-
1
-
-
33751329250
-
Global variation in copy number in the human genome
-
DOI 10.1038/nature05329, PII NATURE05329
-
Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., Fiegler, H., Shapero, M.H., Carson, A.R., Chen, W., Cho, E.K., Dallaire, S., Freeman, J.L., Gonzalez, J.R., Gratacos, M., Huang, J., Kalaitzopoulos, D., Komura, D., MacDonald, J.R., Marshall, C.R., Mei, R., Montgomery, L., Nishimura, K., Okamura, K., Shen, F., Somerville, M.J., Tchinda, J., Valsesia, A., Woodwark, C., Yang, F., Zhang, J., Zerjal, T., Zhang, J., Armengol, L., Conrad, D.F., Estivill, X., Tyler-Smith, C., Carter, N.P., Aburatani, H., Lee, C., Jones, K.W., Scherer, S.W., and Hurles, M.E. (2006) Global variation in copy number in the human genome. Nature 444, 444-454. (Pubitemid 44809057)
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
2
-
-
77249119762
-
The landscape of somatic copy-number alteration across human cancers
-
Beroukhim, R., Mermel, C.H., Porter, D., Wei, G., Raychaudhuri, S., Donovan, J., Barretina, J., Boehm, J.S., Dobson, J., Urashima, M., Mc Henry, K.T., Pinchback, R.M., Ligon, A.H., Cho, Y.J., Haery, L., Greulich, H., Reich, M., Winckler, W., Lawrence, M.S., Weir, B.A., Tanaka, K.E., Chiang, D.Y., Bass, A.J., Loo, A., Hoffman, C., Prensner, J., Liefeld, T., Gao, Q., Yecies, D., Signoretti, S., Maher, E., Kaye, F.J., Sasaki, H., Tepper, J.E., Fletcher, J.A., Tabernero, J., Baselga, J., Tsao, M.S., Demichelis, F., Rubin, M.A., Janne, P.A., Daly, M.J., Nucera, C., Levine, R.L., Ebert, B.L., Gabriel, S., Rustgi, A.K., Antonescu, C.R., Ladanyi, M., Letai, A., Garraway, L.A., Loda, M., Beer, D.G., True, L.D., Okamoto, A., Pomeroy, S.L., Singer, S., Golub, T.R., Lander, E.S., Getz, G., Sellers, W.R., and Meyerson, M. (2010) The landscape of somatic copy-number alteration across human cancers. Nature 463, 899-905.
-
(2010)
Nature
, vol.463
, pp. 899-905
-
-
Beroukhim, R.1
Mermel, C.H.2
Porter, D.3
Wei, G.4
Raychaudhuri, S.5
Donovan, J.6
Barretina, J.7
Boehm, J.S.8
Dobson, J.9
Urashima, M.10
Mc Henry, K.T.11
Pinchback, R.M.12
Ligon, A.H.13
Cho, Y.J.14
Haery, L.15
Greulich, H.16
Reich, M.17
Winckler, W.18
Lawrence, M.S.19
Weir, B.A.20
Tanaka, K.E.21
Chiang, D.Y.22
Bass, A.J.23
Loo, A.24
Hoffman, C.25
Prensner, J.26
Liefeld, T.27
Gao, Q.28
Yecies, D.29
Signoretti, S.30
Maher, E.31
Kaye, F.J.32
Sasaki, H.33
Tepper, J.E.34
Fletcher, J.A.35
Tabernero, J.36
Baselga, J.37
Tsao, M.S.38
Demichelis, F.39
Rubin, M.A.40
Janne, P.A.41
Daly, M.J.42
Nucera, C.43
Levine, R.L.44
Ebert, B.L.45
Gabriel, S.46
Rustgi, A.K.47
Antonescu, C.R.48
Ladanyi, M.49
Letai, A.50
Garraway, L.A.51
Loda, M.52
Beer, D.G.53
True, L.D.54
Okamoto, A.55
Pomeroy, S.L.56
Singer, S.57
Golub, T.R.58
Lander, E.S.59
Getz, G.60
Sellers, W.R.61
Meyerson, M.62
more..
-
3
-
-
28844507521
-
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
-
Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., Pagenstecher, C., McLeod, D.R., Graham, G.E., Mangold, E., Santer, R., Propping, P., and Friedl, W. (2005) High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum. Mutat. 26, 513-519.
