-
1
-
-
84872829110
-
-
Accessed March 2011
-
Cystic Fibrosis Foundation. Patient registry report. http://www.cff.org/ research/ClinicalResearch/PatientRegistryReport (Accessed March 2011).
-
Patient Registry Report
-
-
-
2
-
-
0034109607
-
Genotype and phenotype in cystic fibrosis
-
Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:3-8.
-
(2000)
Respiration
, vol.67
, pp. 3-8
-
-
Zielenski, J.1
-
3
-
-
0026699908
-
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
-
Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992;51:951-6.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 951-956
-
-
Abeliovich, D.1
Lavon, I.P.2
Lerer, I.3
Cohen, T.4
Springer, C.5
Avital, A.6
Cutting, G.R.7
-
4
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG
-
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG). 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
-
5
-
-
4644263276
-
Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
-
DOI 10.1097/01.GIM.0000139505.06194.39
-
Palomaki GE, FitzSimmons SC, Haddow JE. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 2004;6:405-14. (Pubitemid 39304378)
-
(2004)
Genetics in Medicine
, vol.6
, Issue.5
, pp. 405-414
-
-
Palomaki, G.E.1
FitzSimmons, S.C.2
Haddow, J.E.3
-
6
-
-
0031953194
-
Comparison of the clinical manifestations of cystic fibrosis in black and white patients
-
DOI 10.1016/S0022-3476(98)70441-X
-
Hamosh A, FitzSimmons SC, Macek M, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998;132:255-9. (Pubitemid 28125176)
-
(1998)
Journal of Pediatrics
, vol.132
, Issue.2
, pp. 255-259
-
-
Hamosh, A.1
FitzSimmons, S.C.2
Macek Jr., M.3
Knowles, M.R.4
Rosenstein, B.J.5
Cutting, G.R.6
-
8
-
-
16644364841
-
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients
-
erratum 2005;25:223
-
Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, et al. Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat 2004;24:353; erratum 2005;25:223.
-
(2004)
Hum Mutat
, vol.24
, pp. 353
-
-
Alper, O.M.1
Wong, L.J.2
Young, S.3
Pearl, M.4
Graham, S.5
Sherwin, J.6
-
9
-
-
4644298390
-
CFTR mutation distribution among U.S. Hispanics 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. Hispanics 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
-
10
-
-
47649098156
-
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of hispanic individuals with cystic fibrosis
-
DOI 10.2353/jmoldx.2008.080004
-
Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong L-J. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn 2008;10:368-75. (Pubitemid 352019124)
-
(2008)
Journal of Molecular Diagnostics
, vol.10
, Issue.4
, pp. 368-375
-
-
Schrijver, I.1
Rappahahn, K.2
Pique, L.3
Kharrazi, M.4
Wong, L.-J.5
-
11
-
-
19244364425
-
First report of CFTR mutations in black cystic fibrosis patients of southern African origin
-
Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, et al. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996;33:802-4. (Pubitemid 26302501)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.9
, pp. 802-804
-
-
Carles, S.1
Desgeorges, M.2
Goldman, A.3
Thiart, R.4
Guittard, C.5
Kitazos, C.A.6
De Ravel, T.J.L.7
Westwood, A.T.R.8
Claustres, M.9
Ramsay, M.10
-
13
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
Watson M, 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.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
-
14
-
-
36248989104
-
The cystic fibrosis mutation "arms race": When less is more
-
Grody WW, Cutting GR, Watson MS. The cystic fibrosis mutation "arms race": when less is more. Genet Med 2007;9:739-44.
-
(2007)
Genet Med
, vol.9
, pp. 739-744
-
-
Grody, W.W.1
Cutting, G.R.2
Watson, M.S.3
-
15
-
-
79957684280
-
Cystic fibrosis carrier testing in an ethnically diverse US population
-
Rohlfs EM, Zhou Z, Heim RA, Nagan N, Rosenblum LS, Flynn K, et al. Cystic fibrosis carrier testing in an ethnically diverse US population. Clin Chem 2011;57:841-8.
-
(2011)
Clin Chem
, vol.57
, pp. 841-848
-
-
Rohlfs, E.M.1
Zhou, Z.2
Heim, R.A.3
Nagan, N.4
Rosenblum, L.S.5
Flynn, K.6
-
16
-
-
79951575618
-
Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis
-
Strom CM, Crossley B, Buller-Buerkle A, Jarvis M, Quan F, Peng M, et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 2011;11:166-72.
-
(2011)
Genet Med
, vol.11
, pp. 166-172
-
-
Strom, C.M.1
Crossley, B.2
Buller-Buerkle, A.3
Jarvis, M.4
Quan, F.5
Peng, M.6
|