-
1
-
-
9744283700
-
Report to Cystic Fibrosis Genetic Analysis Consortium
-
ANTONIADI, T., TZETIS, M., and KANAVAKIS, E. (1996). Report to Cystic Fibrosis Genetic Analysis Consortium. Newsletter 69, 19.
-
(1996)
Newsletter
, vol.69
, pp. 19
-
-
Antoniadi, T.1
Tzetis, M.2
Kanavakis, E.3
-
2
-
-
0028229545
-
Identification of three novel mutations (457TAT-G, D192G, Q685X) in the Slovenian cystic fibrosis patients
-
AUDREZET, M.P., CANKI-KLEIN, N., MERCIER B., et al. (1994). Identification of three novel mutations (457TAT-G, D192G, Q685X) in the Slovenian cystic fibrosis patients. Hum. Genet. 93, 659-662.
-
(1994)
Hum. Genet.
, vol.93
, pp. 659-662
-
-
Audrezet, M.P.1
Canki-Klein, N.2
Mercier, B.3
-
3
-
-
0036258208
-
Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
-
BOBADILLA, J.L., MACEK, M. Jr., FINE, J.P., et al. (2002). Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum. Mutat. 19, 575-606.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek Jr., M.2
Fine, J.P.3
-
4
-
-
0027325822
-
A rapid efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
-
COSTES, B., FANEN, P., GOOSSENS, M., et al. (1993). A rapid efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum. Mutat. 2, 185-191.
-
(1993)
Hum. Mutat.
, vol.2
, pp. 185-191
-
-
Costes, B.1
Fanen, P.2
Goossens, M.3
-
5
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM (1994). Population variation of common cystic fibrosis mutations. Hum. Mutat. 4, 167-177.
-
(1994)
Hum. Mutat.
, vol.4
, pp. 167-177
-
-
-
6
-
-
85039465614
-
-
CYSTIC FIBROSIS GENETIC ANALYSIS CONSORTIUM (2003). The CFTR mutation database. (http://www.genet.sickkids.on.ca/cftr).
-
(2003)
The CFTR Mutation Database
-
-
-
7
-
-
0026516398
-
Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav cystic fibrosis patients
-
DABOVIC, B., RADOJKOVIC, D., MINIC, P., et al. (1992). Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav cystic fibrosis patients. Hum. Genet. 88, 699-700.
-
(1992)
Hum. Genet.
, vol.88
, pp. 699-700
-
-
Dabovic, B.1
Radojkovic, D.2
Minic, P.3
-
8
-
-
0033724589
-
Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis
-
DEQUEKER, E., CUPPENS, H., DODGE, J., et al. (2000). Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis. Eur. J. Hum. Genet. 8, S2-S24.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
-
-
Dequeker, E.1
Cuppens, H.2
Dodge, J.3
-
9
-
-
0025820979
-
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene
-
DORK, T., WULBRAND, U., RICHTER, T., et al. (1991). Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum. Genet. 87, 441-446.
-
(1991)
Hum. Genet.
, vol.87
, pp. 441-446
-
-
Dork, T.1
Wulbrand, U.2
Richter, T.3
-
10
-
-
0026551786
-
Intra- and extragenic marker haplotypes of CFTR mutation in cystic fibrosis families
-
DORK, T., NEUMANN, T., WULBRAND, U., et al. (1992). Intra- and extragenic marker haplotypes of CFTR mutation in cystic fibrosis families. Hum. Genet. 88, 417-425.
-
(1992)
Hum. Genet.
, vol.88
, pp. 417-425
-
-
Dork, T.1
Neumann, T.2
Wulbrand, U.3
-
11
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
-
The Biomed CF Mutation Analysis Consortium
-
ESTIVILL, X., BANCELLS, C., and RAMOS, C. (1997). Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum. Mutat. 10, 135-154.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
12
-
-
0026780584
-
Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of whole CFTR coding regions and splice site junctions
-
FANEN, P., GHANEM, N.G., VIDAUD, M., et al. (1992). Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of whole CFTR coding regions and splice site junctions. Genomics 13, 770-776.