-
(2005)
Hum. Mutat.
, vol.26
, pp. 513-519
-
-
Aretz, S.1
Stienen, D.2
Uhlhaas, S.3
Loff, S.4
Back, W.5
Pagenstecher, C.6
McLeod, D.R.7
Graham, G.E.8
Mangold, E.9
Santer, R.10
Propping, P.11
Friedl, W.12
-
4
-
-
33751541872
-
Copy number variation in the genome; the human DMD gene as an example
-
White, S.J. and den Dunnen, J.T. (2006) Copy number variation in the genome; the human DMD gene as an example. Cytogenet. Genome Res. 115, 240-246.
-
(2006)
Cytogenet. Genome Res.
, vol.115
, pp. 240-246
-
-
White, S.J.1
Den Dunnen, J.T.2
-
5
-
-
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., Agata, S., De Nicolo, A., Chieco-Bianchi, L., and D'Andrea, E. (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
Agata, S.4
De Nicolo, A.5
Chieco-Bianchi, L.6
D'Andrea, E.7
-
6
-
-
34147099632
-
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
-
Kozlowski, P., Roberts, P., Dabora, S., Franz, D., Bissler, J., Northrup, H., Au, K.S., Lazarus, R., Domanska-Pakiela, D., Kotulska, K., Jozwiak, S., and Kwiatkowski, D.J. (2007) Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum. Genet. 121, 389-400.
-
(2007)
Hum. Genet.
, vol.121
, pp. 389-400
-
-
Kozlowski, P.1
Roberts, P.2
Dabora, S.3
Franz, D.4
Bissler, J.5
Northrup, H.6
Au, K.S.7
Lazarus, R.8
Domanska-Pakiela, D.9
Kotulska, K.10
Jozwiak, S.11
Kwiatkowski, D.J.12
-
7
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
DOI 10.1016/S0168-9525(02)02592-1, PII S0168952501025926
-
Stankiewicz, P. and Lupski, J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82. (Pubitemid 34127806)
-
(2002)
Trends in Genetics
, vol.18
, Issue.2
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
8
-
-
36248980204
-
Characterizing the cancer genome in lung adenocarcinoma
-
Weir, B.A., Woo, M.S., Getz, G., Perner, S., Ding, L., Beroukhim, R., Lin, W.M., Province, M.A., Kraja, A., Johnson, L.A., Shah, K., Sato, M., Thomas, R.K., Barletta, J.A., Borecki, I.B., Broderick, S., Chang, A.C., Chiang, D.Y., Chirieac, L.R., Cho, J., Fujii, Y., Gazdar, A.F., Giordano, T., Greulich, H., Hanna, M., Johnson, B.E., Kris, M.G., Lash, A., Lin, L., Lindeman, N., Mardis, E.R., McPherson, J.D., Minna, J.D., Morgan, M.B., Nadel, M., Orringer, M.B., Osborne, J.R., Ozenberger, B., Ramos, A.H., Robinson, J., Roth, J.A., Rusch, V., Sasaki, H., Shepherd, F., Sougnez, C., Spitz, M.R., Tsao, M.S., Twomey, D., Verhaak, R.G., Weinstock, G.M., Wheeler, D.A., Winckler, W., Yoshizawa, A., Yu, S., Zakowski, M.F., Zhang, Q., Beer, D.G., Wistuba, II, Watson, M.A., Garraway, L.A., Ladanyi, M., Travis, W.D., Pao, W., Rubin, M.A., Gabriel, S.B., Gibbs, R.A., Varmus, H.E., Wilson, R.K., Lander, E.S., and Meyerson, M. (2007) Characterizing the cancer genome in lung adenocarcinoma. Nature 450, 893-898.
