-
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
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 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
-
3
-
-
0025943652
-
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
-
Clemens P, Fenwick R, Chamberlain J, Gibbs R, de Andrade M, Chakraborty R, Caskey C (1991) Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Med Genet 49:951-960
-
(1991)
Am J Med Genet
, vol.49
, pp. 951-960
-
-
Clemens, P.1
Fenwick, R.2
Chamberlain, J.3
Gibbs, R.4
De Andrade, M.5
Chakraborty, R.6
Caskey, C.7
-
4
-
-
0344845194
-
Pathways for mitotic homologous recombination in mammalian cells
-
Helleday T (2003) Pathways for mitotic homologous recombination in mammalian cells. Mutat Res 532:103-115
-
(2003)
Mutat Res
, vol.532
, pp. 103-115
-
-
Helleday, T.1
-
5
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotypegenotype correlation
-
Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG (1990) Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet 46:682-695
-
(1990)
Am J Hum Genet
, vol.46
, pp. 682-695
-
-
Hu, X.Y.1
Ray, P.N.2
Murphy, E.G.3
Thompson, M.W.4
Worton, R.G.5
-
6
-
-
0025772873
-
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination
-
Hu XY, Ray PN, Worton RG (1991) Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. Embo J 10:2471-2477
-
(1991)
Embo J
, vol.10
, pp. 2471-2477
-
-
Hu, X.Y.1
Ray, P.N.2
Worton, R.G.3
-
7
-
-
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, Zschocke J (2005) MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35
-
(2005)
Neurogenetics
, vol.6
, pp. 29-35
-
-
Janssen, B.1
Hartmann, C.2
Scholz, V.3
Jauch, A.4
Zschocke, J.5
-
8
-
-
33644814036
-
Deletion and duplication screening in the DMD gene using MLPA
-
Lalic T, Vossen R, Coffa J, Schouten J, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning M, White SdDJ (2005) Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 13:1231-1234
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1231-1234
-
-
Lalic, T.1
Vossen, R.2
Coffa, J.3
Schouten, J.4
Guc-Scekic, M.5
Radivojevic, D.6
Djurisic, M.7
Breuning, M.8
Sddj, W.9
-
9
-
-
0026046262
-
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
-
Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H (1991) Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J Clin Invest 87:2127-2131
-
(1991)
J Clin Invest
, vol.87
, pp. 2127-2131
-
-
Matsuo, M.1
Masumura, T.2
Nishio, H.3
Nakajima, T.4
Kitoh, Y.5
Takumi, T.6
Koga, J.7
Nakamura, H.8
-
10
-
-
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
-
11
-
-
33748343403
-
Duplications in the DMD gene
-
White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT (2006) Duplications in the DMD gene. Hum Mutat 27:938-945
-
(2006)
Hum Mutat
, vol.27
, pp. 938-945
-
-
White, S.J.1
Aartsma-Rus, A.2
Flanigan, K.M.3
Weiss, R.B.4
Kneppers, A.L.5
Lalic, T.6
Janson, A.A.7
Ginjaar, H.B.8
Breuning, M.H.9
Den Dunnen, J.T.10
-
12
-
-
28144439211
-
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
-
Woodward KJ, Cundall M, Sperle K, Sistermens EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbem JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM (2005) Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 77:966-987
-
(2005)
Am J Hum Genet
, vol.77
, pp. 966-987
-
-
Woodward, K.J.1
Cundall, M.2
Sperle, K.3
Sistermens, E.A.4
Ross, M.5
Howell, G.6
Gribble, S.M.7
Burford, D.C.8
Carter, N.P.9
Hobson, D.L.10
Garbem, J.Y.11
Kamholz, J.12
Heng, H.13
Hodes, M.E.14
Malcolm, S.15
Hobson, G.M.16
-
13
-
-
40049112741
-
Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients
-
13 Sep (Epub ahead of print)
-
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y (2007) Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 13 Sep (Epub ahead of print)
-
(2007)
Hum Mutat
-
-
Zeng, F.1
Ren, Z.R.2
Huang, S.Z.3
Kalf, M.4
Mommersteeg, M.5
Smit, M.6
White, S.7
Jin, C.L.8
Xu, M.9
Zhou, D.W.10
Yan, J.B.11
Chen, M.J.12
Van Beuningen, R.13
Huang, S.Z.14
Den Dunnen, J.15
Zeng, Y.T.16
Wu, Y.17
|