-
1
-
-
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 EP, Bertelson CJ et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
2
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig M, Beggs AH, Moyer M et al. The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 1989; 45: 498-506.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
-
3
-
-
0027470203
-
The structural and functional diversity of dystrophin
-
Ahn AH, Kunkel LM. The structural and functional diversity of dystrophin. Nature Genet 1993; 3: 283-291.
-
(1993)
Nature Genet
, vol.3
, pp. 283-291
-
-
Ahn, A.H.1
Kunkel, L.M.2
-
4
-
-
0027249415
-
Integrated study of 100 patients with Wp 21-linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2: Correlation within individual patients
-
Nicholson LVB, Johnson MA, Bushby KMD et al. Integrated study of 100 patients with Wp 21-linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2: Correlation within individual patients. J Med Genet 1993; 30: 737-744.
-
(1993)
J Med Genet
, vol.30
, pp. 737-744
-
-
Nicholson, L.V.B.1
Johnson, M.A.2
Bushby, K.M.D.3
-
5
-
-
0023957073
-
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
-
Forrest SM, Cross GS, Flint T et al. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 1988; 2: 109-114.
-
(1988)
Genomics
, vol.2
, pp. 109-114
-
-
Forrest, S.M.1
Cross, G.S.2
Flint, T.3
-
6
-
-
0024430346
-
Molecular and phenotypic analysis of patient with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
-
Gillard EF, Chamberlain JS, Murphy EG et al. Molecular and phenotypic analysis of patient with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 1989; 45: 507-520
-
(1989)
Am J Hum Genet
, vol.45
, pp. 507-520
-
-
Gillard, E.F.1
Chamberlain, J.S.2
Murphy, E.G.3
-
7
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveal 115 deletions and 13 duplications
-
den Dunnen JT, Grootscholten PM, Bakker E et al. 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 1989; 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
-
8
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Gallati S et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988; 2: 90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
-
9
-
-
0025647598
-
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
-
Chelly J, Gilgenkrantz H, Lambert M et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 1990; 63: 1239-1248.
-
(1990)
Cell
, vol.63
, pp. 1239-1248
-
-
Chelly, J.1
Gilgenkrantz, H.2
Lambert, M.3
-
10
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies
-
Beggs AH, Hoffman EP, Snyder JR et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies. Am J Hum Genet 1991; 49: 54-68.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 54-68
-
-
Beggs, A.H.1
Hoffman, E.P.2
Snyder, J.R.3
-
11
-
-
0023812570
-
Frameshift deletions in patients with Duchenne and Becker muscular dystrophy
-
Malhotra SB, Hart KA, Klamut HJ et al. Frameshift deletions in patients with Duchenne and Becker muscular dystrophy. Science 1988; 242: 755-759.
-
(1988)
Science
, vol.242
, pp. 755-759
-
-
Malhotra, S.B.1
Hart, K.A.2
Klamut, H.J.3
-
12
-
-
0027207248
-
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
-
Winnard AV, Klein CJ, Coovert DD et al. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Molec Genet 1993; 2: 737-744.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 737-744
-
-
Winnard, A.V.1
Klein, C.J.2
Coovert, D.D.3
-
13
-
-
0029810520
-
Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?
-
Fanin M, Freda MP, Vitiello L et al. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size? Muscle Nerve 1996; 19: 1154-1160.
-
(1996)
Muscle Nerve
, vol.19
, pp. 1154-1160
-
-
Fanin, M.1
Freda, M.P.2
Vitiello, L.3
-
14
-
-
0028101457
-
Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype
-
Takeshima Y, Nishio H, Narita N et al. Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype. Neurology 1994; 44: 1648-1651.
-
(1994)
Neurology
, vol.44
, pp. 1648-1651
-
-
Takeshima, Y.1
Nishio, H.2
Narita, N.3
-
15
-
-
0028104835
-
Deletions in the 5′ region of dystrophin and resulting phenotypes
-
Muntoni F, Gobbi P, Sewry C et al. Deletions in the 5′ region of dystrophin and resulting phenotypes. J Med Genet 1994; 31: 843-847.
-
(1994)
J Med Genet
, vol.31
, pp. 843-847
-
-
Muntoni, F.1
Gobbi, P.2
Sewry, C.3
-
16
-
-
0029980073
-
A Japanese boy with myalgia and cramps has a novel in-frame deletion of the dystrophin gene
-
Ishigaki C, Patria SY, Nishio H et al. A Japanese boy with myalgia and cramps has a novel in-frame deletion of the dystrophin gene. Neurology 1996; 46: 1347-1350.
-
(1996)
Neurology
, vol.46
, pp. 1347-1350
-
-
Ishigaki, C.1
Patria, S.Y.2
Nishio, H.3
-
17
-
-
0027265702
-
Brief report: Deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomiopathy
-
Muntoni F, Cau M, Ganau A et al. Brief report: deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomiopathy. New Engl J Med 1993; 329: 921-925.
