-
1
-
-
0000801692
-
Dystrophinopathies
-
In: Engel AG, Franzini-Armstrong C, editors New York: McGraw-Hill
-
Engel AG, Yamamoto M, Fischbeck KH. Dystrophinopathies. In: Engel AG, Franzini-Armstrong C, editors. Myology. New York: McGraw-Hill, 1994:1133-1187.
-
(1994)
Myology
, pp. 1133-1187
-
-
Engel, A.G.1
Yamamoto, M.2
Fischbeck, K.H.3
-
2
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman E.P., Brown R.H. Jr., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 51:1987;919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown R.H., Jr.2
Kunkel, L.M.3
-
3
-
-
0030152856
-
Duchenne/Becker muscular dystrophy: From molecular diagnosis to gene therapy
-
Matsuo M. Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy. Brain Dev. 18:1996;167-172.
-
(1996)
Brain Dev
, vol.18
, pp. 167-172
-
-
Matsuo, M.1
-
4
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain J.S., Gibbs R.A., Ranier J.E., Nguyen P.N., Caskey C.T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16:1988;11141-11156.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
5
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs A.H., Koenig M., Boyce F.M., Kunkel L.M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 86:1990;45-48.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
6
-
-
0026938029
-
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP
-
Nigro V., Politano L., Nigro G., Romano S.C., Molinari A.M., Puca G.A. Detection of a nonsense mutation in the dystrophin gene by multiple SSCP. Hum Mol Genet. 1:1992;517-520.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 517-520
-
-
Nigro, V.1
Politano, L.2
Nigro, G.3
Romano, S.C.4
Molinari, A.M.5
Puca, G.A.6
-
7
-
-
0028914431
-
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis
-
Kneppers A.L., Deutz-Terlouw P.P., den Dunnen J.T., van Ommen G.J., Bakker E. Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis. Hum Mutat. 5:1995;235-242.
-
(1995)
Hum Mutat
, vol.5
, pp. 235-242
-
-
Kneppers, A.L.1
Deutz-Terlouw, P.P.2
Den Dunnen, J.T.3
Van Ommen, G.J.4
Bakker, E.5
-
8
-
-
0027195541
-
Identification of two point mutations and a one base deletion in exon 190 gene by hetroduplex formation
-
Prior T.W., Papp A.C., Snyder P.J., Burghes A.H., Sedra M.S., Western L.M.et al. Identification of two point mutations and a one base deletion in exon 190 gene by hetroduplex formation. Hum Mol Genet. 2:1993;311-313.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 311-313
-
-
Prior, T.W.1
Papp, A.C.2
Snyder, P.J.3
Burghes, A.H.4
Sedra, M.S.5
Western, L.M.6
-
9
-
-
0027272589
-
Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis
-
Prior T.W., Papp A.C., Snyder P.J., Burghes A.H., Sedra M.S., Western L.M.et al. Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis. Hum Mutat. 2:1993;192-195.
-
(1993)
Hum Mutat
, vol.2
, pp. 192-195
-
-
Prior, T.W.1
Papp, A.C.2
Snyder, P.J.3
Burghes, A.H.4
Sedra, M.S.5
Western, L.M.6
-
10
-
-
0027508882
-
Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy
-
Yau S.C., Roberts R.G., Bobrow M., Mathew C.G. Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy. Lancet. 341:1993;273-275.
-
(1993)
Lancet
, vol.341
, pp. 273-275
-
-
Yau, S.C.1
Roberts, R.G.2
Bobrow, M.3
Mathew, C.G.4
-
11
-
-
0025647598
-
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
-
Chelly J., Gilgenkrantz H., Lambert M., Hamard G., Chafey P., Recan D.et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell. 63:1990;1239-1248.
