-
1
-
-
0026522569
-
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene
-
Abbs S, Bobrow M. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 1992: 29: 191-196.
-
(1992)
J Med Genet
, vol.29
, pp. 191-196
-
-
Abbs, S.1
Bobrow, M.2
-
2
-
-
0024580404
-
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
-
Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 1989: 39: 465-474.
-
(1989)
Neurology
, vol.39
, pp. 465-474
-
-
Baumbach, L.L.1
Chamberlain, J.S.2
Ward, P.A.3
Farwell, N.J.4
Caskey, C.T.5
-
3
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletion., by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LN. Detection of 98% of DMD/BMD gene deletion., 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.N.4
-
4
-
-
0017148259
-
A general method for isolation of high molecular weight DNA from eukaryotes
-
Blin V, Stafford DW. A general method for isolation of high molecular weight DNA from eukaryotes. Nucl Acid Res 1976: 3: 2303.
-
(1976)
Nucl Acid Res
, vol.3
, pp. 2303
-
-
Blin, V.1
Stafford, D.W.2
-
5
-
-
0019149708
-
Sporadic occurrence of Duchenne muscular dystrophy; evidence for new mutation
-
Caskey CT, Nussbaum RL, Cohan LC, Pollack L. Sporadic occurrence of Duchenne muscular dystrophy; evidence for new mutation. Clin Genet 1980: 18: 329-341.
-
(1980)
Clin Genet
, vol.18
, pp. 329-341
-
-
Caskey, C.T.1
Nussbaum, R.L.2
Cohan, L.C.3
Pollack, L.4
-
6
-
-
0002503692
-
Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
-
Innis MA, Gelfald DH, Sninski JJ, White TJ, eds. New York: Academic Press
-
Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy In: Innis MA, Gelfald DH, Sninski JJ, White TJ, eds. PCR Protocols: a guide to methods and application. New York: Academic Press, 1990: 272-287.
-
(1990)
PCR Protocols: A Guide to Methods and Application
, pp. 272-287
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Caskey, C.T.4
-
7
-
-
0027195244
-
Patterns of deletions of the dystrophin gene in different European populations
-
Danieli GA, Mioni F, Muller CR, Vitiello L, Mostacciuolo ML, Grimm T. Patterns of deletions of the dystrophin gene in different European populations. Hum Genet 1993: 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
-
-
0023921593
-
Direct method of prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA
-
Darras BT, Koenig M, Kunkel LM, Franke U. Direct method of prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet 1988: 29: 713-716.
-
(1988)
Am J Med Genet
, vol.29
, pp. 713-716
-
-
Darras, B.T.1
Koenig, M.2
Kunkel, L.M.3
Franke, U.4
-
9
-
-
0023194295
-
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels
-
Den Dunnen JT, Bakker E, Klein Breteler EG, Pearson PL, Van Ommen GJB. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 1987: 329: 640-642.
-
(1987)
Nature
, vol.329
, pp. 640-642
-
-
Den Dunnen, J.T.1
Bakker, E.2
Klein Breteler, E.G.3
Pearson, P.L.4
Van Ommen, G.J.B.5
-
11
-
-
0028277482
-
A study on duplications of the dystrophin gene, evidence of a geographical difference in the distribution of breakpoints by intron
-
Galvagni F, Saad FA, Danieli GA. Miorin M, Vitiellow L, Mostaccinolo ML, Angelini C. A study on duplications of the dystrophin gene, evidence of a geographical difference in the distribution of breakpoints by intron. Hum Genet 1994: 94: 83-87.
-
(1994)
Hum Genet
, vol.94
, pp. 83-87
-
-
Galvagni, F.1
Saad, F.A.2
Danieli, G.A.3
Miorin, M.4
Vitiellow, L.5
Mostaccinolo, M.L.6
Angelini, C.7
-
12
-
-
0028256298
-
On the origin of deletions and point mutations in Duchenne muscular dystrophy: Most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
-
Grimm T, Meng T, Liechti-Gallati S, Bettecken T, Muller CR, Muller B. On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J Med Genet 1994: 31: 183-186.
-
(1994)
J Med Genet
, vol.31
, pp. 183-186
-
-
Grimm, T.1
Meng, T.2
Liechti-Gallati, S.3
Bettecken, T.4
Muller, C.R.5
Muller, B.6
-
13
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet. 1935: 31: 317-326.
-
(1935)
J Genet.
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
14
-
-
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 1992: 29: 897-901.
-
(1992)
J Med Genet
, vol.29
, pp. 897-901
-
-
Hiraishi, Y.1
Kato, S.2
Ishihara, T.3
Takano, T.4
-
15
-
-
0024315626
-
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy
-
Hodgson SV, Bobrow M. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. Br Med Bull 1989: 45: 719-744.
-
(1989)
Br Med Bull
, vol.45
, pp. 719-744
-
-
Hodgson, S.V.1
Bobrow, M.2
-
16
-
-
0026728276
-
Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis
-
Ioannou P, Christopoulor G, Panayides K, Kleanthous M, Midetletion L. Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology 1992: 42: 1783-1790.
