-
1
-
-
33746164807
-
Duchenne and other X linked muscular dystrophies
-
Rimoin DL, Connor JM, Pyeritz, Korf BR, editors. 4th ed. London: Harcourt Publishers Limited;
-
Emery AE. Duchenne and other X linked muscular dystrophies. In: Rimoin DL, Connor JM, Pyeritz, Korf BR, editors. Emery and Rimoin's principles and practice of medical genetics, 4th ed. London: Harcourt Publishers Limited; 2002a; p. 3266-84.
-
(2002)
Emery and Rimoins Principles and Practice of Medical Genetics
, pp. 3266-3284
-
-
Emery, A.E.1
-
2
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nga Nguyen PN, Caskey CT. Deletion screening of the duchenne muscular dystrophy, locus via multiplex DNA amplification. Nucl Acid Res 1988;16:11141-56. (Pubitemid 19008461)
-
(1988)
Nucleic Acids Research
, vol.16
, Issue.23
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
4
-
-
84856110500
-
-
Center for Human and Clinical Genetics, Leiden University Medical Center. DNA based diagnostic techniques for DMD/BMD Deletion Detection using multiplex PCR. Available from:Last updated on Mar 16
-
denDunnen JT. Leiden Muscular Dystrophy pages. Center for Human and Clinical Genetics, Leiden University Medical Center. DNA based diagnostic techniques for DMD/BMD Deletion Detection using multiplex PCR. Available from: http://www.dmd.nl/ [Last updated on 2005a Mar 16].
-
(2005)
Leiden Muscular Dystrophy Pages
-
-
DenDunnen, J.T.1
-
5
-
-
14244262802
-
Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy
-
DOI 10.1111/j.1399-0004.2004.00382.x
-
Schwartz M, Duno M. Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy. Clin Genet 2005;67:189-91. (Pubitemid 40287528)
-
(2005)
Clinical Genetics
, vol.67
, Issue.2
, pp. 189-191
-
-
Schwartz, M.1
Duno, M.2
-
6
-
-
15444370412
-
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: Potential and pitfalls
-
DOI 10.1007/s10048-004-0204-1
-
Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: Potential and pitfalls. Neurogenetics 2005;6:29-35. (Pubitemid 40394828)
-
(2005)
Neurogenetics
, vol.6
, Issue.1
, pp. 29-35
-
-
Janssen, B.1
Hartmann, C.2
Scholz, V.3
Jauch, A.4
Zschocke, J.5
-
7
-
-
67649588952
-
Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients carriers and prenatal diagnosis
-
Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, et al. Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009;26:318-22.
-
(2009)
Zhonghua. Yi. Xue. Yi. Chuan. Xue. Za. Zhi.
, vol.26
, pp. 318-322
-
-
Li, H.1
Ding, J.2
Wang, W.3
Chen, Y.4
Lu, W.5
Shao, H.6
-
8
-
-
84856083173
-
Leiden muscular dystrophy pages center for human and clinical genetics leiden university medical center
-
Available from: Last updated on Mar 16
-
DenDunnen JT. Leiden Muscular Dystrophy pages. Center for Human and Clinical Genetics, Leiden University Medical Center. DMD exonic deletions/duplications reading-frame checker 1.6. Available from: http:// www.dmd.nl/. [Last updated on 2005b Mar 16].
-
(2005)
DMD Exonic Deletions/Duplications Reading-Frame Checker 1.6.
-
-
DenDunnen, J.T.1
-
9
-
-
51549094171
-
Microarray-based mutation detection in the dystrophin gene
-
Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008;29:1091-9.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1091-1099
-
-
Hegde, M.R.1
Chin, E.L.2
Mulle, J.G.3
Okou, D.T.4
Warren, S.T.5
Zwick, M.E.6
-
10
-
-
56049124334
-
Duchenne and becker muscular dystrophies: An Indian update on genetics and rehabilitation
-
Nadkarni JJ, Dastur RS, Viswanathan V, Gaitonde PS, Khadilkar SV. Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation. Neurol India 2008;56:248-53.
