-
1
-
-
0037892292
-
X-linked dystrophies
-
Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., eds. MacGraw-Hill
-
Worton, R. G. & Brooke, R. H. (1995). X-linked dystrophies. In: The Metabolic and Molecular Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., eds.) pp. 4195-226. MacGraw-Hill.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 4195-4226
-
-
Worton, R.G.1
Brooke, R.H.2
-
2
-
-
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., Bertelson, C., Monaco, A., Feener, C. & Kunkel, L. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-17.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.2
Bertelson, C.3
Monaco, A.4
Feener, C.5
Kunkel, L.6
-
3
-
-
0027289091
-
Genomic organization of exons 22 to 25 of the dystrophin gene
-
Bebchuk, K. G., Bulman, D. E., D'Souza, V. N., Worton, R. G. & Ray, P. N. (1993). Genomic organization of exons 22 to 25 of the dystrophin gene. Human Molecular Genetics 2, 593-4.
-
(1993)
Human Molecular Genetics
, vol.2
, pp. 593-594
-
-
Bebchuk, K.G.1
Bulman, D.E.2
D'Souza, V.N.3
Worton, R.G.4
Ray, P.N.5
-
4
-
-
0027232968
-
Exon structure of the human dystrophin gene
-
Roberts, R. G., Coffey, A. J., Bobrow, M. & Bentley, D. R. (1993). Exon structure of the human dystrophin gene. Genomics 16, 536-8.
-
(1993)
Genomics
, vol.16
, pp. 536-538
-
-
Roberts, R.G.1
Coffey, A.J.2
Bobrow, M.3
Bentley, D.R.4
-
5
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den-Dunnen, J. T., Grootscholten, P. M., Bakker, E. et al. (1989). Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. American Journal of Human Genetics 45, 835-47.
-
(1989)
American Journal of Human Genetics
, vol.45
, pp. 835-847
-
-
Den-Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
-
6
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: Itsfrequency, distribution, origin, and phenotype/genotype correlation
-
Hu, X. Y., Ray, P. N., Murphy, E. G., Thompson, M. W. & Worton, R. G. (1990). Duplicational mutation at the Duchenne muscular dystrophy locus: itsfrequency, distribution, origin, and phenotype/genotype correlation. American Journal of Human Genetics 46, 682-95.
-
(1990)
American Journal of Human Genetics
, 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
-
7
-
-
0024466501
-
The molecular basis for Duchenne versus becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig, M., Beggs, A., Meyer, M. et al. (1989). The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. American Journal of Human Genetics 45, 498-506.
-
(1989)
American Journal of Human Genetics
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.2
Meyer, M.3
-
8
-
-
0024430346
-
Molecular and phenotypic analysis of patients with deletions within the deletion rich region of the Duchenne muscular dystrophy gene
-
Gillard, E., Chamberlain, J., Murphy, E. et al. (1989). Molecular and phenotypic analysis of patients with deletions within the deletion rich region of the Duchenne muscular dystrophy gene. American Journal of Human Genetics 45, 507-20.
-
(1989)
American Journal of Human Genetics
, vol.45
, pp. 507-520
-
-
Gillard, E.1
Chamberlain, J.2
Murphy, E.3
-
9
-
-
0024582198
-
Gene deletions in X-linked muscular dystrophy
-
Lindlof, M., Kiuru, A., Kaariainen, H. et al. (1989). Gene deletions in X-linked muscular dystrophy. American Journal of Human Genetics 44, 496-503.
-
(1989)
American Journal of Human Genetics
, vol.44
, pp. 496-503
-
-
Lindlof, M.1
Kiuru, A.2
Kaariainen, H.3
-
10
-
-
0026720845
-
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study
-
Multicenter Study Group (1992). Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. Journal of the American Medical Association 267, 2609-15.
-
(1992)
Journal of the American Medical Association
, vol.267
, pp. 2609-2615
-
-
-
11
-
-
0026535359
-
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients
-
Vitiello, L., Mustacciuolo, M., Oliviero, S. et al. (1992). Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. Journal of Medical Genetics 29, 127-30.
-
(1992)
Journal of Medical Genetics
, vol.29
, pp. 127-130
-
-
Vitiello, L.1
Mustacciuolo, M.2
Oliviero, S.3
-
12
-
-
0027195244
-
Pattern of deletions of the dystrophin gene in different European populations
-
Danieli, G., Mioni, R., Muller, C., Vitiello, L., Mustacciuolo, M. & Grimm, T. (1993). Pattern of deletions of the dystrophin gene in different European populations. Human Genetics 91, 342-6.
