-
1
-
-
0026522569
-
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene
-
Abbs SJ, Bobrow M: Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 29: 191-196 (1992).
-
(1992)
J Med Genet
, vol.29
, pp. 191-196
-
-
Abbs, S.J.1
Bobrow, M.2
-
2
-
-
26444577882
-
Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3
-
Aldred PM, Hollox EJ, Armour JA: Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3 . Hum Mol Genet 14:2045-2052 (2005).
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2045-2052
-
-
Aldred, P.M.1
Hollox, E.J.2
Armour, J.A.3
-
3
-
-
0034650292
-
Measurement of locus copy number by hybridisation with amplifiable probes
-
Armour JA, Sismani C, Patsalis PC, Cross G: Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 28:605-609 (2000).
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 605-609
-
-
Armour, J.A.1
Sismani, C.2
Patsalis, P.C.3
Cross, G.4
-
4
-
-
0025244924
-
Detection of 98 percent DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98 percent DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86: 45-48 (1990).
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
5
-
-
0025769924
-
The replication termination signal terB of the Escherichia coli chromosome is a deletion hot spot
-
Bierne H, Ehrlich SD, Michel B: The replication termination signal terB of the Escherichia coli chromosome is a deletion hot spot. EMBO J 10: 2699-2705 (1991).
-
(1991)
EMBO J
, vol.10
, pp. 2699-2705
-
-
Bierne, H.1
Ehrlich, S.D.2
Michel, B.3
-
6
-
-
10744230160
-
High-resolution analysis of DNA copy number using oligonucleotide microarrays
-
Bignell GR, Huang J, Greshock J, Watt S, Butler A, et al: High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 14:287-295 (2004).
-
(2004)
Genome Res
, vol.14
, pp. 287-295
-
-
Bignell, G.R.1
Huang, J.2
Greshock, J.3
Watt, S.4
Butler, A.5
-
7
-
-
0025719080
-
242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD-gene are widely spread
-
Blonden LAJ, Grootscholten PM, Den Dunnen JT, Bakker E, Abbs SJ, et al: 242 breakpoints in the 200-kb deletion-prone P20 region of the DMD-gene are widely spread. Genomics 10:631-639 (1991).
-
(1991)
Genomics
, vol.10
, pp. 631-639
-
-
Blonden, L.A.J.1
Grootscholten, P.M.2
Den Dunnen, J.T.3
Bakker, E.4
Abbs, S.J.5
-
8
-
-
0029610541
-
Chromatin domains and prediction of MAR sequences
-
Boulikas T: Chromatin domains and prediction of MAR sequences. Int Rev Cytol 162A:279-388 (1995).
-
(1995)
Int Rev Cytol
, vol.162 A
, pp. 279-388
-
-
Boulikas, T.1
-
9
-
-
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. Nucleic Acids Res 23: 11141-11156 (1988).
-
(1988)
Nucleic Acids Res
, vol.23
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nga Nguyen, P.N.4
Caskey, C.T.5
-
10
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK: A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38:75-81 (2006).
-
(2006)
Nat Genet
, vol.38
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
11
-
-
0023745057
-
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy families studied with the dystrophin cDNA: Location of breakpoints on Hin dIII and Bgl II exon-containing fragment maps, meiotic and mitotic origin of the mutations
-
Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U: Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy families studied with the dystrophin cDNA: location of breakpoints on Hin dIII and Bgl II exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 43:620-629 (1988).
-
(1988)
Am J Hum Genet
, vol.43
, pp. 620-629
-
-
Darras, B.T.1
Blattner, P.2
Harper, J.F.3
Spiro, A.J.4
Alter, S.5
Francke, U.6
-
12
-
-
33746349571
-
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16
-
Dauwerse JG, Hansson KB, Brouwers AA, Peters DJ, Breuning MH: An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 86:463.e1-e5 (2006).
-
(2006)
Fertil Steril
, vol.86
-
-
Dauwerse, J.G.1
Hansson, K.B.2
Brouwers, A.A.3
Peters, D.J.4
Breuning, M.H.5
-
13
-
-
0023194295
-
Direct detection of more than 50% Duchenne muscular dystrophy mutations by field-inversion gels
-
Den Dunnen JT, Bakker E, Klein-Breteler EG, Pearson PL, Van Ommen GJB: Direct detection of more than 50% Duchenne muscular dystrophy mutations by field-inversion gels. Nature 329: 640-642 (1987).
-
(1987)
Nature
, vol.329
, pp. 640-642
-
-
Den Dunnen, J.T.1
Bakker, E.2
Klein-Breteler, E.G.3
Pearson, P.L.4
Van Ommen, G.J.B.5
-
14
-
-
0024815723
-
Topography of the DMD gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LAJ, Ginjaar HB, et al: Topography of the DMD gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835-847 (1989).
