-
1
-
-
0002073407
-
Duchenne Muscular Dystrophy
-
Rimoin DL, Connor JM, Pyeritz RE, eds. New York: Churchill-Livingstone
-
Emery AEH. Duchenne Muscular Dystrophy. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principles and Practice of Medical Genetics, New York: Churchill-Livingstone, 1996: pp. 2337-2354
-
(1996)
Principles and Practice of Medical Genetics
, pp. 2337-2354
-
-
Emery, A.E.H.1
-
2
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LAJ, Ginjaar HB, Wapenaar MC, van Paasen HMB, van Broeckhoven C, Pearson PL, van Ommen GJB. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 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
Blonden, L.A.J.4
Ginjaar, H.B.5
Wapenaar, M.C.6
Van Paasen, H.M.B.7
Van Broeckhoven, C.8
Pearson, P.L.9
Van Ommen, G.J.B.10
-
3
-
-
0024466501
-
The molecular bases for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, de la Chapelle A, Kiuru A, Savontaus ML, Gilgenkrantz H, Récan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gallati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LAJ, van Passen HMB, van Ommen GJB, Kunkel LM. The molecular bases 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
Scherpf, S.4
Heindrich, K.5
Bettecken, T.6
Meng, G.7
Müller, C.R.8
Lindlöf, M.9
Kaariainen, H.10
De La Chapelle, A.11
Kiuru, A.12
Savontaus, M.L.13
Gilgenkrantz, H.14
Récan, D.15
Chelly, 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 Passen, H.M.B.34
Van Ommen, G.J.B.35
Kunkel, L.M.36
more..
-
4
-
-
0028084292
-
Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular distrophy patients
-
Shomrat R, Gluck E, Legum C, Shiloh Y. Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular distrophy patients. Am J Med Genet 1994; 49: 369-373
-
(1994)
Am J Med Genet
, vol.49
, pp. 369-373
-
-
Shomrat, R.1
Gluck, E.2
Legum, C.3
Shiloh, Y.4
-
5
-
-
0026563507
-
Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy
-
Kitoh Y, Matsuo M, Nishio H, Takumi T, Nakajima T, Matsumura T, Koga J, Nakamura H. Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy. Am J Med Genet 1992; 42: 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
Matsumura, T.6
Koga, J.7
Nakamura, H.8
-
6
-
-
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
-
7
-
-
0002503692
-
Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
-
Innes MA, Gelfand DH, Sninski JJ, White TJ, eds. San Diego: Academic Press
-
Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: Innes MA, Gelfand DH, Sninski JJ, White TJ, eds. PCR Protocols, San Diego: Academic Press, 1990: pp. 272-281
-
(1990)
PCR Protocols
, pp. 272-281
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Caskey, C.T.4
-
8
-
-
0025774523
-
A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNa hybridization shows mistypings with both methods
-
Abbs S, Yan SC, Clark S, Mathew CG, Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridization shows mistypings with both methods. J Med Genet 1991; 28: 304-311
-
(1991)
J Med Genet
, vol.28
, pp. 304-311
-
-
Abbs, S.1
Yan, S.C.2
Clark, S.3
Mathew, C.G.4
Bobrow, M.5
-
9
-
-
0023100666
-
DNA deletion in mild and severe Becker muscular dystrophy
-
Hart KA, Hodgson S, Walker A, Cole CG, Johnson L, Dubowitz V, Bobrow M. DNA deletion in mild and severe Becker muscular dystrophy. Hum Genet 1987; 75: 281-285
-
(1987)
Hum Genet
, vol.75
, pp. 281-285
-
-
Hart, K.A.1
Hodgson, S.2
Walker, A.3
Cole, C.G.4
Johnson, L.5
Dubowitz, V.6
Bobrow, M.7
-
10
-
-
0024582198
-
Gene deletions in X-linked muscular dystrophy
-