-
(1993)
Human Genetics
, vol.91
, pp. 342-346
-
-
Danieli, G.1
Mioni, R.2
Muller, C.3
Vitiello, L.4
Mustacciuolo, M.5
Grimm, T.6
-
13
-
-
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. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Research 16, 11141-56.
-
(1988)
Nucleic Acids Research
, 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
-
14
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs, A. H., Koenig, M., Boyce, F. M. & Kunkel, L. M. (1990). Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Human Genetics 86, 45-8.
-
(1990)
Human Genetics
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
15
-
-
0025943652
-
Carrier detection and prenatal diagnosis in Duchenne and becker muscular dystrophy families, using dinucleotide repeat polymorphisms
-
Clemens, P. R., Fenwick, R. G., Chamberlain, J. S. et al. (1991). Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. American Journal of Human Genetics 49, 951-60.
-
(1991)
American Journal of Human Genetics
, vol.49
, pp. 951-960
-
-
Clemens, P.R.1
Fenwick, R.G.2
Chamberlain, J.S.3
-
16
-
-
0025968910
-
Rapid detection of CA polymorphisms in cloned DNA: Application to the 5′ region of the dystrophin gene
-
Feener, C. A., Boyce, F. M. & Kunkel, L. M. (1991). Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the dystrophin gene. American Journal of Human Genetics 48, 621-7.
-
(1991)
American Journal of Human Genetics
, vol.48
, pp. 621-627
-
-
Feener, C.A.1
Boyce, F.M.2
Kunkel, L.M.3
-
17
-
-
0025859094
-
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD)
-
Hugnot, J. P., Recan, D., Jeanpierre, M., Kaplan, J. C. & Tolun, A. (1991). A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD). Nucleic Acids Research 19, 3159.
-
(1991)
Nucleic Acids Research
, vol.19
, pp. 3159
-
-
Hugnot, J.P.1
Recan, D.2
Jeanpierre, M.3
Kaplan, J.C.4
Tolun, A.5
-
18
-
-
0026343294
-
Nonradioactive assay for new microsatellite polymorphisms at the 5′ end of the dystrophin gene, and estimation of intragenic recombination
-
Oudet, C., Heilig, R., Hanauer, A. & Mandel, J. L. (1991). Nonradioactive assay for new microsatellite polymorphisms at the 5′ end of the dystrophin gene, and estimation of intragenic recombination. American Journal of Human Genetics 49, 311-19.
-
(1991)
American Journal of Human Genetics
, vol.49
, pp. 311-319
-
-
Oudet, C.1
Heilig, R.2
Hanauer, A.3
Mandel, J.L.4
-
19
-
-
0026096633
-
A dinucleotide repeat polymorphism at the DMD locus
-
Powell, J. F., Fodor, F. H., Cockburn, D. J., Monaco, A. P. & Craig, I. W. (1991). A dinucleotide repeat polymorphism at the DMD locus. Nucleic Acids Research 19, 1159.
-
(1991)
Nucleic Acids Research
, vol.19
, pp. 1159
-
-
Powell, J.F.1
Fodor, F.H.2
Cockburn, D.J.3
Monaco, A.P.4
Craig, I.W.5
-
20
-
-
0026640554
-
Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy
-
Miller, M., Boehm, C., Cotton, M. & Kazazian, H., Jr. (1992). Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy. American Journal of Medical Genetics 44, 473-6.
-
(1992)
American Journal of Medical Genetics
, vol.44
, pp. 473-476
-
-
Miller, M.1
Boehm, C.2
Cotton, M.3
Kazazian H., Jr.4
-
21
-
-
0026950937
-
Two hot-spots of recombination in the DMD gene correlate with the deletion prone regions
-
Oudet, C., Hanauer, A., Clemens, P., Caskey, C. T. & Mandel, J. L. (1992). Two hot-spots of recombination in the DMD gene correlate with the deletion prone regions. Human Molecular Genetics 1, 599-603.
-
(1992)
Human Molecular Genetics
, vol.1
, pp. 599-603
-
-
Oudet, C.1
Hanauer, A.2
Clemens, P.3
Caskey, C.T.4
Mandel, J.L.5
-
22
-
-
0025690817
-
Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides
-
Prior, T. W., Papp, A. C., Snyder, P. J. et al. (1990). Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides. Clinical Chemistry 36, 2113-17.