-
(1989)
Am J Hum Genet
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
Blonden, L.A.J.4
Ginjaar, H.B.5
-
15
-
-
0026849399
-
Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination
-
Den Dunnen JT, Grootscholten PM, Dauwerse JD, Monaco AP, Walker AP, et al: Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination. Hum Mol Genet 1: 19-28 (1992).
-
(1992)
Hum Mol Genet
, vol.1
, pp. 19-28
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Dauwerse, J.D.3
Monaco, A.P.4
Walker, A.P.5
-
16
-
-
20144389134
-
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
-
Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, et al: Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 134:295-298 (2005).
-
(2005)
Am J Med Genet A
, vol.134
, pp. 295-298
-
-
Dent, K.M.1
Dunn, D.M.2
Von Niederhausern, A.C.3
Aoyagi, A.T.4
Kerr, L.5
-
17
-
-
34147145526
-
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
-
Feuk L, MacDonald JR, Tang T, Carson AR, Li M, et al: Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet 1:e56 (2005).
-
(2005)
PLoS Genet
, vol.1
-
-
Feuk, L.1
MacDonald, J.R.2
Tang, T.3
Carson, A.R.4
Li, M.5
-
18
-
-
0028989174
-
High-resolution FISH for genomic DNA mapping and colour bar-coding of large genes
-
Florijn RJ, Blonden LAJ, Vrolijk H, Wiegant J, Vaandrager JW, et al: High-resolution FISH for genomic DNA mapping and colour bar-coding of large genes. Hum Mol Genet 4:831-836 (1995).
-
(1995)
Hum Mol Genet
, vol.4
, pp. 831-836
-
-
Florijn, R.J.1
Blonden, L.A.J.2
Vrolijk, H.3
Wiegant, J.4
Vaandrager, J.W.5
-
19
-
-
3543040014
-
Complex SNP-related sequence variation in segmental genome duplications
-
Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, Brookes AJ: Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 36:861-866 (2004).
-
(2004)
Nat Genet
, vol.36
, pp. 861-866
-
-
Fredman, D.1
White, S.J.2
Potter, S.3
Eichler, E.E.4
Den Dunnen, J.T.5
Brookes, A.J.6
-
20
-
-
13544266559
-
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
-
Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, et al: Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 13:139-149 (2005).
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 139-149
-
-
Gajecka, M.1
Yu, W.2
Ballif, B.C.3
Glotzbach, C.D.4
Bailey, K.A.5
-
21
-
-
0026694614
-
Intrinsic intermolecular DNA ligation activity of eukaryotic topoisomerase II. Potential roles in recombination
-
Gale KC, Osheroff N: Intrinsic intermolecular DNA ligation activity of eukaryotic topoisomerase II. Potential roles in recombination. J Biol Chem 267:12090-12097 (1992).
-
(1992)
J Biol Chem
, vol.267
, pp. 12090-12097
-
-
Gale, K.C.1
Osheroff, N.2
-
22
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, et al: The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 307:1434-1440 (2005).
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
-
23
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
Hinds DA, Kloek AP, Jen M, Chen X, Frazer KA: Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet 38:82-85 (2006).
-
(2006)
Nat Genet
, vol.38
, pp. 82-85
-
-
Hinds, D.A.1
Kloek, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
24
-
-
0042387792
-
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
-
Hollox EJ, Armour JA, Barber JC: Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 73: 591-600 (2003).
-
(2003)
Am J Hum Genet
, vol.73
, pp. 591-600
-
-
Hollox, E.J.1
Armour, J.A.2
Barber, J.C.3
-
25
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus:its frequency, distribution, origin and phenotype/genotype correlation
-
Hu X, Ray PN, Murphy E, Thompson MW, Worton RG: Duplicational mutation at the Duchenne muscular dystrophy locus:its frequency, distribution, origin and phenotype/genotype correlation. Am J Hum Genet 46:682-695 (1990).
-
(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
-
26
-
-
0025772873
-
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination
-
Hu X, Ray PN, Worton RG: Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J 10:2471-2477 (1991).
-
(1991)
EMBO J
, vol.10
, pp. 2471-2477
-
-
Hu, X.1
Ray, P.N.2
Worton, R.G.3
-
27
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al: Detection of large-scale variation in the human genome. Nat Genet 36:949-951 (2004).
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
-
28
-
-
2342638290
-
Visualization of individual DNA loops and a map of loop domains in the human dystrophin gene
-
Iarovaia OV, Bystritskiy A, Ravcheev D, Hancock R, Razin SV: Visualization of individual DNA loops and a map of loop domains in the human dystrophin gene. Nucleic Acids Res 32:2079-2086 (2004).
