-
1
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases-a world survey
-
Emery A.E.H. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord 1991, 1:19-20.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-20
-
-
Emery, A.E.H.1
-
3
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the Dystrophin gene in normal and affected individuals
-
Koenig M., Hoffman E.P., Bertelson C.J., Monaco A.P., Feener C., Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the Dystrophin 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
-
4
-
-
0023241485
-
Preferential deletion of exons in Duchenne and Becker muscular dystrophies
-
Forest S., Cross G.S., Speer A., Gardner-Medwin D., Burner J., Davies K. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 1987, 329:638-640.
-
(1987)
Nature
, vol.329
, pp. 638-640
-
-
Forest, S.1
Cross, G.S.2
Speer, A.3
Gardner-Medwin, D.4
Burner, J.5
Davies, K.6
-
5
-
-
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. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988, 16:11141-11156.
-
(1988)
Nucleic Acids Res
, 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
-
6
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs A.H., Koenig M., Boyce F.M., Kunkel L.M. 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
-
7
-
-
0024815723
-
Topography of the 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. Topography of the 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
-
8
-
-
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. 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
Christopoulos, G.2
Panayides, K.3
Kleanthous, M.4
Middleton, L.5
-
9
-
-
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., et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002, 71:365-374.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 365-374
-
-
White, S.1
Kalf, M.2
Liu, Q.3
-
10
-
-
33644814036
-
Deletion and duplication screening in the DMD gene using MLPA
-
Lalic T., Vossen R.H., Coffa J., et al. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005, 13:1231-1234.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1231-1234
-
-
Lalic, T.1
Vossen, R.H.2
Coffa, J.3
-
11
-
-
23444448013
-
Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers
-
Hung C., Su Y., Li C., et al. Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers. Clin Chem 2005, 51(7):1252-1256.
-
(2005)
Clin Chem
, vol.51
, Issue.7
, pp. 1252-1256
-
-
Hung, C.1
Su, Y.2
Li, C.3
-
12
-
-
77953689315
-
-
http://www.umd.be/DMD/W_DMD/index.html.
-
-
-
-
13
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype/genotype correlation
-
Hu X., Ray P.N., Murphy E., Thompson M.W., Worton R.G. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype/genotype correlation. Am J Hum Genet 1990, 46:682-695.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 682-695
-
-
Hu, X.1
Ray, P.N.2
Murphy, E.3
Thompson, M.W.4
Worton, R.G.5
-
14
-
-
23844539257
-
Experience and strategy for the molecular testing of Duchenne muscular dystrophy
-
Prior T.W., Bridgeman S.J. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005, 7(3):317-326.
-
(2005)
J Mol Diagn
, vol.7
, Issue.3
, pp. 317-326
-
-
Prior, T.W.1
Bridgeman, S.J.2
-
15
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl M.W. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 2001, 29(9):2003-2007.
-
(2001)
Nucleic Acids Res
, vol.29
, Issue.9
, pp. 2003-2007
-
-
Pfaffl, M.W.1
-
16
-
-
38849108075
-
Statistical methods for efficiency adjusted real-time PCR quantification
-
Yuan J.S., Wang D., Stewart C.N. Statistical methods for efficiency adjusted real-time PCR quantification. Biotechnol J 2008, 3(1):112-123.
-
(2008)
Biotechnol J
, vol.3
, Issue.1
, pp. 112-123
-
-
Yuan, J.S.1
Wang, D.2
Stewart, C.N.3
-
17
-
-
34250668773
-
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects
-
Hwa H.L., Chang Y.Y., Chen C.H., et al. Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. J Formos Med Assoc 2007, 106(5):339-346.
-
(2007)
J Formos Med Assoc
, vol.106
, Issue.5
, pp. 339-346
-
-
Hwa, H.L.1
Chang, Y.Y.2
Chen, C.H.3
-
18
-
-
0023241485
-
Preferential deletion of exons in Duchenne and Becker muscular dystrophies
-
Forest S., Cross G.S., Speer A., Gardner-Medwin D., Burner J., Davies K. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 1987, 329:638-640.
-
(1987)
Nature
, vol.329
, pp. 638-640
-
-
Forest, S.1
Cross, G.S.2
Speer, A.3
Gardner-Medwin, D.4
Burner, J.5
Davies, K.6
-
19
-
-
77953706757
-
-
Leiden Muscular Dystrophy pages
-
Leiden Muscular Dystrophy pages. http://www.dmd.nl/.
-
-
-
-
20
-
-
0031049169
-
Are there ethnic differences in deletions in the dystrophin gene?
-
Banerjee M., Verma I.C. Are there ethnic differences in deletions in the dystrophin gene?. Am J Med Genet 1997, 68(2):152-157.
-
(1997)
Am J Med Genet
, vol.68
, Issue.2
, pp. 152-157
-
-
Banerjee, M.1
Verma, I.C.2
-
21
-
-
0343238185
-
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians
-
Önengut S., Kavaslar G.N., Battaloǧlu E., et al. Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. Ann Hum Genet 2000, 64(Pt 1):33-40.
-
(2000)
Ann Hum Genet
, vol.64
, Issue.PART 1
, pp. 33-40
-
-
Önengut, S.1
Kavaslar, G.N.2
Battaloǧlu, E.3
-
22
-
-
33747015810
-
Analysis of dystrophin gene deletions by multiplex PCR in Moroccan patients
-
Sbiti A., El Kerch F., Sefiani A. Analysis of dystrophin gene deletions by multiplex PCR in Moroccan patients. J Biomed Biotechnol 2002, 2(3):158-160.
-
(2002)
J Biomed Biotechnol
, vol.2
, Issue.3
, pp. 158-160
-
-
Sbiti, A.1
El Kerch, F.2
Sefiani, A.3
-
23
-
-
0027502558
-
Diagnosis of dystrophinopathies: review for the clinician
-
Miller G., Wessel H. Diagnosis of dystrophinopathies: review for the clinician. Pediatr Neurol 1992, 9:3-9.
-
(1992)
Pediatr Neurol
, vol.9
, pp. 3-9
-
-
Miller, G.1
Wessel, H.2
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