-
1
-
-
36348994265
-
Comprehensive and rapid genotyping of mutations and haplotypes in CBAVD and other CFTR-related disorders
-
Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M: Comprehensive and rapid genotyping of mutations and haplotypes in CBAVD and other CFTR-related disorders. J Mol Diagn 2007, 9:582-588
-
(2007)
J Mol Diagn
, vol.9
, pp. 582-588
-
-
Bareil, C.1
Guittard, C.2
Altieri, J.P.3
Templin, C.4
Claustres, M.5
des Georges, M.6
-
2
-
-
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, de Ravel TJ, Westwood AT, Claustres M, Ramsay M: First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996, 33:802-804
-
(1996)
J Med Genet
, vol.33
, 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.7
Westwood, A.T.8
Claustres, M.9
Ramsay, M.10
-
3
-
-
0032984608
-
First putative sequence alterations in the minimal CFTR promoter region
-
Romey MC, Guittard C, Carles S, Demaille, Ramsay M, Claustres M: First putative sequence alterations in the minimal CFTR promoter region. J Med Genet 1999, 36:263-264
-
(1999)
J Med Genet
, vol.36
, pp. 263-264
-
-
Romey, M.C.1
Guittard, C.2
Carles, S.3
Demaille4
Ramsay, M.5
Claustres, M.6
-
4
-
-
33646068392
-
-
Ferec C, Casals T, Chuzhanova N, Macek M Jr., Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006, 14:567-576
-
Ferec C, Casals T, Chuzhanova N, Macek M Jr., Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell PM, Sheridan M, Pantaleo SJ, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting GR, Williamson R, Ramos MJ, Pignatti PF, Raguénès O, Cooper DN, Audrézet MP, Chen JM: Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006, 14:567-576
-
-
-
-
5
-
-
85031391304
-
-
Girardet A, Guittard C, Altieri J-P, Templin C, Stremler N, Beroud C, des Georges M, Claustres M: Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements. Clin Genet 2007, 72:1-4
-
Girardet A, Guittard C, Altieri J-P, Templin C, Stremler N, Beroud C, des Georges M, Claustres M: Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements. Clin Genet 2007, 72:1-4
-
-
-
-
6
-
-
34249654482
-
-
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M: Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007, 8:22-27
-
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C, des Georges M, Claustres M: Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 2007, 8:22-27
-
-
-
-
7
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten J, McElgunn C, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl Acids Res 2002, 30:e57
-
(2002)
Nucl Acids Res
, vol.30
-
-
Schouten, J.1
McElgunn, C.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
8
-
-
0025760318
-
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991, 10:214-228
-
(1991)
Genomics
, vol.10
, pp. 214-228
-
-
Zielenski, J.1
Rozmahel, R.2
Bozon, D.3
Kerem, B.4
Grzelczak, Z.5
Riordan, J.R.6
Rommens, J.7
Tsui, L.C.8
-
9
-
-
0035169491
-
The molecular basis of cystic fibrosis in South Africa
-
Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M: The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001, 59:37-41
-
(2001)
Clin Genet
, vol.59
, pp. 37-41
-
-
Goldman, A.1
Labrum, R.2
Claustres, M.3
Desgeorges, M.4
Guittard, C.5
Wallace, A.6
Ramsay, M.7
-
10
-
-
33645976875
-
Diagnosing cystic fibrosis in South Africa
-
Westwood T, Henderson B, Ramsay M: Diagnosing cystic fibrosis in South Africa. S Afr Med J 2006, 96:304-305
-
(2006)
S Afr Med J
, vol.96
, pp. 304-305
-
-
Westwood, T.1
Henderson, B.2
Ramsay, M.3
-
11
-
-
33748608530
-
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: Implications for population screening
-
Faa V, Bettoli PP, Demurtas M, Zanda M, Ferri V, Cao A, Rosatelli MC: A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening. J Mol Diagn 2006, 8:499-503
-
(2006)
J Mol Diagn
, vol.8
, pp. 499-503
-
-
Faa, V.1
Bettoli, P.P.2
Demurtas, M.3
Zanda, M.4
Ferri, V.5
Cao, A.6
Rosatelli, M.C.7
-
12
-
-
18344396798
-
Comprehensive human genome amplification using multiple displacement amplification
-
Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J, Driscoll M, Song W, Kingsmore SF, Egholm M, Lasken RS: Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA 2002, 99:5261-5266
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 5261-5266
-
-
Dean, F.B.1
Hosono, S.2
Fang, L.3
Wu, X.4
Faruqi, A.F.5
Bray-Ward, P.6
Sun, Z.7
Zong, Q.8
Du, Y.9
Du, J.10
Driscoll, M.11
Song, W.12
Kingsmore, S.F.13
Egholm, M.14
Lasken, R.S.15
-
13
-
-
41149141016
-
Multiple strand displacement amplification of mitochondrial DNA from clinical samples
-
Maragh S, Jakupciak JP, Wagner PD, Rom WN, Sidransky D, Srivastava S, O'Connell CD: Multiple strand displacement amplification of mitochondrial DNA from clinical samples. BMC Med Genet 2008, 9:7-15
-
(2008)
BMC Med Genet
, vol.9
, pp. 7-15
-
-
Maragh, S.1
Jakupciak, J.P.2
Wagner, P.D.3
Rom, W.N.4
Sidransky, D.5
Srivastava, S.6
O'Connell, C.D.7
-
14
-
-
34248678989
-
Whole-genome multiple displacement amplification from single cells
-
Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K: Whole-genome multiple displacement amplification from single cells. Nat Protoc 2006, 1:1965-1970
-
(2006)
Nat Protoc
, vol.1
, pp. 1965-1970
-
-
Spits, C.1
Le Caignec, C.2
De Rycke, M.3
Van Haute, L.4
Van Steirteghem, A.5
Liebaers, I.6
Sermon, K.7
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