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 2079-2086
-
-
Iarovaia, O.V.1
Bystritskiy, A.2
Ravcheev, D.3
Hancock, R.4
Razin, S.V.5
-
30
-
-
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. Neurol 42:1783-1790 (1992).
-
(1992)
Neurol
, vol.42
, pp. 1783-1790
-
-
Ioannou, P.1
Christopoulos, G.2
Panayides, K.3
Kleanthous, M.4
Middleton, L.5
-
31
-
-
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: MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35 (2005).
-
(2005)
Neurogenetics
, vol.6
, pp. 29-35
-
-
Janssen, B.1
Hartmann, C.2
Scholz, V.3
Jauch, A.4
Zschocke, J.5
-
32
-
-
4143082585
-
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
-
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, et al: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 75:410-423 (2004).
-
(2004)
Am J Hum Genet
, vol.75
, pp. 410-423
-
-
Kehrer-Sawatzki, H.1
Kluwe, L.2
Sandig, C.3
Kohn, M.4
Wimmer, K.5
-
33
-
-
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 EP, Bertelson CJ, Monaco AP, Feener CA, 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 50:509-517 (1987).
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.A.5
Kunkel, L.M.6
-
34
-
-
0006695192
-
Specific cloning of DNA fragments absent from the DNA of a male patient with an X-chromosome deletion
-
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA: Specific cloning of DNA fragments absent from the DNA of a male patient with an X-chromosome deletion. Proc Natl Acad Sci USA 82:4778-4782 (1985).
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 4778-4782
-
-
Kunkel, L.M.1
Monaco, A.P.2
Middlesworth, W.3
Ochs, H.D.4
Latt, S.A.5
-
35
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich D, Kazazian HHJ, Antonarakis SE, Gitschier J: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5:236-241 (1993).
-
(1993)
Nat Genet
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian, H.H.J.2
Antonarakis, S.E.3
Gitschier, J.4
-
36
-
-
33644814036
-
Deletion and duplication screening in the DMD gene using MLPA
-
Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, et al: Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 13:1231-1234 (2005).
-
(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
-
37
-
-
0035194812
-
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
-
Lemmers RJL, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, et al: Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 50:816-819 (2001).
-
(2001)
Ann Neurol
, vol.50
, pp. 816-819
-
-
Lemmers, R.J.L.1
De Kievit, P.2
Van Geel, M.3
Van Der Wielen, M.J.4
Bakker, E.5
-
38
-
-
10744231187
-
Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation
-
Lucito R, Healy J, Alexander J, Reiner A, Esposito D, et al: Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 13:2291-2305 (2003).
-
(2003)
Genome Res
, vol.13
, pp. 2291-2305
-
-
Lucito, R.1
Healy, J.2
Alexander, J.3
Reiner, A.4
Esposito, D.5
-
39
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, et al: Common deletion polymorphisms in the human genome. Nat Genet 38: 86-92 (2006).
-
(2006)
Nat Genet
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
-
40
-
-
0032487761
-
Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene
-
McNaughton JC, Cockburn DJ, Hughes G, Jones WA, Laing NG, et al: Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene. Gene 222:41-51 (1998).
-
(1998)
Gene
, vol.222
, pp. 41-51
-
-
McNaughton, J.C.1
Cockburn, D.J.2
Hughes, G.3
Jones, W.A.4
Laing, N.G.5
-
41
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM: An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2: 90-95 (1988).
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, L.M.5
-
42
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, et al: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29:321-325 (2001).
-
(2001)
Nat Genet
, vol.29
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
Chitayat, D.4
Bodurtha, J.5
-
43
-
-
0026950937
-
Two hot spots of recombination in the DMD-gene correlate with the deletion prone regions
-
Oudet C, Hanauer A, Clemens P, Caskey CT, Mandel JL: Two hot spots of recombination in the DMD-gene correlate with the deletion prone regions. Hum Mol Genet 1:599-603 (1992).
-
(1992)
Hum Mol Genet
, vol.1
, pp. 599-603
-
-
Oudet, C.1
Hanauer, A.2
Clemens, P.3
Caskey, C.T.4
Mandel, J.L.5
-
44
-
-
0026781879
-
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk
-
Passos-Bueno MR, Bakker E, Kneppers ALJ, Takata RI, Rapaport D, et al: Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet 51:1150-1155 (1992).
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1150-1155
-
-
Passos-Bueno, M.R.1
Bakker, E.2
Kneppers, A.L.J.3
Takata, R.I.4
Rapaport, D.5
-
45
-
-
0022347518
-
Cloning of the breakpoint of an X:21 translocation associated with Duchenne muscular dystrophy
-
Ray PN, Belfall B, Duff C, Logan C, Kean V, et al: Cloning of the breakpoint of an X:21 translocation associated with Duchenne muscular dystrophy. Nature 318:672-675 (1985).
