-
1
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs A.H., Koenig M., Boyce F.M., and 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
-
2
-
-
2942523954
-
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
-
Bennett R.R., den Dunnen J., O'Brien K.F., Darras B.T., and Kunkel L.M. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2 (2001) 17
-
(2001)
BMC Genet.
, vol.2
, pp. 17
-
-
Bennett, R.R.1
den Dunnen, J.2
O'Brien, K.F.3
Darras, B.T.4
Kunkel, L.M.5
-
3
-
-
13444257350
-
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide
-
Buzin C.H., Feng J., Yan J., Scaringe W., Liu Q., den Dunnen J., Mendell J.R., and Sommer S.S. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Hum. Mutat. 25 (2005) 177-188
-
(2005)
Hum. Mutat.
, vol.25
, pp. 177-188
-
-
Buzin, C.H.1
Feng, J.2
Yan, J.3
Scaringe, W.4
Liu, Q.5
den Dunnen, J.6
Mendell, J.R.7
Sommer, S.S.8
-
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., and Caskey C.T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucl. Acids Res. 9 16 (1988) 11141-11156
-
(1988)
Nucl. Acids Res.
, vol.9
, Issue.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
-
-
0031051628
-
Double-gradient DGGE for optimized detection of DNA point mutations
-
Cremonesi L., Firpo S., Ferrari M., Righetti P.G., and Gelfi C. Double-gradient DGGE for optimized detection of DNA point mutations. Biotechniques 22 (1997) 326-330
-
(1997)
Biotechniques
, vol.22
, pp. 326-330
-
-
Cremonesi, L.1
Firpo, S.2
Ferrari, M.3
Righetti, P.G.4
Gelfi, C.5
-
6
-
-
0028263557
-
Expression of cell adhesion molecules in inflammatory myopathies and Duchenne dystrophy
-
De Bleecker J.L., and Engel A.G. Expression of cell adhesion molecules in inflammatory myopathies and Duchenne dystrophy. J. Neuropathol. Exp. Neurol. 53 (1994) 369-376
-
(1994)
J. Neuropathol. Exp. Neurol.
, vol.53
, pp. 369-376
-
-
De Bleecker, J.L.1
Engel, A.G.2
-
7
-
-
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., Blonden L.A., Ginjaar H.B., Wapenaar M.C., van Paassen H.M., van Broeckhoven C., Pearson P.L., and van Ommen G.J. 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. 45 (1989) 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.4
Ginjaar, H.B.5
Wapenaar, M.C.6
van Paassen, H.M.7
van Broeckhoven, C.8
Pearson, P.L.9
van Ommen, G.J.10
-
8
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti J.M., and Campbell K.P. Membrane organization of the dystrophin-glycoprotein complex. Cell 20 66 (1991) 1121-1131
-
(1991)
Cell
, vol.20
, Issue.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
9
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti J.M., and Campbell K.P. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J. Cell. Biol. 122 (1993) 809-823
-
(1993)
J. Cell. Biol.
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
10
-
-
0036396662
-
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy
-
Feng J., Yan J., Buzin C.H., Towbin J.A., and Sommer S.S. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol. Genet. Metab. 77 (2002) 119-126
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 119-126
-
-
Feng, J.1
Yan, J.2
Buzin, C.H.3
Towbin, J.A.4
Sommer, S.S.5
-
11
-
-
0037384644
-
Rapid direct sequence analysis of the dystrophin gene
-
Flanigan K.M., von Niederhausern A., Dunn D.M., Alder J., Mendell J.R., and Weiss R.B. Rapid direct sequence analysis of the dystrophin gene. Am. J. Hum. Genet. 72 (2003) 931-939
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 931-939
-
-
Flanigan, K.M.1
von Niederhausern, A.2
Dunn, D.M.3
Alder, J.4
Mendell, J.R.5
Weiss, R.B.6
-
12
-
-
0023957073
-
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
-
Forrest S.M., Cross G.S., Flint T., Speer A., Robson K.J., and Davies K.E. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 2 (1988) 109-114
-
(1988)
Genomics
, vol.2
, pp. 109-114
-
-
Forrest, S.M.1
Cross, G.S.2
Flint, T.3
Speer, A.4
Robson, K.J.5
Davies, K.E.6
-
13
-
-
20344366588
-
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
-
Gatta V., Scarciolla O., Gaspari A.R., Palka C., De Angelis M.V., Di Muzio A., Guanciali-Franchi P., Calabrese G., Uncini A., and Stuppia L. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum. Genet. 117 (2005) 92-98
-
(2005)
Hum. Genet.
, vol.117
, pp. 92-98
-
-
Gatta, V.1
Scarciolla, O.2
Gaspari, A.R.3
Palka, C.4
De Angelis, M.V.5
Di Muzio, A.6
Guanciali-Franchi, P.7
Calabrese, G.8
Uncini, A.9
Stuppia, L.10
-
14
-
-
30344482510
-
Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection
-
Hamed S.A., and Hoffman E.P. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. Am. J. Med. Genet. B: Neuropsychiatr. Genet. 5 141 (2006) 44-50
-
(2006)
Am. J. Med. Genet. B: Neuropsychiatr. Genet.
