-
1
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies
-
Beggs, A. H., Hoffman, E. P., Snyder, J. R., Araheta, K., Specht, L., Shapiro, F., Angelini, C., Sugita, H., and Kunkel, L. M. (1991). Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies. Am. J. Hum. Genet. 49: 54-67.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 54-67
-
-
Beggs, A.H.1
Hoffman, E.P.2
Snyder, J.R.3
Araheta, K.4
Specht, L.5
Shapiro, F.6
Angelini, C.7
Sugita, H.8
Kunkel, L.M.9
-
2
-
-
0026864614
-
Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in schwannoma cells
-
Blake, D. J., Love, D. R., Tinsley, J., Morris, G. E., Turley, H., Gatter, K., Dickson, G., Edwards, Y. H., and Davies, K. E. (1992). Characterization of a 4.8 kb transcript from the Duchenne muscular dystrophy locus expressed in schwannoma cells. Hum. Mol. Genet. 1: 103-109.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 103-109
-
-
Blake, D.J.1
Love, D.R.2
Tinsley, J.3
Morris, G.E.4
Turley, H.5
Gatter, K.6
Dickson, G.7
Edwards, Y.H.8
Davies, K.E.9
-
3
-
-
0025719080
-
242 Breakpoints in the 200-kb deletion-prone p20 region of the DMD gene are widely spread
-
Blonden L. A. J., Grootscholten, P. M., Den Dunnen, J. T., Bakker, E., Abbs, S., Bobrow, M., Boehm, C., van Broeckoven, C., Baumback, L., Chamberlain, J., Caskey, C. T., Denton, M., Felicetti, L., Galluzzi, G., Fischbeck, K. H., Francke, U., Darras, B., Gilkenkranz, H., Kaplan, J.-C., Hermann, F. H., Junien, C., Boileau, C., et al. (1991). 242 breakpoints in the 200-kb deletion-prone p20 region of the DMD gene are widely spread. Genomics 10: 631-639.
-
(1991)
Genomics
, vol.10
, pp. 631-639
-
-
Blonden, L.A.J.1
Grootscholten, P.M.2
Den Dunnen, J.T.3
Bakker, E.4
Abbs, S.5
Bobrow, M.6
Boehm, C.7
Van Broeckoven, C.8
Baumback, L.9
Chamberlain, J.10
Caskey, C.T.11
Denton, M.12
Felicetti, L.13
Galluzzi, G.14
Fischbeck, K.H.15
Francke, U.16
Darras, B.17
Gilkenkranz, H.18
Kaplan, J.-C.19
Hermann, F.H.20
Junien, C.21
Boileau, C.22
more..
-
4
-
-
0026013330
-
Dystrophin is transcribed in brain from a distant upstream promoter
-
Boyce, F. M., Beggs, A. H., Feener, C., and Kunkel, L. M. (1991). Dystrophin is transcribed in brain from a distant upstream promoter. Proc. Natl. Acad. Sci. USA 88: 1276-1280.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 1276-1280
-
-
Boyce, F.M.1
Beggs, A.H.2
Feener, C.3
Kunkel, L.M.4
-
5
-
-
0028261194
-
Effective amplification of long targets from cloned inserts of human genomic DNA
-
Cheng, S., Fockler, C., Barnes, W. M., and Higuchi, R. (1994). Effective amplification of long targets from cloned inserts of human genomic DNA. Proc. Natl. Acad. Sci. USA 91: 5695-5699.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 5695-5699
-
-
Cheng, S.1
Fockler, C.2
Barnes, W.M.3
Higuchi, R.4
-
6
-
-
0026608273
-
Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach
-
Coffey, A. J., Roberts, R. G., Green, E. D., Cole, C. G., Butler, R., Anand, R., Giannelli, F., and Bentley, D. R. (1992). Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach. Genomics 12: 474-484.
-
(1992)
Genomics
, vol.12
, pp. 474-484
-
-
Coffey, A.J.1
Roberts, R.G.2
Green, E.D.3
Cole, C.G.4
Butler, R.5
Anand, R.6
Giannelli, F.7
Bentley, D.R.8
-
7
-
-
0027195244
-
Patterns of deletions of the dystrophin gene in different European populations
-
Danieli, G. A., Mioni, F., Muller, C. R., Vitiello, L., Mostacciuolo, M. L., and Grimm, T. (1993). Patterns of deletions of the dystrophin gene in different European populations. Hum. Genet. 91: 342-346.
-
(1993)
Hum. Genet.