-
(1985)
Nature
, vol.318
, pp. 672-675
-
-
Ray, P.N.1
Belfall, B.2
Duff, C.3
Logan, C.4
Kean, V.5
-
46
-
-
0346096787
-
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
-
Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, et al: Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 23:17-21 (2004).
-
(2004)
Hum Mutat
, vol.23
, pp. 17-21
-
-
Rooms, L.1
Reyniers, E.2
Van Luijk, R.3
Scheers, S.4
Wauters, J.5
-
47
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57 (2002).
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
48
-
-
11444268506
-
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
-
Schwartz M, Duno M: Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 8:361-367 (2004).
-
(2004)
Genet Test
, vol.8
, pp. 361-367
-
-
Schwartz, M.1
Duno, M.2
-
49
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al: Large-scale copy number polymorphism in the human genome. Science 305:525-528 (2004).
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
50
-
-
20544462642
-
Segmental duplications and copynumber variation in the human genome
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, et al: Segmental duplications and copynumber variation in the human genome. Am J Hum Genet 77:78-88 (2005).
-
(2005)
Am J Hum Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
-
51
-
-
0037361365
-
Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot
-
Sironi M, Pozzoli U, Cagliani R, Giorda R, Comi GP, et al: Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet 112:272-288 (2003).
-
(2003)
Hum Genet
, vol.112
, pp. 272-288
-
-
Sironi, M.1
Pozzoli, U.2
Cagliani, R.3
Giorda, R.4
Comi, G.P.5
-
52
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, et al: A common inversion under selection in Europeans. Nat Genet 37:129-137 (2005).
-
(2005)
Nat Genet
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
-
53
-
-
0035029216
-
Mammalian recombination hot spot in a DNA loop anchorage region: A model for the study of common fragile sites
-
Svetlova EY, Razin SV, Debatisse M: Mammalian recombination hot spot in a DNA loop anchorage region: A model for the study of common fragile sites. J Cell Biochem 81:170-178 (2001).
-
(2001)
J Cell Biochem
, vol.81
, pp. 170-178
-
-
Svetlova, E.Y.1
Razin, S.V.2
Debatisse, M.3
-
54
-
-
0034553058
-
Enhanced flexibility and aphidicolin-induced DNA breaks near mammalian replication origins: Implications for replicon mapping and chromosome fragility
-
Toledo F, Coquelle A, Svetlova E, Debatisse M: Enhanced flexibility and aphidicolin-induced DNA breaks near mammalian replication origins: implications for replicon mapping and chromosome fragility. Nucleic Acids Res 28: 4805-4813 (2000).
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 4805-4813
-
-
Toledo, F.1
Coquelle, A.2
Svetlova, E.3
Debatisse, M.4
-
55
-
-
16844371343
-
Frequency of new copy number variation in humans
-
van Ommen GJ: Frequency of new copy number variation in humans. Nat Genet 37:333-334 (2005).
-
(2005)
Nat Genet
, vol.37
, pp. 333-334
-
-
Van Ommen, G.J.1
-
56
-
-
0031260080
-
Mapping of replication origins and termination sites in the Duchenne muscular dystrophy gene
-
Verbovaia LV, Razin SV: Mapping of replication origins and termination sites in the Duchenne muscular dystrophy gene. Genomics 45:24-30 (1997).
-
(1997)
Genomics
, vol.45
, pp. 24-30
-
-
Verbovaia, L.V.1
Razin, S.V.2
-
57
-
-
0024997668
-
The role of DNA topoisomerases in recombination and genome stability: A double-edged sword?
-
Wang JC, Caron PR, Kim RA: The role of DNA topoisomerases in recombination and genome stability: a double-edged sword? Cell 62:403-406 (1990).
-
(1990)
Cell
, vol.62
, pp. 403-406
-
-
Wang, J.C.1
Caron, P.R.2
Kim, R.A.3
-
58
-
-
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, et al: 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).
-
(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
-
59
-
-
33748343403
-
Duplications in the DMD gene
-
White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers ALJ, et al: Duplications in the DMD gene. Hum Mut 27:938-945 (2006).
-
(2006)
Hum Mut
, vol.27
, pp. 938-945
-
-
White, S.J.1
Aartsma-Rus, A.2
Flanigan, K.M.3
Weiss, R.B.4
Kneppers, A.L.J.5
-
60
-
-
28144439211
-
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
-
Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, et al: 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).
-
(2005)
Am J Hum Genet
, vol.77
, pp. 966-987
-
-
Woodward, K.J.1
Cundall, M.2
Sperle, K.3
Sistermans, E.A.4
Ross, M.5
|