspec=relevance&volume=113&firstpage=1573&journalcode=pediatrics.

Lyon E & Miller C: Current challenges in cystic fibrosis screening. Arch Pathol Lab Med 2003; 127(9):1133-1139. Available from URL: http://arpa.allenpress.com/pdfserv/10.1043%2F1543-2165(2003)127%3C1133:CCICFS%3E2.0.CO%3B2.

Parad RB: Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement. Pediatrics 1998; 101(5):851-855.

Super M, Ivinson A, Schwarz M, et al: Clinic experience of prenatal diagnosis of cystic fibrosis by use of linked DNA probes. Lancet 1987; 2(8562):782-784.