-
(2007)
Nature
, vol.450
, pp. 893-898
-
-
Weir, B.A.1
Woo, M.S.2
Getz, G.3
Perner, S.4
Ding, L.5
Beroukhim, R.6
Lin, W.M.7
Province, M.A.8
Kraja, A.9
Johnson, L.A.10
Shah, K.11
Sato, M.12
Thomas, R.K.13
Barletta, J.A.14
Borecki, I.B.15
Broderick, S.16
Chang, A.C.17
Chiang, D.Y.18
Chirieac, L.R.19
Cho, J.20
Fujii, Y.21
Gazdar, A.F.22
Giordano, T.23
Greulich, H.24
Hanna, M.25
Johnson, B.E.26
Kris, M.G.27
Lash, A.28
Lin, L.29
Lindeman, N.30
Mardis, E.R.31
McPherson, J.D.32
Minna, J.D.33
Morgan, M.B.34
Nadel, M.35
Orringer, M.B.36
Osborne, J.R.37
Ozenberger, B.38
Ramos, A.H.39
Robinson, J.40
Roth, J.A.41
Rusch, V.42
Sasaki, H.43
Shepherd, F.44
Sougnez, C.45
Spitz, M.R.46
Tsao, M.S.47
Twomey, D.48
Verhaak, R.G.49
Weinstock, G.M.50
Wheeler, D.A.51
Winckler, W.52
Yoshizawa, A.53
Yu, S.54
Zakowski, M.F.55
Zhang, Q.56
Beer, D.G.57
Wistuba, I.I.58
Watson, M.A.59
Garraway, L.A.60
Ladanyi, M.61
Travis, W.D.62
Pao, W.63
Rubin, M.A.64
Gabriel, S.B.65
Gibbs, R.A.66
Varmus, H.E.67
Wilson, R.K.68
Lander, E.S.69
Meyerson, M.70
more..
-
9
-
-
34347339520
-
Methods and strategies for analyzing copy number variation using DNA microarrays
-
Carter, N.P. (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat. Genet. 39, S16-21.
-
(2007)
Nat. Genet.
, vol.39
-
-
Carter, N.P.1
-
10
-
-
58149218240
-
High-resolution mapping of copy-number alterations with massively parallel sequencing
-
Chiang, D.Y., Getz, G., Jaffe, D.B., O'Kelly, M.J., Zhao, X., Carter, S.L., Russ, C., Nusbaum, C., Meyerson, M., and Lander, E.S. (2009) High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat. Methods 6, 99-103.
-
(2009)
Nat. Methods
, vol.6
, pp. 99-103
-
-
Chiang, D.Y.1
Getz, G.2
Jaffe, D.B.3
O'Kelly, M.J.4
Zhao, X.5
Carter, S.L.6
Russ, C.7
Nusbaum, C.8
Meyerson, M.9
Lander, E.S.10
-
11
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M.H., de Bakker, P.I., Maller, J.B., Kirby, A., Elliott, A.L., Parkin, M., Hubbell, E., Webster, T., Mei, R., Veitch, J., Collins, P.J., Handsaker, R., Lincoln, S., Nizzari, M., Blume, J., Jones, K.W., Rava, R., Daly, M.J., Gabriel, S.B., and Altshuler, D. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 40, 1166-1174.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
De Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
12
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad, D.F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T.D., Barnes, C., Campbell, P., Fitzgerald, T., Hu, M., Ihm, C.H., Kristiansson, K., Macarthur, D.G., Macdonald, J.R., Onyiah, I., Pang, A.W., Robson, S., Stirrups, K., Valsesia, A., Walter, K., Wei, J., Tyler-Smith, C., Carter, N.P., Lee, C., Scherer, S.W., and Hurles, M.E. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464, 704-712.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
Fitzgerald, T.11
Hu, M.12
Ihm, C.H.13
Kristiansson, K.14
Macarthur, D.G.15
Macdonald, J.R.16
Onyiah, I.17
Pang, A.W.18
Robson, S.19
Stirrups, K.20
Valsesia, A.21
Walter, K.22
Wei, J.23
Tyler-Smith, C.24
Carter, N.P.25
Lee, C.26
Scherer, S.W.27
Hurles, M.E.28
more..
-
13
-
-
77951700086
-
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
-
Conrad, D.F., Bird, C., Blackburne, B., Lindsay, S., Mamanova, L., Lee, C., Turner, D.J., and Hurles, M.E. (2010) Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat. Genet. 42, 385-391.
-
(2010)
Nat. Genet.
, vol.42
, pp. 385-391
-
-
Conrad, D.F.1
Bird, C.2
Blackburne, B.3
Lindsay, S.4
Mamanova, L.5
Lee, C.6
Turner, D.J.7
Hurles, M.E.8
-
14
-
-
59449105394
-
New applications and developments in the use of multiplex ligation-dependent probe amplification
-
Kozlowski, P., Jasinska, A.J., and Kwiatkowski, D.J. (2008) New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis 29, 4627-4636.