-
(1990)
Cell
, vol.63
, pp. 1239-1248
-
-
Chelly, J.1
Gilgenkrantz, H.2
Lambert, M.3
Hamard, G.4
Chafey, P.5
Recan, D.6
-
12
-
-
0026343877
-
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
-
Roberts R.G., Barby T.F., Manners E., Bobrow M., Bentley D.R. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet. 49:1991;298-310.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 298-310
-
-
Roberts, R.G.1
Barby, T.F.2
Manners, E.3
Bobrow, M.4
Bentley, D.R.5
-
13
-
-
0027493961
-
Protein truncation test (PTT) for rapid detection of translation-terminating mutations
-
Roest P.A., Roberts R.G., Sugino S., van Ommen G.J., den Dunnen J.T. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet. 2:1993;1719-1721.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1719-1721
-
-
Roest, P.A.1
Roberts, R.G.2
Sugino, S.3
Van Ommen, G.J.4
Den Dunnen, J.T.5
-
14
-
-
0027739689
-
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations
-
Roest P.A., Roberts R.G., van der Tuijin A.C., Heikoop J.C., van Ommen G.J., den Dunnen J.T. Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations. Neuromusc Disord. 3:1993;391-394.
-
(1993)
Neuromusc Disord
, vol.3
, pp. 391-394
-
-
Roest, P.A.1
Roberts, R.G.2
Van Der Tuijin, A.C.3
Heikoop, J.C.4
Van Ommen, G.J.5
Den Dunnen, J.T.6
-
15
-
-
0023905495
-
Transcription of the dystrophin gene in human muscle and non-muscle tissues
-
Chelly J., Kaplan J.C., Maire P., Gautron S., Kahn A. Transcription of the dystrophin gene in human muscle and non-muscle tissues. Nature. 333:1988;858-860.
-
(1988)
Nature
, vol.333
, pp. 858-860
-
-
Chelly, J.1
Kaplan, J.C.2
Maire, P.3
Gautron, S.4
Kahn, A.5
-
16
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M., Hoffman E.P., Bertelson C.J., Monaco A.P., Feener C., Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 50:1987;509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
17
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig M., Beggs A.H., Moyer M., Scherpf S., Heindrich K., Bettecken T.et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 45:1989;498-506.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
Scherpf, S.4
Heindrich, K.5
Bettecken, T.6
-
18
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlation
-
Hu X.Y., Ray P.N., Murphy E.G., Thompson M.W., Worton R.G. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype/genotype correlation. Am J Hum Genet. 46:1990;682-695.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 682-695
-
-
Hu, X.Y.1
Ray, P.N.2
Murphy, E.G.3
Thompson, M.W.4
Worton, R.G.5
-
19
-
-
0028277482
-
A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron
-
Galvagni F., Saad F.A., Danieli G.A., Miorin M., Vitiello L., Mostacciuolo M.L.et al. A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron. Hum Genet. 94:1994;33-87.
-
(1994)
Hum Genet
, vol.94
, pp. 33-87
-
-
Galvagni, F.1
Saad, F.A.2
Danieli, G.A.3
Miorin, M.4
Vitiello, L.5
Mostacciuolo, M.L.6
-
20
-
-
0027092397
-
Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: A high frequency of duplications
-
Hiraishi Y., Kato S., Ishihara T., Takano T. Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. J Med Genet. 29:1992;897-901.
-
(1992)
J Med Genet
, vol.29
, pp. 897-901
-
-
Hiraishi, Y.1
Kato, S.2
Ishihara, T.3
Takano, T.4
-
21
-
-
0026563507
-
Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese patients with Duchenne muscular dystrophy
-
Kitoh Y., Matsuo M., Nishio H., Takumi T., Nakajima T., Masumura T.et al. Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese patients with Duchenne muscular dystrophy. Am J Med Genet. 42:1992;453-457.
-
(1992)
Am J Med Genet
, vol.42
, pp. 453-457
-
-
Kitoh, Y.1
Matsuo, M.2
Nishio, H.3
Takumi, T.4
Nakajima, T.5
Masumura, T.6
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