-
1
-
-
0034650292
-
Measurement of locus copy number by hybridisation with amplifiable probes
-
ARMOUR, J.A., SISMANI, C., PATSALIS, P.C., et al. (2000). Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res. 28, 605-609.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 605-609
-
-
Armour, J.A.1
Sismani, C.2
Patsalis, P.C.3
-
2
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
BEGGS, A.H., KOENIG, M., BOYCE, F.M., et al. (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
-
3
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDClC
-
BROCKINGTON, M., YUVA, Y., PRANDINI, P., et al. (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDClC. Hum. Mol. Genet. 10, 2851-2859.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
-
4
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
CHAMBERLAIN, J.S., GIBBS, R.A., RANIER, J.E., et al. (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
-
5
-
-
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., et al. (1989). 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, 835-847.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 835-847
-
-
Dunnen, D.E.N.1
Grootscholten, J.T.2
Bakker, P.M.3
-
6
-
-
1042266541
-
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
-
ERLANDSON, A., SAMUELSSON, L., HAGBERG, B., et al. (2003). Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet. Test 7, 329-332.
-
(2003)
Genet. Test
, vol.7
, pp. 329-332
-
-
Erlandson, A.1
Samuelsson, L.2
Hagberg, B.3
-
7
-
-
0024430346
-
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
-
GILLARD, E.F., CHAMBERLAIN, J.S., MURPHY, E.G., et al. (1989). Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am. J. Hum. Genet. 45, 507-520.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 507-520
-
-
Gillard, E.F.1
Chamberlain, J.S.2
Murphy, E.G.3
-
8
-
-
0037380994
-
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
-
HOGERVORST, F.B., NEDERLOF, P.M., GILLE, J.J., et al. (2003). Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res. 63, 1449-1453.
-
(2003)
Cancer Res.
, vol.63
, pp. 1449-1453
-
-
Hogervorst, F.B.1
Nederlof, P.M.2
Gille, J.J.3
-
9
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy, correlation of severity with type of deletion
-
KOENIG, M., BEGGS, A.H., MOYER, M., et al. (1989). The molecular basis for Duchenne versus Becker muscular dystrophy, correlation of severity with type of deletion. Am. J. Hum. Genet. 45, 498-506.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
-
10
-
-
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., et al. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
11
-
-
0010317205
-
Searching for dystrophin gene deletions in patients with atypical presentations
-
J. Lindsten and U. Petterson, eds. (Raven Press, New York)
-
KUNKEL, L.M., SNYDER, J.R., BEGGS, A.H., et al. (1991). Searching for dystrophin gene deletions in patients with atypical presentations. In Etiology of human diseases at the DNA level. J. Lindsten and U. Petterson, eds. (Raven Press, New York) pp. 51-60.
-
(1991)
Etiology of Human Diseases at the DNA Level
, pp. 51-60
-
-
Kunkel, L.M.1
Snyder, J.R.2
Beggs, A.H.3
-
12
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
MONACO, A.P., BERTELSON, C.J., LIECHTI-GALLATI, S., et al. (1988). An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2, 90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
-
13
-
-
0038364017
-
Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
-
MONTAGNA, M., DALLA PALMA, M., MENIN, C., et al. (2003). Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum. Mol. Genet. 12, 1055-1061.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1055-1061
-
-
Montagna, M.1
Dalla Palma, M.2
Menin, C.3
-
14
-
-
0037461292
-
The phenotype of limb-girdle muscular dystrophy type 21
-
POPPE, M., CREE, L., BOURKE, J., et al. (2003). The phenotype of limb-girdle muscular dystrophy type 21. Neurology 60, 1246-1251.
-
(2003)
Neurology
, vol.60
, pp. 1246-1251
-
-
Poppe, M.1
Cree, L.2
Bourke, J.3
-
15
-
-
0346096787
-
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
-
ROOMS, L., REYNIERS, E., VAN LUIJK, R., et al. (2004). Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum. Mutat. 23, 17-21.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 17-21
-
-
Rooms, L.1
Reyniers, E.2
Van Luijk, R.3
-
16
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
SCHOUTEN, J.P., MCELGUNN, C.J., WAAIJER, R., et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
Schouten, J.P.1
Mcelgunn, C.J.2
Waaijer, R.3
-
17
-
-
0346363771
-
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary nonpolyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
-
TAYLOR, C.F., CHARLTON, R.S., BURN, J., et al. (2003). Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary nonpolyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum. Mutat. 22, 428-433.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 428-433
-
-
Taylor, C.F.1
Charlton, R.S.2
Burn, J.3
-
18
-
-
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. (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
-
19
-
-
0024154743
-
Genetics of Duchenne muscular dystrophy
-
WORTON, R.G., and THOMPSON, M.W. (1988). Genetics of Duchenne muscular dystrophy. Annu. Rev. Genet. 22, 601-629.
-
(1988)
Annu. Rev. Genet.
, vol.22
, pp. 601-629
-
-
Worton, R.G.1
Thompson, M.W.2
-
20
-
-
0030466732
-
Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene
-
YAMAGISHI, H., KATO, S., HIRAISHI, Y., et al. (1996). Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene. J. Med. Genet. 33, 1027-1031.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 1027-1031
-
-
Yamagishi, H.1
Kato, S.2
Hiraishi, Y.3
-
21
-
-
0030016279
-
Accurate diagnosis of carriers of deletions and duplications in Duchenne/ Becker muscular dystrophy by fluorescent dosage analysis
-
YAU, S.C., BOBROW, M., MATHEW, C.G., et al. (1996). Accurate diagnosis of carriers of deletions and duplications in Duchenne/ Becker muscular dystrophy by fluorescent dosage analysis. J. Med. Genet. 33, 550-558
-
(1996)
J. Med. Genet.
, vol.33
, pp. 550-558
-
-
Yau, S.C.1
Bobrow, M.2
Mathew, C.G.3
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