, vol.91
, pp. 342-346
-
-
Danieli, G.A.1
Mioni, F.2
Muller, C.R.3
Vitiello, L.4
Mostacciuolo, M.L.5
Grimm, T.6
-
8
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveal 115 deletions and 13 duplications
-
Den Dunnen, J. T., Grootscholten, P. M., Bakker, E., Blonden, L. A. J., Ginjar, H. B., Wapenaar, M. C., van Paassen, H. M. B., van Broeckhonen, C., Pearson, P. L., and van Ommen, G. J. B. (1989). Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveal 115 deletions and 13 duplications. Am. J. Hum. Genet. 45: 835-847.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
Blonden, L.A.J.4
Ginjar, H.B.5
Wapenaar, M.C.6
Van Paassen, H.M.B.7
Van Broeckhonen, C.8
Pearson, P.L.9
Van Ommen, G.J.B.10
-
9
-
-
0029061752
-
A novel dystrophin isoform is required for normal retinal electrophysiology
-
D'Souza V. N., Man, N. C., Morris, G. E., Karger, W., Pillers, D. A. M., and Ray, P. N. (1995). A novel dystrophin isoform is required for normal retinal electrophysiology. Hum. Mol. Genet. 4: 837-842.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 837-842
-
-
D'Souza, V.N.1
Man, N.C.2
Morris, G.E.3
Karger, W.4
Pillers, D.A.M.5
Ray, P.N.6
-
10
-
-
0026937998
-
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
-
Gorecki, D. C., Monaco, A. P., Derry, J. M. J., Walker, A. P., Barnard, E. A., and Barnard, P. J. (1992). Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet. 1: 505-510.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 505-510
-
-
Gorecki, D.C.1
Monaco, A.P.2
Derry, J.M.J.3
Walker, A.P.4
Barnard, E.A.5
Barnard, P.J.6
-
11
-
-
0024455248
-
Familial X-linked myalgia and cramps: A non-progressive myopathy associated with a deletion in the dystrophin gene
-
Gospe, S. M., Lazaro, R. P., Lava, N. S., Grootscholten, P. M., Scott, M., and Fischbeck, K. H. (1989). Familial X-linked myalgia and cramps: A non-progressive myopathy associated with a deletion in the dystrophin gene. Neurology 19: 1277-1280.
-
(1989)
Neurology
, vol.19
, pp. 1277-1280
-
-
Gospe, S.M.1
Lazaro, R.P.2
Lava, N.S.3
Grootscholten, P.M.4
Scott, M.5
Fischbeck, K.H.6
-
12
-
-
0027537790
-
Vertical integration of cosmid and YAC resources for interval mapping on the X chromosome
-
Holland, J., Coffey, A. J., Giannelli, F., and Bentley, D. R. (1993). Vertical integration of cosmid and YAC resources for interval mapping on the X chromosome. Genomics 15: 297-304.
-
(1993)
Genomics
, vol.15
, pp. 297-304
-
-
Holland, J.1
Coffey, A.J.2
Giannelli, F.3
Bentley, D.R.4
-
13
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlation
-
Hu, X., Ray, P. N., Gordon Murphy, E., Thompson, M. W., and Worton, R. J (1990). Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlation. Am. J. Hum. Genet. 46: 682-695.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 682-695
-
-
Hu, X.1
Ray, P.N.2
Gordon Murphy, E.3
Thompson, M.W.4
Worton, R.J.5
-
14
-
-
0025181885
-
Molecular and functional analysis of the muscle specific promoter region of the Duchenne muscular dystrophy gene
-
Klamut, H. J., Gangopadhyay, S. B., Worton, R. G., and Ray, P. N. (1990). Molecular and functional analysis of the muscle specific promoter region of the Duchenne muscular dystrophy gene. Mol. Cell. Biol. 10: 193-205.
-
(1990)
Mol. Cell. Biol.
, vol.10
, pp. 193-205
-
-
Klamut, H.J.1
Gangopadhyay, S.B.2
Worton, R.G.3
Ray, P.N.4
-
15
-
-
0029824347
-
Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene
-
Klamut, H. J., Bosnoyan-Collins, L. O., Worton, R. G., Ray, P. N., and Davis, H. L. (1996). Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene. Hum. Mol. Genet. 51: 1599-1606.
-
(1996)
Hum. Mol. Genet.
, vol.51
, pp. 1599-1606
-
-
Klamut, H.J.1
Bosnoyan-Collins, L.O.2
Worton, R.G.3
Ray, P.N.4
Davis, H.L.5
-
16
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koening, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Betteken, T., Meng, G., Muller, C. R., Lindlof, M., Kaariainen, H., de la Chapelle, A., Kiuru, A., Savontaus, M. L., Gilkenkrantz, H., Recan, D., Khelly, J., Kaplan, J. C., Covone, A. E., Archidiacono, N., Romeo, G., Liechti-Gallati, S., Schneider, V., Braga, S., Moser, H., Darras, B. T., Murphy, P., Francke, U., Chen, J. D., Morgan, G., Denton, M., Greenberg, C. R., Wrogemann, K., Blonden, L. A. J., van Paassen, H. M. B., van Ommen, G. J. B., and Kunkel, L. M. (1989). The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am. J. Hum. Genet. 45: 498-506.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 498-506
-
-
Koening, M.1
Beggs, A.H.2
Moyer, M.3
Scherpf, S.4
Heindrich, K.5
Betteken, T.6
Meng, G.7
Muller, C.R.8
Lindlof, M.9
Kaariainen, H.10
De La Chapelle, A.11
Kiuru, A.12
Savontaus, M.L.13
Gilkenkrantz, H.14
Recan, D.15
Khelly, J.16
Kaplan, J.C.17
Covone, A.E.18
Archidiacono, N.19
Romeo, G.20
Liechti-Gallati, S.21
Schneider, V.22
Braga, S.23
Moser, H.24
Darras, B.T.25
Murphy, P.26
Francke, U.27
Chen, J.D.28
Morgan, G.29
Denton, M.30
Greenberg, C.R.31
Wrogemann, K.32
Blonden, L.A.J.33
Van Paassen, H.M.B.34
Van Ommen, G.J.B.35
Kunkel, L.M.36
more..