-
(1993)
New Engl J Med
, vol.329
, pp. 921-925
-
-
Muntoni, F.1
Cau, M.2
Ganau, A.3
-
18
-
-
0027198775
-
Exercise intolerance and recurrent mycoglobinuria as the only expression of Xp21 Becker type muscular dystrophy
-
Doriguzzi C, Palmucci L, Mongini T et al. Exercise intolerance and recurrent mycoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. J Neurol 1993; 240: 269-271.
-
(1993)
J Neurol
, vol.240
, pp. 269-271
-
-
Doriguzzi, C.1
Palmucci, L.2
Mongini, T.3
-
19
-
-
0025162297
-
A normal male with an inherited deletion of one exon within the DMD gene
-
Nordenskjold M, Nicholson L, Edstrom L et al. A normal male with an inherited deletion of one exon within the DMD gene. Hum Genet 1990; 84: 207-209.
-
(1990)
Hum Genet
, vol.84
, pp. 207-209
-
-
Nordenskjold, M.1
Nicholson, L.2
Edstrom, L.3
-
20
-
-
0028456702
-
An inherited dystrophin deletion without muscle weakness
-
Collins AL, Leyland KG, Kennedy CR et al. An inherited dystrophin deletion without muscle weakness. [letter] J Med Genet 1994; 31: 505.
-
(1994)
J Med Genet
, vol.31
, pp. 505
-
-
Collins, A.L.1
Leyland, K.G.2
Kennedy, C.R.3
-
21
-
-
0028222944
-
Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene
-
Palmucci L, Doriguzzi C, Mongini T et al. Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene. Neurology 1994; 44: 541-543.
-
(1994)
Neurology
, vol.44
, pp. 541-543
-
-
Palmucci, L.1
Doriguzzi, C.2
Mongini, T.3
-
24
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 23: 11141-11156.
-
(1988)
Nucleic Acids Res
, vol.23
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
-
25
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86: 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
-
26
-
-
0025738298
-
Genotype-phenotype correlation and germline mosaicism in DMD/ BMD patients with deletions of the dystrophin gene
-
Covone AE, Lerone M, Romeo G. Genotype-phenotype correlation and germline mosaicism in DMD/ BMD patients with deletions of the dystrophin gene. Hum Genet 1991; 87: 353-360.
-
(1991)
Hum Genet
, vol.87
, pp. 353-360
-
-
Covone, A.E.1
Lerone, M.2
Romeo, G.3
-
27
-
-
0026629939
-
Fluorescent multiplex linkage analysis and carrier detection for Duchenne-Becker muscular dystrophy
-
Schwartz LS, Tarleton J, Popovich B et al. Fluorescent multiplex linkage analysis and carrier detection for Duchenne-Becker muscular dystrophy. Am J Hum Genet 1992; 51: 721-729.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 721-729
-
-
Schwartz, L.S.1
Tarleton, J.2
Popovich, B.3
-
28
-
-
0026343877
-
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
-
Roberts RG, Barby TFM, Manners E et al. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 1991; 49: 298-310.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 298-310
-
-
Roberts, R.G.1
Barby, T.F.M.2
Manners, E.3
-
30
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker Muscular Dystrophy: Dystrophin gene and protein studies
-
Beggs AH, Hoffman EP, Snyder JR et al. Exploring the molecular basis for variability among patients with Becker Muscular Dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991; 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
-
31
-
-
0027432042
-
Mild deficiency of dystrophin associated proteins in Becker muscular dystrophy patients having inframe deletions in the rod-domain of dystrophin
-
Matsumura K, Nonaka. I, Tomè FMS et al. Mild deficiency of dystrophin associated proteins in Becker muscular dystrophy patients having inframe deletions in the rod-domain of dystrophin. Am J Hum Genet 1993; 53: 409-416.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 409-416
-
-
Matsumura, K.1
Nonaka, I.2
Tomè, F.M.S.3
-
32
-
-
14444268277
-
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
-
Muntoni F, Di Lenarda A, Porcu M et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart 1997; 78: 608-612.
-
(1997)
Heart
, vol.78
, pp. 608-612
-
-
Muntoni, F.1
Di Lenarda, A.2
Porcu, M.3
-
33
-
-
0027483791
-
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
-
Vainzof M, Passos-Bueno MR, Takata RI et al. Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype. J Neural Sci 1993; 119: 38-42.
-
(1993)
J Neural Sci
, vol.119
, pp. 38-42
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Takata, R.I.3
-
34
-
-
0027278997
-
Two distinct mutations in a single dystrophin gene: Identification of an altered splice-site as the primary Becker muscular dystrophy mutation
-
Wilton SD, Johnsen RD, Pedrettoi JR, Laing NG. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation. Am J Med Genet 1993; 46: 563-569.
-
(1993)
Am J Med Genet
, vol.46
, pp. 563-569
-
-
Wilton, S.D.1
Johnsen, R.D.2
Pedrettoi, J.R.3
Laing, N.G.4
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