Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis

1988 ◽  
Vol 79 (1) ◽  
pp. 64-67 ◽  
Author(s):  
J. Morreau ◽  
M. Sinaasappel ◽  
B. A. Oostra ◽  
D. J. J. Halley
1996 ◽  
Vol 12 (2) ◽  
pp. 149-153
Author(s):  
G. Amalfitano ◽  
E. Tonolli ◽  
F. Favari ◽  
C. Perazzoli ◽  
G. Cazzola ◽  
...  

10.2223/1345 ◽  
2005 ◽  
Vol 81 (3) ◽  
pp. 240-244
Author(s):  
Grégor P. Chermikoski Santos ◽  
Mouseline T. Domingos ◽  
Ehrenfried O. Wittig ◽  
Carlos A. Riedi ◽  
Nelson A. Rosário

2012 ◽  
Vol 24 ◽  
pp. S10-S11
Author(s):  
Silvia Modamio-Høybjør ◽  
Silvia Fernández ◽  
Raquel Garcia ◽  
Moisés De La Casa ◽  
Ferran Garcia ◽  
...  

2021 ◽  
Author(s):  
Hussein El Hajj ◽  
Douglas R. Bish ◽  
Ebru K. Bish

Improving Newborn Screening for Genetic Diseases Screening newborns for life-threatening genetic diseases is an important public health initiative. Cystic fibrosis is one of the most prevalent diseases in this context. As part of the cystic fibrosis screening process, all states in the United States use multiple tests, including genetic tests that detect a subset of the more than 300 genetic variants (specific mutations) that cause cystic fibrosis. In “Optimal Genetic Screening for Cystic Fibrosis,” El-Hajj, D.R. Bish, and E.K. Bish develop a decision support model to select which genetic variants to screen for, considering the trade-off between classification accuracy and testing cost, and the technological constraints that limit the number of variants selected. Because variant prevalence rates are highly uncertain, a robust optimization framework is developed. Further, two commonly used cystic fibrosis screening processes are analytically compared, and conditions under which each process dominates are established. A case study based on published data are provided.


2005 ◽  
Vol 50 (3) ◽  
pp. 205-210 ◽  
Author(s):  
Lee P. Shulman

2005 ◽  
Vol 147 (3) ◽  
pp. S89-S93 ◽  
Author(s):  
Anne Marie Comeau ◽  
Richard Parad ◽  
Robert Gerstle ◽  
Brian P. O'Sullivan ◽  
Henry L. Dorkin ◽  
...  

1988 ◽  
Vol 69 (3) ◽  
pp. 699-704 ◽  
Author(s):  
F. M. Van Den Berg ◽  
M. Jiwa ◽  
R. Rook ◽  
J. L. M. C. Geelen

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