Lindoff M, Kuiru A, Kaariainen H, Kalimo H, Lang H, Pihko H, Rapola J, Somer H, Somer M, Savontaus ML, de la Chapelle A. Gene deletions in X-linked muscular dystrophy. Am J Hum Genet 1989; 44: 496-503
-
(1989)
Am J Hum Genet
, vol.44
, pp. 496-503
-
-
Lindoff, M.1
Kuiru, A.2
Kaariainen, H.3
Kalimo, H.4
Lang, H.5
Pihko, H.6
Rapola, J.7
Somer, H.8
Somer, M.9
Savontaus, M.L.10
De La Chapelle, A.11
-
11
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletion of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletion 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
Moser, H.4
Kunkel, L.M.5
-
12
-
-
0025231332
-
Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a and Cf115
-
Passos-Bueno MR, Rapaport D, Love D, Flint T, Bortolini ER, Zatz M, Davies KE. Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a and Cf115. J Med Genet 1990; 27: 145-150
-
(1990)
J Med Genet
, vol.27
, pp. 145-150
-
-
Passos-Bueno, M.R.1
Rapaport, D.2
Love, D.3
Flint, T.4
Bortolini, E.R.5
Zatz, M.6
Davies, K.E.7
-
13
-
-
0030963078
-
Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients
-
Coral-Vázquez R, Arenas D, Cisneros B, Peñaloza L, Salamanca F, Kofman S, Mercado R, Montañez C. Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients. Am J Med Genet 1997; 70: 240-246
-
(1997)
Am J Med Genet
, vol.70
, pp. 240-246
-
-
Coral-Vázquez, R.1
Arenas, D.2
Cisneros, B.3
Peñaloza, L.4
Salamanca, F.5
Kofman, S.6
Mercado, R.7
Montañez, C.8
-
15
-
-
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 C, 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.5
Kunkel, L.M.6
-
16
-
-
0023745057
-
Lntragenic deletions in 21 Duchenne Muscular Dystrophy (DMD)/ Becker Muscular Dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on Hind III and Bgl II exon-containing fragment maps, meiotic and mitotic origin of the mutations
-
Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U. lntragenic deletions in 21 Duchenne Muscular Dystrophy (DMD)/ Becker Muscular Dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on Hind III and Bgl II exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 1988; 43: 620-629
-
(1988)
Am J Hum Genet
, vol.43
, pp. 620-629
-
-
Darras, B.T.1
Blattner, P.2
Harper, J.F.3
Spiro, A.J.4
Alter, S.5
Francke, U.6
-
18
-
-
0028104835
-
Deletions in the 5′ region of dystrophin and resulting phenotypes
-
Muntoni F, Gobbi P, Sewry C, Sherratt T, Taylor J, Sandhu SgK, Abbs S, Roberts R, Hodgson SV, Bobrow M, Dubowitz V. 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
Sherratt, T.4
Taylor, J.5
Sandhu, Sg.K.6
Abbs, S.7
Roberts, R.8
Hodgson, S.V.9
Bobrow, M.10
Dubowitz, V.11
-
19
-
-
0028833771
-
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: Mechanism of dystrophin production
-
Winnard AV, Mendell JR, Prior TW, Florence J, Burghes AHM. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: Mechanism of dystrophin production. Am J Hum Genet 1995; 56: 158-166
-
(1995)
Am J Hum Genet
, vol.56
, pp. 158-166
-
-
Winnard, A.V.1
Mendell, J.R.2
Prior, T.W.3
Florence, J.4
Burghes, A.H.M.5
-
20
-
-
0025943652
-
Carrier detection and prenatal diagnosis in Duchenne muscular dystrophy families, using dinucleotide repeat polymorphisms
-
Clemens PR, Fenwick RC, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT. Carrier detection and prenatal diagnosis in Duchenne muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991; 49: 951-960
-
(1991)
Am J Hum Genet
, vol.49
, pp. 951-960
-
-
Clemens, P.R.1
Fenwick, R.C.2
Chamberlain, J.S.3
Gibbs, R.A.4
De Andrade, M.5
Chakraborty, R.6
Caskey, C.T.7
-
21
-
-
0028940944
-
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece
-
Florentin L, Mavrou A, Kekou K, Metaxotou C. Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. J Med Genet 1995; 32: 48-51
-
(1995)
J Med Genet
, vol.32
, pp. 48-51
-
-
Florentin, L.1
Mavrou, A.2
Kekou, K.3
Metaxotou, C.4
-
22
-
-
0030902802
-
A patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum
-
Baranzini SE, del Rey G, Nigro N, Szijan I, Chamoles N, Cresto JC. A patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum. Am J Med Genet 1997; 70: 216-221
-
(1997)
Am J Med Genet
, vol.70
, pp. 216-221
-
-
Baranzini, S.E.1
Del Rey, G.2
Nigro, N.3
Szijan, I.4
Chamoles, N.5
Cresto, J.C.6
-
23
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988; 53: 219-228
-
(1988)
Cell
, vol.53
, pp. 219-228
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
24
-
-
0026556239
-
Deletion, duplication and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophy
-
Lao YL, Srivastava G, Wong V, Liu YT, Ho Fes, Yeung CY. Deletion, duplication and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophy. Clin Genet 1992; 41: 252-258
-
(1992)
Clin Genet
, vol.41
, pp. 252-258
-
-
Lao, Y.L.1
Srivastava, G.2
Wong, V.3
Liu, Y.T.4
Fes, H.5
Yeung, C.Y.6
-
25
-
-
0029153184
-
Genomic organization of the human dystrophin gene across the major deletion hot spot and 3′ region
-
Mobile C, Galvagni F, Marchi J, Roberts R, Vitiello L. Genomic organization of the human dystrophin gene across the major deletion hot spot and 3′ region. Genomics 1995; 28: 97-100
-
(1995)
Genomics
, vol.28
, pp. 97-100
-
-
Mobile, C.1
Galvagni, F.2
Marchi, J.3
Roberts, R.4
Vitiello, L.5
-
26
-
-
2642700757
-
Comparison of genetic attribute among Argentina caucasoid and aboriginal populations by means of eight STRs reveals significant difference
-
Sala A, Penacino G, Corach D. Comparison of genetic attribute among Argentina caucasoid and aboriginal populations by means of eight STRs reveals significant difference. Human Biology 1998; 70: 5
-
(1998)
Human Biology
, vol.70
, pp. 5
-
-
Sala, A.1
Penacino, G.2
Corach, D.3
-
27
-
-
0030880391
-
Four new polymorphisms in the human dystrophin gene found in Argentinian population
-
Baranzini SE, Lenk U, Szijan I, Speer A. Four new polymorphisms in the human dystrophin gene found in Argentinian population. Muscle & Nerve 1997; 20: 1451-1453
-
(1997)
Muscle & Nerve
, vol.20
, pp. 1451-1453
-
-
Baranzini, S.E.1
Lenk, U.2
Szijan, I.3
Speer, A.4
-
28
-
-
0027195244
-
Patterns of deletions of the dystrophin gene in different European populations
-
Danielli GA, Mioni F, Muller GR, Vitiello L, Mostacciulo 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
-
-
Danielli, G.A.1
Mioni, F.2
Muller, G.R.3
Vitiello, L.4
Mostacciulo, M.L.5
Grimm, T.6
-
29
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanism of mutagenesis and the role of the local DNA sequence environment
-
Krawczak M, Cooper DN. Gene deletions causing human genetic disease: Mechanism of mutagenesis and the role of the local DNA sequence environment. Hum Genet 1991; 86: 425-441
-
(1991)
Hum Genet
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
30
-
-
0026621608
-
Association of dystrophin-related protein with dystrophin associated proteins in mdx mouse muscle
-
Matsumura K, Evrasti JM, Ohlendieck K, Kahl SD, Cambell KP. Association of dystrophin-related protein with dystrophin associated proteins in mdx mouse muscle. Nature 1992; 360: 588-591
-
(1992)
Nature
, vol.360
, pp. 588-591
-
-
Matsumura, K.1
Evrasti, J.M.2
Ohlendieck, K.3
Kahl, S.D.4
Cambell, K.P.5
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