-
(2008)
Electrophoresis
, vol.29
, pp. 4627-4636
-
-
Kozlowski, P.1
Jasinska, A.J.2
Kwiatkowski, D.J.3
-
15
-
-
2342578875
-
MLPA and MAPH: New techniques for detection of gene deletions
-
Sellner, L.N. and Taylor, G.R. (2004) MLPA and MAPH: new techniques for detection of gene deletions. Hum. Mutat. 23, 413-419.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
16
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten, J.P., McElgunn, C.J., Waaijer, R., Zwijnenburg, D., Diepvens, F., and Pals, G. (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
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
17
-
-
24044464247
-
Methylation-specific MLPA (MS-MLPA): Simultaneous detection of CpG methylation and copy number changes of up to 40 sequences
-
Nygren, A.O., Ameziane, N., Duarte, H.M., Vijzelaar, R.N., Waisfisz, Q., Hess, C.J., Schouten, J.P., and Errami, A. (2005) Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res. 33, e128.
-
(2005)
Nucleic Acids Res.
, vol.33
-
-
Nygren, A.O.1
Ameziane, N.2
Duarte, H.M.3
Vijzelaar, R.N.4
Waisfisz, Q.5
Hess, C.J.6
Schouten, J.P.7
Errami, A.8
-
18
-
-
38349028666
-
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots
-
Kozlowski, P., Bissler, J., Pei, Y., and Kwiatkowski, D.J. (2008) Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics 91, 203-208.
-
(2008)
Genomics
, vol.91
, pp. 203-208
-
-
Kozlowski, P.1
Bissler, J.2
Pei, Y.3
Kwiatkowski, D.J.4
-
19
-
-
56549105426
-
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
-
Consugar, M.B., Wong, W.C., Lundquist, P.A., Rossetti, S., Kubly, V.J., Walker, D.L., Rangel, L.J., Aspinwall, R., Niaudet, W.P., Ozen, S., David, A., Velinov, M., Bergstralh, E.J., Bae, K.T., Chapman, A.B., Guay-Woodford, L.M., Grantham, J.J., Torres, V.E., Sampson, J.R., Dawson, B.D., and Harris, P.C. (2008) Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int. 74, 1468-1479.
-
(2008)
Kidney Int.
, vol.74
, pp. 1468-1479
-
-
Consugar, M.B.1
Wong, W.C.2
Lundquist, P.A.3
Rossetti, S.4
Kubly, V.J.5
Walker, D.L.6
Rangel, L.J.7
Aspinwall, R.8
Niaudet, W.P.9
Ozen, S.10
David, A.11
Velinov, M.12
Bergstralh, E.J.13
Bae, K.T.14
Chapman, A.B.15
Guay-Woodford, L.M.16
Grantham, J.J.17
Torres, V.E.18
Sampson, J.R.19
Dawson, B.D.20
Harris, P.C.21
more..
-
20
-
-
84883843144
-
Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signalling pathways
-
Eldering, E., Spek, C.A., Aberson, H.L., Grummels, A., Derks, I.A., de Vos, A.F., McElgunn, C.J., and Schouten, J.P. (2003) Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signalling pathways. Nucleic Acids Res. 31, e153.
-
(2003)
Nucleic Acids Res.
, vol.31
-
-
Eldering, E.1
Spek, C.A.2
Aberson, H.L.3
Grummels, A.4
Derks, I.A.5
De Vos, A.F.6
McElgunn, C.J.7
Schouten, J.P.8
-
21
-
-
34250628117
-
Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay
-
586, 588
-
Kozlowski, P., Lin, M., Meikle, L., and Kwiatkowski, D.J. (2007) Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. Biotechniques 42, 584, 586, 588.
-
(2007)
Biotechniques
, vol.42
, pp. 584
-
-
Kozlowski, P.1
Lin, M.2
Meikle, L.3
Kwiatkowski, D.J.4
-
22
-
-
70349671441
-
Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified multiplex ligation-dependent probe amplification approach
-
Ohnesorg, T., Eggers, S., Leonhard, W.N., Sinclair, A.H., and White, S.J. (2009) Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified multiplex ligation-dependent probe amplification approach. BMC Genomics 10, 412.
