-
1
-
-
0036511852
-
Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians
-
Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med 2002;4:90-4.
-
(2002)
Genet Med
, vol.4
, pp. 90-94
-
-
Palomaki, G.E.1
Haddow, J.E.2
Bradley, L.A.3
FitzSimmons, S.C.4
-
2
-
-
30544435397
-
-
The Hospital for Sick Children, http://www.genet.sickkids.on.ca/cftr/ (accessed February 22, 2005).
-
-
-
-
3
-
-
0035746484
-
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel
-
Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med 2001;3:168-76.
-
(2001)
Genet Med
, vol.3
, pp. 168-176
-
-
Heim, R.A.1
Sugarman, E.A.2
Allitto, B.A.3
-
4
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 Revision of American College of Medical Genetics mutation panel
-
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-91.
-
(2004)
Genet Med
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
-
5
-
-
4644298390
-
CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations
-
Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6:392-9.
-
(2004)
Genet Med
, vol.6
, pp. 392-399
-
-
Sugarman, E.A.1
Rohlfs, E.M.2
Silverman, L.M.3
Allitto, B.A.4
-
6
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-54.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
Richards, C.S.4
Watson, M.S.5
Desnick, R.J.6
-
7
-
-
0036727811
-
Standards and guidelines for CFTR mutation testing
-
Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, et al. Standards and guidelines for CFTR mutation testing. Genet Med 2002;4:379-91.
-
(2002)
Genet Med
, vol.4
, pp. 379-391
-
-
Richards, C.S.1
Bradley, L.A.2
Amos, J.3
Allitto, B.4
Grody, W.W.5
Maddalena, A.6
-
10
-
-
30544442193
-
Time-motion analysis of six cystic fibrosis mutation detection systems
-
Krafft A, Przybocki J, Dement J, Campbell S, Johnson D, Lichy JH. Time-motion analysis of six cystic fibrosis mutation detection systems [Abstract]. J Mol Diagn 2004;6:408.
-
(2004)
J Mol Diagn
, vol.6
, pp. 408
-
-
Krafft, A.1
Przybocki, J.2
Dement, J.3
Campbell, S.4
Johnson, D.5
Lichy, J.H.6
-
11
-
-
30544453837
-
An approach to positive controls for cystic fibrosis mutation detection
-
Lichy JH, Hu F, Przybocki J, Bijwaard KE, Dement J. An approach to positive controls for cystic fibrosis mutation detection [Abstract]. J Mol Diagn 2002;4:255.
-
(2002)
J Mol Diagn
, vol.4
, pp. 255
-
-
Lichy, J.H.1
Hu, F.2
Przybocki, J.3
Bijwaard, K.E.4
Dement, J.5
-
12
-
-
0031292837
-
Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis
-
Brinson EC, Adriano T, Bloch W, Brown CL, Chang CC, Chen J, et al. Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis. Genet Test 1997;1:61-8.
-
(1997)
Genet Test
, vol.1
, pp. 61-68
-
-
Brinson, E.C.1
Adriano, T.2
Bloch, W.3
Brown, C.L.4
Chang, C.C.5
Chen, J.6
-
13
-
-
0028986174
-
Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations
-
Eggerding FA, Iovannisci DM, Brinson E, Grossman P, Winn-Deen ES. Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations. Hum Mutat 1995;5:153-65.
-
(1995)
Hum Mutat
, vol.5
, pp. 153-165
-
-
Eggerding, F.A.1
Iovannisci, D.M.2
Brinson, E.3
Grossman, P.4
Winn-Deen, E.S.5
-
14
-
-
0029060589
-
A one-step coupled amplification and oligonucleotide ligation procedure for multiplex genetic typing
-
Eggerding FA. A one-step coupled amplification and oligonucleotide ligation procedure for multiplex genetic typing. PCR Methods Appl 1995;4:337-45.
-
(1995)
PCR Methods Appl
, vol.4
, pp. 337-345
-
-
Eggerding, F.A.1
-
15
-
-
0037337375
-
Origin and utility of the reverse dot-blot
-
Gold B. Origin and utility of the reverse dot-blot [Review]. Expert Rev Mol Diagn 2003;3:143-52.
-
(2003)
Expert Rev Mol Diagn
, vol.3
, pp. 143-152
-
-
Gold, B.1
-
16
-
-
0035383715
-
A universal laboratory platform for the new millennium
-
McDade R. A universal laboratory platform for the new millennium. Am Lab 2001;June:26-31.
-
(2001)
Am Lab
, vol.JUNE
, pp. 26-31
-
-
McDade, R.1
-
17
-
-
0033428098
-
Clinical, genetic, and pharmacogenetic applications of the Invader assay
-
Kwiatkowski RW, Lyamichev V, de Arruda M, Neri B. Clinical, genetic, and pharmacogenetic applications of the Invader assay. Mol Diagn 1999;4:353-64.
-
(1999)
Mol Diagn
, vol.4
, pp. 353-364
-
-
Kwiatkowski, R.W.1
Lyamichev, V.2
De Arruda, M.3
Neri, B.4
-
18
-
-
30544438916
-
Validation and implementation of a CF70 assay for enhanced detection of carriers
-
Amos J, French C, Gao D-Q, Ponek V, Thwe M, Kobler D, et al. Validation and implementation of a CF70 assay for enhanced detection of carriers [Abstract]. J Mol Diagn 2004;6:408.
-
(2004)
J Mol Diagn
, vol.6
, pp. 408
-
-
Amos, J.1
French, C.2
Gao, D.-Q.3
Ponek, V.4
Thwe, M.5
Kobler, D.6
|