, vol.5
, Issue.141
, pp. 44-50
-
-
Hamed, S.A.1
Hoffman, E.P.2
-
15
-
-
9144231281
-
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients
-
Hofstra R.M., Mulder I.M., Vossen R., de Koning-Gans P.A., Kraak M., Ginjaar I.B., van der Hout A.H., Bakker E., Buys C.H., van Ommen G.J., van Essen A.J., and den Dunnen J.T. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum. Mutat. 23 (2004) 57-66
-
(2004)
Hum. Mutat.
, vol.23
, pp. 57-66
-
-
Hofstra, R.M.1
Mulder, I.M.2
Vossen, R.3
de Koning-Gans, P.A.4
Kraak, M.5
Ginjaar, I.B.6
van der Hout, A.H.7
Bakker, E.8
Buys, C.H.9
van Ommen, G.J.10
van Essen, A.J.11
den Dunnen, J.T.12
-
16
-
-
0023614188
-
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
-
Hoffman E.P., Brown Jr. R.H., and Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 24 51 (1987) 919-928
-
(1987)
Cell
, vol.24
, Issue.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown Jr., R.H.2
Kunkel, L.M.3
-
17
-
-
15444370412
-
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
-
Janssen B., Hartmann C., Scholz V., Jauch A., and Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6 (2005) 29-35
-
(2005)
Neurogenetics
, vol.6
, pp. 29-35
-
-
Janssen, B.1
Hartmann, C.2
Scholz, V.3
Jauch, A.4
Zschocke, J.5
-
18
-
-
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., Meng G., Muller C.R., Lindlof M., and Kaariainen H. 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
Meng, G.7
Muller, C.R.8
Lindlof, M.9
Kaariainen, H.10
-
19
-
-
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., and 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
-
20
-
-
0032915812
-
Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity
-
940-942
-
Liu Q., Feng J., Buzin C., Wen C., Nozari G., Mengos A., Nguyen V., Liu J., Crawford L., Fujimura F.K., and Sommer S.S. Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques 26 932 (1999) 936-938 940-942
-
(1999)
Biotechniques
, vol.26
, Issue.932
, pp. 936-938
-
-
Liu, Q.1
Feng, J.2
Buzin, C.3
Wen, C.4
Nozari, G.5
Mengos, A.6
Nguyen, V.7
Liu, J.8
Crawford, L.9
Fujimura, F.K.10
Sommer, S.S.11
-
21
-
-
0035964228
-
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
-
Mendell J.R., Buzin C.H., Feng J., Yan J., Serrano C., Sangani D.S., Wall C., Prior T.W., and Sommer S.S. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 28 57 (2001) 645-650
-
(2001)
Neurology
, vol.28
, Issue.57
, pp. 645-650
-
-
Mendell, J.R.1
Buzin, C.H.2
Feng, J.3
Yan, J.4
Serrano, C.5
Sangani, D.S.6
Wall, C.7
Prior, T.W.8
Sommer, S.S.9
-
22
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M., Iwahana H., Kanazawa H., Hayashi K., and Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. U.S.A. 86 (1989) 2766-2770
-
(1989)
Proc. Natl. Acad. Sci. U.S.A.
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
23
-
-
0027739689
-
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations
-
Roest P.A., Roberts R.G., van der Tuijn A.C., Heikoop J.C., van Ommen G.J., and den Dunnen J.T. Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations. Neuromuscul. Disord. 3 (1993) 391-394
-
(1993)
Neuromuscul. Disord.
, vol.3
, pp. 391-394
-
-
Roest, P.A.1
Roberts, R.G.2
van der Tuijn, A.C.3
Heikoop, J.C.4
van Ommen, G.J.5
den Dunnen, J.T.6
-
25
-
-
11444268506
-
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
-
Schwartz M., and Duno M. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet. Test 8 (2004) 361-367
-
(2004)
Genet. Test
, vol.8
, pp. 361-367
-
-
Schwartz, M.1
Duno, M.2
-
26
-
-
17144436200
-
Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunohistochemical study compared with clinical stage, serum enzymes and muscle biopsy
-
Werneck L.C., and Bonilla E. Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunohistochemical study compared with clinical stage, serum enzymes and muscle biopsy. Arq. Neuropsiquiatr. 48 (1990) 454-464
-
(1990)
Arq. Neuropsiquiatr.
, vol.48
, pp. 454-464
-
-
Werneck, L.C.1
Bonilla, E.2
-
27
-
-
18444368121
-
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
-
White S., Kalf M., Liu Q., Villerius M., Engelsma D., Kriek M., Vollebregt E., Bakker B., van Ommen G.J., Breuning M.H., and den Dunnen J.T. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am. J. Hum. Genet. 71 (2002) 365-374
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 365-374
-
-
White, S.1
Kalf, M.2
Liu, Q.3
Villerius, M.4
Engelsma, D.5
Kriek, M.6
Vollebregt, E.7
Bakker, B.8
van Ommen, G.J.9
Breuning, M.H.10
den Dunnen, J.T.11
-
28
-
-
1042276699
-
Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD)
-
Yan J., Feng J., Buzin C.H., Scaringe W., Liu Q., Mendell J.R., den Dunnen J., and Sommer S.S. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum. Mutat. 23 (2004) 203-204
-
(2004)
Hum. Mutat.
, vol.23
, pp. 203-204
-
-
Yan, J.1
Feng, J.2
Buzin, C.H.3
Scaringe, W.4
Liu, Q.5
Mendell, J.R.6
den Dunnen, J.7
Sommer, S.S.8
-
29
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M., and Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. 108 (1990) 748-752
-
(1990)
J. Biochem.
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
|