-
1
-
-
0037990066
-
Effect of secondary structure on single nucleotide polymorphism detection with a porous microarray matrix; implications for probe selection
-
Anthony RM, Schuitema AR, Chan AB, Boender PJ, Klatser PR, Oskam L: Effect of secondary structure on single nucleotide polymorphism detection with a porous microarray matrix; implications for probe selection. BioTechniques 34:1082-1089 (2003).
-
(2003)
BioTechniques
, vol.34
, pp. 1082-1089
-
-
Anthony, R.M.1
Schuitema, A.R.2
Chan, A.B.3
Boender, P.J.4
Klatser, P.R.5
Oskam, L.6
-
2
-
-
0034650292
-
Measurement of locus copy number by hybridization with amplifiable probes
-
Armour JA, Sismani C, Patsalis PC, Cross G: Measurement of locus copy number by hybridization 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
-
3
-
-
33847390726
-
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
-
Armour JA, Palla R, Zeeuwen PL, den Heijer M, Schalkwijk J, Hollox EJ: Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res 35:e19.1-e19.8 (2007).
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Armour, J.A.1
Palla, R.2
Zeeuwen, P.L.3
den Heijer, M.4
Schalkwijk, J.5
Hollox, E.J.6
-
4
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, et al: Recent segmental duplications in the human genome. Science 297:1003-1007 (2002).
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
-
5
-
-
34447569298
-
Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
-
Beckmann JS, Estivill X, Antonarakis SE: Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 8:639-646 (2007).
-
(2007)
Nat Rev Genet
, vol.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
6
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98% of 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
-
7
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, et al: Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82:763-771 (2008).
-
(2008)
Am J Hum Genet
, vol.82
, pp. 763-771
-
-
Bruder, C.E.1
Piotrowski, A.2
Gijsbers, A.A.3
Andersson, R.4
Erickson, S.5
-
8
-
-
0028214609
-
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification
-
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL: Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 83:1673-1682 (1994).
-
(1994)
Blood
, vol.83
, pp. 1673-1682
-
-
Craig, J.E.1
Barnetson, R.A.2
Prior, J.3
Raven, J.L.4
Thein, S.L.5
-
9
-
-
0026948875
-
Multiple colors by fluorescence in situ hybridization using ratio-labeled DNA probes create a molecular karyotype
-
Dauwerse JG, Wiegant JCAG, Raap AK, Breuning MH, Van Ommen GJB: Multiple colors by fluorescence in situ hybridization using ratio-labeled DNA probes create a molecular karyotype. Hum Mol Genet 1:593-598 (1992).
-
(1992)
Hum Mol Genet
, vol.1
, pp. 593-598
-
-
Dauwerse, J.G.1
Wiegant, J.C.A.G.2
Raap, A.K.3
Breuning, M.H.4
Van Ommen, G.J.B.5
-
10
-
-
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
-
11
-
-
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
-
12
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR: Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 105:16266-16271 (2008).
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
Hudgins, L.4
Quake, S.R.5
-
13
-
-
2442667212
-
Highly parallel SNP genotyping
-
Fan JB, Oliphant A, Shen R, Kermani BG, Garcia F, et al: Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 68:69-78 (2003).
-
(2003)
Cold Spring Harb Symp Quant Biol
, vol.68
, pp. 69-78
-
-
Fan, J.B.1
Oliphant, A.2
Shen, R.3
Kermani, B.G.4
Garcia, F.5
-
14
-
-
0028989174
-
High-resolution FISH for genomic DNA mapping and color 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 color 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
-
15
-
-
40449100030
-
Direct multiplexed measurement of gene expression with color-coded probe pairs
-
Geiss GK, Bumgarner RE, Birditt B, Dahl T, Dowidar N, et al: Direct multiplexed measurement of gene expression with color-coded probe pairs. Nat Biotechnol 26:317-325 (2008).
-
(2008)
Nat Biotechnol
, vol.26
, pp. 317-325
-
-
Geiss, G.K.1
Bumgarner, R.E.2
Birditt, B.3
Dahl, T.4
Dowidar, N.5
-
16
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, et al: A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303 (2004).
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
DeLeeuw, R.J.4
Chi, B.5
-
17
-
-
2442510013
-
Use of the DNA flow-thru chip, a three-dimensional biochip, for typing and subtyping of influenza viruses
-
Kessler N, Ferraris O, Palmer K, Marsh W, Steel A: Use of the DNA flow-thru chip, a three-dimensional biochip, for typing and subtyping of influenza viruses. J Clin Microbiol 42:2173-2185 (2004).
-
(2004)
J Clin Microbiol
, vol.42
, pp. 2173-2185
-
-
Kessler, N.1
Ferraris, O.2
Palmer, K.3
Marsh, W.4
Steel, A.5
-
18
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, et al: Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64 (2008).
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
-
19
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, et al: An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332 (2000).
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
-
20
-
-
0022345559
-
Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization
-
Landegent JE, Jansen in de Wal N, Van Ommen GJB, Baas F, De Vijlder JJM, et al: Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization. Nature 317:175-177 (1985).
