-
1
-
-
0000412801
-
Cystic fibrosis
-
Rimoin DL, Connor JM, Pyeritz RE, edi, 3rd ed. New York: Churchill-Livingstone
-
Cutting GR. Cystic fibrosis. In: Rimoin DL, Connor JM, Pyeritz RE, (edi). Emery and Rimoin's principles and practice of medical genetics. Vol. 2. 3rd ed. New York: Churchill-Livingstone, 1997: 2685-717.
-
(1997)
Emery and Rimoin's principles and practice of medical genetics
, vol.2
, pp. 2685-2717
-
-
Cutting, G.R.1
-
2
-
-
77950152834
-
-
The Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation data base. http://www.genet.sickkids.on.ca/cftr/ (accessed Dec. 12, 2005).
-
The Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation data base. http://www.genet.sickkids.on.ca/cftr/ (accessed Dec. 12, 2005).
-
-
-
-
3
-
-
0000024774
-
Identification of cystic fibrosis mutations in the United Arab Emirates
-
Frossard PM, Girodon E, Dawson KP, Ghanem N, Plassa F, Lestringant GG, et al. Identification of cystic fibrosis mutations in the United Arab Emirates. Human Mutat 1997; 1:412-3.
-
(1997)
Human Mutat
, vol.1
, pp. 412-413
-
-
Frossard, P.M.1
Girodon, E.2
Dawson, K.P.3
Ghanem, N.4
Plassa, F.5
Lestringant, G.G.6
-
4
-
-
0026780584
-
Molecular characterization of cystic fibrosis; 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
-
Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, et al. Molecular characterization of cystic fibrosis; 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992; 13:770-6.
-
(1992)
Genomics
, vol.13
, pp. 770-776
-
-
Fanen, P.1
Ghanem, N.2
Vidaud, M.3
Besmond, C.4
Martin, J.5
Costes, B.6
-
5
-
-
0027325822
-
A rapid, efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
-
Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 1993; 2: 185-91.
-
(1993)
Hum Mutat
, vol.2
, pp. 185-191
-
-
Costes, B.1
Fanen, P.2
Goossens, M.3
Ghanem, N.4
-
6
-
-
0006556033
-
The identification of a novel CFTR mutation:3120+1G→A
-
Macek M Jr, Davis CL, Hamosh A, Anvret M, Cutting GR.The identification of a novel CFTR mutation:3120+1G→A. The cystic fibrosis genetic analysis consortium.1993;56:1-2.
-
(1993)
The cystic fibrosis genetic analysis consortium
, vol.56
, pp. 1-2
-
-
Macek Jr, M.1
Davis, C.L.2
Hamosh, A.3
Anvret, M.4
Cutting, G.R.5
-
7
-
-
16944366526
-
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
-
Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997 ;60:1122-7.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1122-1127
-
-
Macek Jr, M.1
Mackova, A.2
Hamosh, A.3
Hilman, B.C.4
Selden, R.F.5
Lucotte, G.6
-
8
-
-
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.
-
(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
-
9
-
-
0035169491
-
The molecular basis of cystic fibrosis in South Africa
-
Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, et al. 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
-
10
-
-
0032231388
-
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G→A in diverse populations
-
Dork T, El-Harith EH, Stuhrmann M, Macek M Jr, Egan M, Cutting GR, et al. Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G→A in diverse populations. Am J Hum Genet 1998; 63: 656-62.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 656-662
-
-
Dork, T.1
El-Harith, E.H.2
Stuhrmann, M.3
Macek Jr, M.4
Egan, M.5
Cutting, G.R.6
|