-
(1992)
Neurology
, vol.42
, pp. 1783-1790
-
-
Ioannou, P.1
Christopoulor, G.2
Panayides, K.3
Kleanthous, M.4
Midetletion, L.5
-
17
-
-
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, Monaco AP, Feener CC, Kunkel LM. 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
Monaco, A.P.4
Feener, C.C.5
Kunkel, L.M.6
-
18
-
-
0025847315
-
Sequences of junction fragments in the deletion-prone region of the dystrophin gene
-
Love DR, England SB, Speer R. Marsden RF, Bloomfield JF, Roche AL, Cross GS, Mountfod RC, Smith TJ, Davies KE. Sequences of junction fragments in the deletion-prone region of the dystrophin gene. Genomics 1991: 10: 57-67.
-
(1991)
Genomics
, vol.10
, pp. 57-67
-
-
Love, D.R.1
England, S.B.2
Speer, R.3
Marsden, R.F.4
Bloomfield, J.F.5
Roche, A.L.6
Cross, G.S.7
Mountfod, R.C.8
Smith, T.J.9
Davies, K.E.10
-
19
-
-
0026545454
-
Multiple mutation in an extended Duchenne muscular dystrophy family
-
Miciak A, Keen A, Jadsel V, Bundey S. Multiple mutation in an extended Duchenne muscular dystrophy family. J Med Genet 1992: 29: 123-126.
-
(1992)
J Med Genet
, vol.29
, pp. 123-126
-
-
Miciak, A.1
Keen, A.2
Jadsel, V.3
Bundey, S.4
-
20
-
-
0028104835
-
Deletions in the 5′ region of dystrophin and resulting phenotypes
-
Muntoni F, Gobbi P, Sewrry C, Sherrett T, Taylor J, Sandhu SK, Abbs S, Robert R, Hodgson SV, Bobrow M. 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
Sewrry, C.3
Sherrett, T.4
Taylor, J.5
Sandhu, S.K.6
Abbs, S.7
Robert, R.8
Hodgson, S.V.9
Bobrow, M.10
-
21
-
-
0026729311
-
A transposon-like element in the deletion-prone region of the dystrophin gene
-
Pizzuti A, Pieretti M, Fenwick RG, Gibbs RA, Caskey CT. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics 1992: 13: 594-600.
-
(1992)
Genomics
, vol.13
, pp. 594-600
-
-
Pizzuti, A.1
Pieretti, M.2
Fenwick, R.G.3
Gibbs, R.A.4
Caskey, C.T.5
-
22
-
-
0029079649
-
Intraspinatus muscle hypertrophy and wasting of axillary folds as the important signs in Duchenne muscular dystrophy
-
Pradhan S, Mittal B. Intraspinatus muscle hypertrophy and wasting of axillary folds as the important signs in Duchenne muscular dystrophy. Clin Neurol Neurosurg 1995: 97: 134-138.
-
(1995)
Clin Neurol Neurosurg
, vol.97
, pp. 134-138
-
-
Pradhan, S.1
Mittal, B.2
-
23
-
-
0026717934
-
Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain
-
Roddie A, Bundey S. Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain. J Med Genet 1992: 29: 555-557.
-
(1992)
J Med Genet
, vol.29
, pp. 555-557
-
-
Roddie, A.1
Bundey, S.2
-
24
-
-
0026629939
-
Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy
-
Schwartz LS, Tarleton J. Popovich B, Seltzer WK, Hoffman EP. 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
Seltzer, W.K.4
Hoffman, E.P.5
-
25
-
-
0002809580
-
Quantitative PCR
-
Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. New York: Academic Press
-
Wang AM, Marls DF. Quantitative PCR. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. PCR protocols: a guide to methods and application. New York: Academic Press, 1990: 70-75.
-
(1990)
PCR Protocols: A Guide to Methods and Application
, pp. 70-75
-
-
Wang, A.M.1
Marls, D.F.2
-
27
-
-
0020679787
-
Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy
-
Williams WR, Thompson MW, Morton NE. Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy. Am J Med Genet 1983: 14: 315-333.
-
(1983)
Am J Med Genet
, vol.14
, pp. 315-333
-
-
Williams, W.R.1
Thompson, M.W.2
Morton, N.E.3
-
29
-
-
0026769085
-
Single strand conformational polymorphism (SSCP): Detection of useful polymorphism at the dystrophin locus
-
Zietkiewicz E, Sinnet D, Richer C, Mitchell G. Vanasse M, Labuda D. Single strand conformational polymorphism (SSCP): detection of useful polymorphism at the dystrophin locus. Hum Genet 1992: 39: 453-456.
-
(1992)
Hum Genet
, vol.39
, pp. 453-456
-
-
Zietkiewicz, E.1
Sinnet, D.2
Richer, C.3
Mitchell, G.4
Vanasse, M.5
Labuda, D.6
|