-
(2009)
BMC Genomics
, vol.10
, pp. 412
-
-
Ohnesorg, T.1
Eggers, S.2
Leonhard, W.N.3
Sinclair, A.H.4
White, S.J.5
-
23
-
-
77949655175
-
TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity
-
Liang, M.C., Ma, J., Chen, L., Kozlowski, P., Qin, W., Li, D., Goto, J., Shimamura, T., Hayes, D.N., Meyerson, M., Kwiatkowski, D.J., and Wong, K.K. (2010) TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Oncogene 29, 1588-1597.
-
(2010)
Oncogene
, vol.29
, pp. 1588-1597
-
-
Liang, M.C.1
Ma, J.2
Chen, L.3
Kozlowski, P.4
Qin, W.5
Li, D.6
Goto, J.7
Shimamura, T.8
Hayes, D.N.9
Meyerson, M.10
Kwiatkowski, D.J.11
Wong, K.K.12
-
24
-
-
3042824616
-
Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
-
DOI 10.1002/humu.20054
-
White, S.J., Vink, G.R., Kriek, M., Wuyts, W., Schouten, J., Bakker, B., Breuning, M.H., and den Dunnen, J.T. (2004) Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum. Mutat. 24, 86-92. (Pubitemid 38859227)
-
(2004)
Human Mutation
, vol.24
, Issue.1
, pp. 86-92
-
-
White, S.J.1
Vink, G.R.2
Kriek, M.3
Wuyts, W.4
Schouten, J.5
Bakker, B.6
Breuning, M.H.7
Den Dunnen, J.T.8
-
25
-
-
34249050085
-
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
-
Kantarci, S. and Donahoe, P.K. (2007) Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. Am. J. Med. Genet. C Semin. Med. Genet. 145, 217-226.
-
(2007)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.145
, pp. 217-226
-
-
Kantarci, S.1
Donahoe, P.K.2
-
26
-
-
77951942018
-
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease
-
Sanchez-Mejias, A., Nunez-Torres, R., Fernandez, R.M., Antinolo, G., and Borrego, S. (2010) Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease. BMC Med. Genet. 11, 71.
-
(2010)
BMC Med. Genet.
, vol.11
, pp. 71
-
-
Sanchez-Mejias, A.1
Nunez-Torres, R.2
Fernandez, R.M.3
Antinolo, G.4
Borrego, S.5
-
27
-
-
77954350151
-
Custom-designed MLPA using multiple short synthetic probes: Application to methylation analysis of five promoter CpG islands in tumor and urine specimens from patients with bladder cancer
-
Serizawa, R.R., Ralfkiaer, U., Dahl, C., Lam, G.W., Hansen, A.B., Steven, K., Horn, T., and Guldberg, P. (2010) Custom-designed MLPA using multiple short synthetic probes: application to methylation analysis of five promoter CpG islands in tumor and urine specimens from patients with bladder cancer. J. Mol. Diagn. 12, 402-408.
-
(2010)
J. Mol. Diagn.
, vol.12
, pp. 402-408
-
-
Serizawa, R.R.1
Ralfkiaer, U.2
Dahl, C.3
Lam, G.W.4
Hansen, A.B.5
Steven, K.6
Horn, T.7
Guldberg, P.8
-
28
-
-
77950867731
-
Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene
-
Coutton, C., Monnier, N., Rendu, J., and Lunardi, J. (2010) Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene. Clin. Biochem. 43, 609-614.
-
(2010)
Clin. Biochem.
, vol.43
, pp. 609-614
-
-
Coutton, C.1
Monnier, N.2
Rendu, J.3
Lunardi, J.4
-
29
-
-
52749083383
-
Somatic mutations of the tyrosine kinase domain of epidermal growth factor receptor and tyrosine kinase inhibitor response to TKIs in non-small cell lung cancer: An analytical database
-
Murray, S., Dahabreh, I.J., Linardou, H., Manoloukos, M., Bafaloukos, D., and Kosmidis, P. (2008) Somatic mutations of the tyrosine kinase domain of epidermal growth factor receptor and tyrosine kinase inhibitor response to TKIs in non-small cell lung cancer: an analytical database. J. Thorac. Oncol. 3, 832-839.
-
(2008)
J. Thorac. Oncol.
, vol.3
, pp. 832-839
-
-
Murray, S.1
Dahabreh, I.J.2
Linardou, H.3
Manoloukos, M.4
Bafaloukos, D.5
Kosmidis, P.6
-
30
-
-
68949201629
-
Activating and resistance mutations of EGFR in non-small-cell lung cancer: Role in clinical response to EGFR tyrosine kinase inhibitors
-
Gazdar, A.F. (2009) Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors. Oncogene 28(Suppl 1), S24-31.