-
(1990)
Clinical Chemistry
, vol.36
, pp. 2113-2117
-
-
Prior, T.W.1
Papp, A.C.2
Snyder, P.J.3
-
23
-
-
0026200683
-
Precise gene dosage determination by polymerase chain reaction: Theory, methodology, and statistical approach
-
Lubin, M. B., Elashoff, J. D., Wang, S. J., Rotter, J. I. & Toyoda, H. (1991). Precise gene dosage determination by polymerase chain reaction: theory, methodology, and statistical approach. Molecular and Cellular Probes 5, 307-17.
-
(1991)
Molecular and Cellular Probes
, vol.5
, pp. 307-317
-
-
Lubin, M.B.1
Elashoff, J.D.2
Wang, S.J.3
Rotter, J.I.4
Toyoda, H.5
-
24
-
-
0026522569
-
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene
-
Abbs, S. & Bobrow, M. (1992). Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. Journal of Medical Genetics 29, 191-6.
-
(1992)
Journal of Medical Genetics
, vol.29
, pp. 191-196
-
-
Abbs, S.1
Bobrow, M.2
-
25
-
-
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. (1992). Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. Journal of Medical Genetics 29, 897-901.
-
(1992)
Journal of Medical Genetics
, vol.29
, pp. 897-901
-
-
Hiraishi, Y.1
Kato, S.2
Ishihara, T.3
Takano, T.4
-
26
-
-
0026728276
-
Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis
-
Ioannou, P., Christopoulos, G., Panayides, K., Kleanthous, M. & Middleton, L. (1992). Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology 42, 1783-90.
-
(1992)
Neurology
, vol.42
, pp. 1783-1790
-
-
Ioannou, P.1
Christopoulos, G.2
Panayides, K.3
Kleanthous, M.4
Middleton, L.5
-
27
-
-
0026747618
-
Carrier detection of Duchenne/Becker muscular dystrophy: Computer-assisted direct quantitation of gene amplification products
-
Ishii, K., Sakuraba, H., Minamikawa-Tachino, R., Shimmoto, M. & Suzuki, Y. (1992). Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products. Brain Development 14, 80-3.
-
(1992)
Brain Development
, vol.14
, pp. 80-83
-
-
Ishii, K.1
Sakuraba, H.2
Minamikawa-Tachino, R.3
Shimmoto, M.4
Suzuki, Y.5
-
28
-
-
0026629939
-
Fluorescent multiplex linkage analysis and carrier detection for Duchenne/ Becker muscular dystrophy
-
Schwartz, L. S., Tarleton, J., Popovich, B., Seltzer, W. K. & Hoffman, E. P. (1992). Fluorescent multiplex linkage analysis and carrier detection for Duchenne/ Becker muscular dystrophy. American Journal of Human Genetics 51, 721-9.
-
(1992)
American Journal of Human Genetics
, vol.51
, pp. 721-729
-
-
Schwartz, L.S.1
Tarleton, J.2
Popovich, B.3
Seltzer, W.K.4
Hoffman, E.P.5
-
29
-
-
0028156943
-
Detection of carriers of deletions in the dystrophin gene in bulgarian DMD-BMD families
-
Bronzova, J., Todorova, A. & Kalaydjieva, L. (1994). Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families. Human Genetics 93, 170-4.
-
(1994)
Human Genetics
, vol.93
, pp. 170-174
-
-
Bronzova, J.1
Todorova, A.2
Kalaydjieva, L.3
-
30
-
-
0028309541
-
Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies
-
Fassati, A., Tedeschi, S., Bordoni, A. et al. (1994). Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies. Lancet 344, 302-3.
-
(1994)
Lancet
, vol.344
, pp. 302-303
-
-
Fassati, A.1
Tedeschi, S.2
Bordoni, A.3
-
32
-
-
0027138360
-
Duchenne/Becker muscular dystrophy carrier detection using quantitative pcr and fluorescence-based strategies
-
Mansfield, E. S., Robertson, J. M., Lebo, R. V. et al. (1993). Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. American Journal of Medical Genetics 48, 200-8.
-
(1993)
American Journal of Medical Genetics
, vol.48
, pp. 200-208
-
-
Mansfield, E.S.1
Robertson, J.M.2
Lebo, R.V.3
|