-
1
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 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
-
2
-
-
2942523954
-
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
-
Bennett RR, Dunnen J, O'Brien KF, Darras BT, Kunkel LM (2001) Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2:17
-
(2001)
BMC Genet
, vol.2
, pp. 17
-
-
Bennett, R.R.1
Dunnen, J.2
O'Brien, K.F.3
Darras, B.T.4
Kunkel, L.M.5
-
3
-
-
0002503692
-
Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
-
Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds). Academic Press, San Francisco
-
Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT (1990) Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) PCR protocols: a guide to methods and applications. Academic Press, San Francisco, pp 272-281
-
(1990)
PCR Protocols: A Guide to Methods and Applications
, pp. 272-281
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Caskey, C.T.4
-
4
-
-
0031051628
-
Double-gradient DGGE for optimized detection of DNA point mutations
-
Cremonesi L, Firpo S, Ferrari M, Righetti PG, Gelfi C (1997) Double-gradient DGGE for optimized detection of DNA point mutations. Biotechniques 22:326-330
-
(1997)
Biotechniques
, vol.22
, pp. 326-330
-
-
Cremonesi, L.1
Firpo, S.2
Ferrari, M.3
Righetti, P.G.4
Gelfi, C.5
-
5
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases: A world survey
-
Emery AE (1991) Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1:19-29
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.1
-
6
-
-
0031978181
-
Base-calling of automated sequencer traces using Phred. II. Error probabilities
-
Ewing B, Green P (1998) Base-calling of automated sequencer traces using Phred. II. Error probabilities. Genome Res 8:186-194
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
7
-
-
0031955518
-
Base-calling of automated sequencer traces using Phred. I. Accuracy assessment
-
Ewing B, Hillier L, Wendl MC, Green P (1998) Base-calling of automated sequencer traces using Phred. I. Accuracy assessment. Genome Res 8:175-185
-
(1998)
Genome Res
, vol.8
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.C.3
Green, P.4
-
8
-
-
0031955116
-
Consed: A graphical tool for sequence finishing
-
Gordon D, Abajian C, Green P (1998) Consed: a graphical tool for sequence finishing. Genome Res 8:195-202
-
(1998)
Genome Res
, vol.8
, pp. 195-202
-
-
Gordon, D.1
Abajian, C.2
Green, P.3
-
9
-
-
0036079158
-
The human genome browser at UCSC
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D (2002) The human genome browser at UCSC. Genome Res 12:996-1006
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
10
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
-
11
-
-
0034611016
-
Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion
-
Lu QL, Morris GE, Wilton SD, Ly T, Artem'yeva OV, Strong P, Partridge TA (2000) Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol 148:985-996
-
(2000)
J Cell Biol
, vol.148
, pp. 985-996
-
-
Lu, Q.L.1
Morris, G.E.2
Wilton, S.D.3
Ly, T.4
Artem'yeva, O.V.5
Strong, P.6
Partridge, T.A.7
-
12
-
-
0035964228
-
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
-
Mendell JR, Buzin CH, Feng J, Yan J, Serrano C, Sangani DS, Prior TW, Sommer SS (2001) Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57:645-650
-
(2001)
Neurology
, vol.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
Prior, T.W.7
Sommer, S.S.8
-
13
-
-
0028092013
-
Molecular diagnosis and modern management of Duchenne muscular dystrophy
-
Miller RG, Hoffman EP (1994) Molecular diagnosis and modern management of Duchenne muscular dystrophy. Neurol Clin 12:699-725
-
(1994)
Neurol Clin
, vol.12
, pp. 699-725
-
-
Miller, R.G.1
Hoffman, E.P.2
-
14
-
-
0028303798
-
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
-
Roberts RG, Gardner RJ, Bobrow M (1994) Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat 4:1-11
-
(1994)
Hum Mutat
, vol.4
, pp. 1-11
-
-
Roberts, R.G.1
Gardner, R.J.2
Bobrow, M.3
-
15
-
-
0027739689
-
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations
-
Roest PA, Roberts RG, van der Tuijn AC, Heikoop JC, van Ommen GJ, den Dunnen JT (1993) Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations. Neuromuscul Disord 3:391-394
-
(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
-
16
-
-
0032756947
-
Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
-
Tuffery-Giraud S, Chambert S, Demaille J, Claustres M (1999) Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 14:359-368
-
(1999)
Hum Mutat
, vol.14
, pp. 359-368
-
-
Tuffery-Giraud, S.1
Chambert, S.2
Demaille, J.3
Claustres, M.4
-
17
-
-
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 GJ, Breuning MH, den Dunnen JT (2002) Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 71:365-374
-
(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
-
18
-
-
0030963232
-
Dystrophin gene transcripts skipping the mdx mutation
-
Wilton SD, Dye DE, Laing NG (1997) Dystrophin gene transcripts skipping the mdx mutation. Muscle Nerve 20:728-734
-
(1997)
Muscle Nerve
, vol.20
, pp. 728-734
-
-
Wilton, S.D.1
Dye, D.E.2
Laing, N.G.3
|