-
(1985)
Nature
, vol.317
, pp. 175-177
-
-
Landegent, J.E.1
Jansen in de Wal, N.2
Van Ommen, G.J.B.3
Baas, F.4
De Vijlder, J.J.M.5
-
22
-
-
34748895999
-
Diet and the evolution of human amylase gene copy number variation
-
Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, et al: Diet and the evolution of human amylase gene copy number variation. Nat Genet 39:1256-1260 (2007).
-
(2007)
Nat Genet
, vol.39
, pp. 1256-1260
-
-
Perry, G.H.1
Dominy, N.J.2
Claw, K.G.3
Lee, A.S.4
Fiegler, H.5
-
23
-
-
16944363592
-
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
-
Petrij-Bosch A, Peelen T, Van Vliet M, Van Eijk R, Olmer R, et al: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345 (1997).
-
(1997)
Nat Genet
, vol.17
, pp. 341-345
-
-
Petrij-Bosch, A.1
Peelen, T.2
Van Vliet, M.3
Van Eijk, R.4
Olmer, R.5
-
24
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211 (1998).
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
-
25
-
-
0032823523
-
Genome-wide analysis of DNA copy-number changes using cDNA microarrays
-
Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, et al: Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23:41-46 (1999).
-
(1999)
Nat Genet
, vol.23
, pp. 41-46
-
-
Pollack, J.R.1
Perou, C.M.2
Alizadeh, A.A.3
Eisen, M.B.4
Pergamenschikov, A.5
-
26
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al: Global variation in copy number in the human genome. Nature 444:444-454 (2006).
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
27
-
-
29444442794
-
-
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, et al: APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38:24-26 (2006).
-
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, et al: APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38:24-26 (2006).
-
-
-
-
28
-
-
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
-
29
-
-
33748339365
-
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation- negative SMEI patients
-
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, et al: Microdeletions involving the SCN1A gene may be common in SCN1A-mutation- negative SMEI patients. Hum Mu tat 27:914-920 (2006).
-
(2006)
Hum Mu tat
, vol.27
, pp. 914-920
-
-
Suls, A.1
Claeys, K.G.2
Goossens, D.3
Harding, B.4
Van Luijk, R.5
-
30
-
-
0032736540
-
A new dosage test for subtelomeric 4; 10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
-
Van Der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, et al: A new dosage test for subtelomeric 4; 10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 36:823-828 (1999).
-
(1999)
J Med Genet
, vol.36
, pp. 823-828
-
-
Van Der Maarel, S.M.1
Deidda, G.2
Lemmers, R.J.3
Bakker, E.4
van der Wielen, M.J.5
-
31
-
-
34848904050
-
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation
-
Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, et al: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 81:768-779 (2007).
-
(2007)
Am J Hum Genet
, vol.81
, pp. 768-779
-
-
Wagenstaller, J.1
Spranger, S.2
Lorenz-Depiereux, B.3
Kazmierczak, B.4
Nathrath, M.5
-
32
-
-
33751541872
-
Copy number variation in the genome; the human DMD gene as an example
-
White SJ, den Dunnen JT: Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 115:240-246 (2006).
-
(2006)
Cytogenet Genome Res
, vol.115
, pp. 240-246
-
-
White, S.J.1
den Dunnen, J.T.2
-
33
-
-
3042824616
-
Two-color MLPA; detecting genomic rearrangements in hereditary multiple exostoses
-
White SJ, Vink GR, Kriek M, Wuyts W, Schouten JP, et al: Two-color MLPA; detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 24:86-92 (2004).
-
(2004)
Hum Mutat
, vol.24
, pp. 86-92
-
-
White, S.J.1
Vink, G.R.2
Kriek, M.3
Wuyts, W.4
Schouten, J.P.5
-
34
-
-
4344694341
-
Quantitative assessment of a novel flow-through porous microarray for the rapid analysis of gene expression profiles
-
Wu Y, De Kievit P, Vahlkamp L, Pijnenburg D, Smit M, et al: Quantitative assessment of a novel flow-through porous microarray for the rapid analysis of gene expression profiles. Nucleic Acids Res 32:e123.1-e123.7 (2004).
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Wu, Y.1
De Kievit, P.2
Vahlkamp, L.3
Pijnenburg, D.4
Smit, M.5
-
35
-
-
0030016279
-
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
-
Yau SC, Bobrow M, Mathew CG, Abbs SJ: Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558 (1996).
-
(1996)
J Med Genet
, vol.33
, pp. 550-558
-
-
Yau, S.C.1
Bobrow, M.2
Mathew, C.G.3
Abbs, S.J.4
-
36
-
-
38149091561
-
Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients
-
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, et al: Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 29:190-197 (2008).
-
(2008)
Hum Mutat
, vol.29
, pp. 190-197
-
-
Zeng, F.1
Ren, Z.R.2
Huang, S.Z.3
Kalf, M.4
Mommersteeg, M.5
-
37
-
-
4544354302
-
Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array
-
Zhou X, Mok SC, Chen Z, Li Y, Wong DT: Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array. Hum Genet 115:327-330 (2004).
-
(2004)
Hum Genet
, vol.115
, pp. 327-330
-
-
Zhou, X.1
Mok, S.C.2
Chen, Z.3
Li, Y.4
Wong, D.T.5
|