-
(2008)
Neurol. India
, vol.56
, pp. 248-253
-
-
Nadkarni, J.J.1
Dastur, R.S.2
Viswanathan, V.3
Gaitonde, P.S.4
Khadilkar, S.V.5
-
11
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
DOI 10.1016/0092-8674(87)90504-6
-
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;50:509-17. (Pubitemid 18098338)
-
(1987)
Cell
, vol.50
, Issue.3
, pp. 509-517
-
-
Koening, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
12
-
-
33644814036
-
Deletions and duplication screening in the DMD gene using MLPA
-
Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, et al. Deletions and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005;13:1231-4.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 1231-1234
-
-
Lalic, T.1
Vossen, R.H.2
Coffa, J.3
Schouten, J.P.4
Guc-Scekic, M.5
Radivojevic, D.6
-
13
-
-
42149120370
-
Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families
-
Marzese DM, Manipel A, Gomez LC, Echeverria MI, Vargas AL, Ferrerio V, et al. Detection of deletion and duplications in the Duchenne Muscular Dystrophy geneby the molecular method of MLPA in the first Argentina affected families. Genet Mol Res 2008;7:223-33. (Pubitemid 351543680)
-
(2008)
Genetics and Molecular Research
, vol.7
, Issue.1
, pp. 223-233
-
-
Marzese, D.M.1
Mampel, A.2
Gomez, L.C.3
Echeverria, M.I.4
Vargas, A.L.5
Ferreiro, V.6
Giliberto, F.7
Roque, M.8
-
14
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel KL. An explanation for the phenotypic differences between patients bearing partial deletions of DMD locus. Genomics 1988;2:90-5.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, K.L.5
-
15
-
-
56049087976
-
Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns
-
Dastur R, Gaitonde P, Khadilkar S, Nadkarni J. Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns. Neurol India 2008;56:374-8.
-
(2008)
Neurol. India
, vol.56
, pp. 374-378
-
-
Dastur, R.1
Gaitonde, P.2
Khadilkar, S.3
Nadkarni, J.4
-
16
-
-
77957037344
-
Use of multiplex ligationdependent probe amplification MLPA for Duchenne muscular dystrophy DMD gene mutation analysis
-
Murugan S, Chandramohan A, Lakshmi BR. Use of multiplex ligationdependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis. Indian J Med Res 2010;132:303-11.
-
(2010)
Indian J. Med. Res.
, vol.132
, pp. 303-311
-
-
Murugan, S.1
Chandramohan, A.2
Lakshmi, B.R.3
-
17
-
-
78650474533
-
Gene changes in Duchenne muscular dystrophy: Comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques
-
Kohli S, Saxena R, Thomas E, Singh J, Verma IC. Gene changes in Duchenne muscular dystrophy: Comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques. Neurol India 2010;58:852-6.
-
(2010)
Neurol. India
, vol.58
, pp. 852-856
-
-
Kohli, S.1
Saxena, R.2
Thomas, E.3
Singh, J.4
Verma, I.C.5
-
18
-
-
20344366588
-
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
-
DOI 10.1007/s00439-005-1270-7
-
Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005;117:92-8. (Pubitemid 40778787)
-
(2005)
Human Genetics
, vol.117
, Issue.1
, 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
-
19
-
-
0024313863
-
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations
-
Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, et al. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 1989;26:553-9. (Pubitemid 19225953)
-
(1989)
Journal of Medical Genetics
, vol.26
, Issue.9
, pp. 553-559
-
-
Bakker, E.1
Veenema, H.2
Den Dunnen, J.T.3
Van Broeckhoven, C.4
Grootscholten, P.M.5
Bonten, E.J.6
Van Ommen, G.J.B.7
Pearson, P.L.8
-
20
-
-
23844539257
-
Experience and strategy for the molecular testing of Duchenne muscular dystrophy
-
Prior TW, Bridgeman SJ. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005;7:317-26. (Pubitemid 41149646)
-
(2005)
Journal of Molecular Diagnostics
, vol.7
, Issue.3
, pp. 317-326
-
-
Prior, T.W.1
Bridgeman, S.J.2
-
21
-
-
0037384644
-
Rapid direct sequence analysis of the dystrophin gene
-
DOI 10.1086/374176
-
Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003;72:931-9. (Pubitemid 36403311)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.4
, 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
|