-
(1992)
Genomics
, vol.13
, pp. 770-776
-
-
Fanen, P.1
Ghanem, N.G.2
Vidaud, M.3
-
13
-
-
0043133693
-
Cystic fibrosis in Greece: Molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
-
KANAVAKIS, E., EFTHYMIADOU, A., STROFALIS, S., et al. (2003). Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clin. Genet. 63, 1-10.
-
(2003)
Clin. Genet.
, vol.63
, pp. 1-10
-
-
Kanavakis, E.1
Efthymiadou, A.2
Strofalis, S.3
-
14
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
KEREM, B.S., ROMMENS, J.M., BUCHANON, J.A., et al. (1989). Identification of the cystic fibrosis gene: Genetic analysis. Science 245, 1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.S.1
Rommens, J.M.2
Buchanon, J.A.3
-
15
-
-
0034458279
-
Mutation profile of the most common genetic disorders in Bulgaria
-
KREMENSKY, I., JORDANOVA, A., TODOROVA, A., et al. (2000). Mutation profile of the most common genetic disorders in Bulgaria. Balkan J. Med. Genet. 3, 3-12.
-
(2000)
Balkan J. Med. Genet.
, vol.3
, pp. 3-12
-
-
Kremensky, I.1
Jordanova, A.2
Todorova, A.3
-
16
-
-
0035758166
-
Cystic fibrosis in Macedonia: An update
-
KOCEVA, S., PLASESKA-KARANFILSKA, D., FUSTIC-NACEVA, S., et al. (2001). Cystic fibrosis in Macedonia: an update. Balkan J. Med. Genet. 4, 47-51.
-
(2001)
Balkan J. Med. Genet.
, vol.4
, pp. 47-51
-
-
Koceva, S.1
Plaseska-Karanfilska, D.2
Fustic-Naceva, S.3
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
MILLER, S.A., DYKES, D.D., and FOLESKY, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Folesky, H.F.3
-
18
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
RIORDAN J.R., ROMMENS J.M., KEREM R., et al. (1989). Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245, 1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, R.3
-
19
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
ROMMENS, J.M., IANNUZZI, M.C., KEREM, B.S., et al. (1989). Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245, 1059-1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.S.3
-
20
-
-
0025068849
-
Rapid nonradioactive detection of the major cystic fibrosis mutation
-
ROMMENS, J.M., KEREM, B.S., GREER, W., et al. (1990). Rapid nonradioactive detection of the major cystic fibrosis mutation. Am. J. Hum. Genet. 46, 395-396.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 395-396
-
-
Rommens, J.M.1
Kerem, B.S.2
Greer, W.3
-
21
-
-
0029045386
-
Double mutant alleles: Are they rare?
-
SAVOV, A., ANGELICHEVA, D., BALASSOPOULOU, A., et al. (1995). Double mutant alleles: are they rare? Hum. Mol. Genet. 4, 1169-1171.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1169-1171
-
-
Savov, A.1
Angelicheva, D.2
Balassopoulou, A.3
-
22
-
-
0033628190
-
Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra
-
VOUK, K., STRMECKI, L., LIOVIC, M., et al. (2000). Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. Pfluger's Arch. 439(3 Suppl):R63-R65.
-
(2000)
Pfluger's Arch.
, vol.439
, Issue.3 SUPPL.
-
-
Vouk, K.1
Strmecki, L.2
Liovic, M.3
-
23
-
-
0000026508
-
Cystic fibrosis
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle (eds.). McGrawHill, New York
-
th edn. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle (eds.). McGrawHill, New York, pp. 3799-3876.
-
(1995)
th Edn.
, pp. 3799-3876
-
-
Welsh, M.1
Tsui, L.C.2
Boat, T.F.3
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