-
17
-
-
0026653859
-
A 71 kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and in nonmuscle tissues
-
Lederfein, D., Levy, Z., Augier, N., Mornet, D., Morris, G. E., Fuchs, O., Yaffe, D., and Nudel, U. (1992). A 71 kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and in nonmuscle tissues. Proc. Natl. Acad. Sci. USA 89: 5346-5350.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 5346-5350
-
-
Lederfein, D.1
Levy, Z.2
Augier, N.3
Mornet, D.4
Morris, G.E.5
Fuchs, O.6
Yaffe, D.7
Nudel, U.8
-
18
-
-
0028937525
-
Dp140: A novel 140 kDa CNS transcript from the dystrophin locus
-
Lidov, H. G. W., Selig, S., and Kunkel, L. M. (1995). Dp140: A novel 140 kDa CNS transcript from the dystrophin locus. Hum. Mol. Genet. 4: 329-335.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 329-335
-
-
Lidov, H.G.W.1
Selig, S.2
Kunkel, L.M.3
-
19
-
-
0023812570
-
Frame shift deletions in patients with Duchenne and Becker muscular dystrophy
-
Malhotra, S. B., Hart, K. A., Klamut, H. J., Thomas, N. S. T., Bodrug, S. E., Burghes, A. H. M., Bobrow, M., Harper, P. S., Thomson, M. W., Ray, P. N., and Worton, R. G. (1988). Frame shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242: 756-759.
-
(1988)
Science
, vol.242
, pp. 756-759
-
-
Malhotra, S.B.1
Hart, K.A.2
Klamut, H.J.3
Thomas, N.S.T.4
Bodrug, S.E.5
Burghes, A.H.M.6
Bobrow, M.7
Harper, P.S.8
Thomson, M.W.9
Ray, P.N.10
Worton, R.G.11
-
20
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S., Moser, H., and Kunkel, L. M. (1988). An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2: 90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, L.M.5
-
21
-
-
0026535028
-
A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene
-
Monaco, A. P., Walker, A. P., Millwood, I., Larin, Z., and Lehrach, H. (1992). A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. Genomics 12: 465-473.
-
(1992)
Genomics
, vol.12
, pp. 465-473
-
-
Monaco, A.P.1
Walker, A.P.2
Millwood, I.3
Larin, Z.4
Lehrach, H.5
-
22
-
-
0028501004
-
A refined restriction map of YAC clones spanning the entire human dystrophin gene
-
Nobile, C., and Marchi, J. (1994). A refined restriction map of YAC clones spanning the entire human dystrophin gene. Mamm. Genome 5: 566-571.
-
(1994)
Mamm. Genome
, vol.5
, pp. 566-571
-
-
Nobile, C.1
Marchi, J.2
-
23
-
-
0029153184
-
Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3′ region
-
Nobile, C, Galvagni, F., Marchi, J., Roberts, R., and Vitiello L. (1995). Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3′ region. Genomics 28: 97-100.
-
(1995)
Genomics
, vol.28
, pp. 97-100
-
-
Nobile, C.1
Galvagni, F.2
Marchi, J.3
Roberts, R.4
Vitiello, L.5
-
24
-
-
0026714803
-
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR
-
Roberts, R. G., Coffey, A. J., Bobrow, M., and Bentley, D. R. (1992). Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics 13: 942-950.
-
(1992)
Genomics
, vol.13
, pp. 942-950
-
-
Roberts, R.G.1
Coffey, A.J.2
Bobrow, M.3
Bentley, D.R.4
-
25
-
-
0027232968
-
Exon structure of the human dystrophin gene
-
Roberts, R. G., Coffey, A. J., Bobrow, M., and Bentley, D. R. (1993). Exon structure of the human dystrophin gene. Genomics 16: 536-538.
-
(1993)
Genomics
, vol.16
, pp. 536-538
-
-
Roberts, R.G.1
Coffey, A.J.2
Bobrow, M.3
Bentley, D.R.4
|