-
(2009)
Oncogene
, vol.28
, Issue.SUPPL. 1
-
-
Gazdar, A.F.1
-
31
-
-
2342471392
-
Activating Mutations in the Epidermal Growth Factor Receptor Underlying Responsiveness of Non-Small-Cell Lung Cancer to Gefitinib
-
DOI 10.1056/NEJMoa040938
-
Lynch, T.J., Bell, D.W., Sordella, R., Gurubhagavatula, S., Okimoto, R.A., Brannigan, B.W., Harris, P.L., Haserlat, S.M., Supko, J.G., Haluska, F.G., Louis, D.N., Christiani, D.C., Settleman, J., and Haber, D.A. (2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350, 2129-2139. (Pubitemid 38637993)
-
(2004)
New England Journal of Medicine
, vol.350
, Issue.21
, pp. 2129-2139
-
-
Lynch, T.J.1
Bell, D.W.2
Sordella, R.3
Gurubhagavatula, S.4
Okimoto, R.A.5
Brannigan, B.W.6
Harris, P.L.7
Haserlat, S.M.8
Supko, J.G.9
Haluska, F.G.10
Louis, D.N.11
Christiani, D.C.12
Settleman, J.13
Haber, D.A.14
-
32
-
-
2342624080
-
EGFR mutations in lung cancer: Correlation with clinical response to gefitinib therapy
-
Paez, J.G., Janne, P.A., Lee, J.C., Tracy, S., Greulich, H., Gabriel, S., Herman, P., Kaye, F.J., Lindeman, N., Boggon, T.J., Naoki, K., Sasaki, H., Fujii, Y., Eck, M.J., Sellers, W.R., Johnson, B.E., and Meyerson, M. (2004) EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304, 1497-1500.
-
(2004)
Science
, vol.304
, pp. 1497-1500
-
-
Paez, J.G.1
Janne, P.A.2
Lee, J.C.3
Tracy, S.4
Greulich, H.5
Gabriel, S.6
Herman, P.7
Kaye, F.J.8
Lindeman, N.9
Boggon, T.J.10
Naoki, K.11
Sasaki, H.12
Fujii, Y.13
Eck, M.J.14
Sellers, W.R.15
Johnson, B.E.16
Meyerson, M.17
-
33
-
-
13844317894
-
EGFR mutation and resistance of non-small-cell lung cancer to gefitinib
-
DOI 10.1056/NEJMoa044238
-
Kobayashi, S., Boggon, T.J., Dayaram, T., Janne, P.A., Kocher, O., Meyerson, M., Johnson, B.E., Eck, M.J., Tenen, D.G., and Halmos, B. (2005) EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 352, 786-792. (Pubitemid 40271173)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.8
, pp. 786-792
-
-
Kobayashi, S.1
Boggon, T.J.2
Dayaram, T.3
Janne, P.A.4
Kocher, O.5
Meyerson, M.6
Johnson, B.E.7
Eck, M.J.8
Tenen, D.G.9
Halmos, B.10
-
34
-
-
77951643141
-
Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor
-
Ercan, D., Zejnullahu, K., Yonesaka, K., Xiao, Y., Capelletti, M., Rogers, A., Lifshits, E., Brown, A., Lee, C., Christensen, J.G., Kwiatkowski, D.J., Engelman, J.A., and Janne, P.A. (2010) Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene 29, 2346-2356.
-
(2010)
Oncogene
, vol.29
, pp. 2346-2356
-
-
Ercan, D.1
Zejnullahu, K.2
Yonesaka, K.3
Xiao, Y.4
Capelletti, M.5
Rogers, A.6
Lifshits, E.7
Brown, A.8
Lee, C.9
Christensen, J.G.10
Kwiatkowski, D.J.11
Engelman, J.A.12
Janne, P.A.13
-
35
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara, A., Cooper, G.M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R.M., Myers, R.M., Ridker, P.M., Chasman, D.I., Mefford, H., Ying, P., Nickerson, D.A., and Eichler, E.E. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148-161.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
Absher, D.6
Krauss, R.M.7
Myers, R.M.8
Ridker, P.M.9
Chasman, D.I.10
Mefford, H.11
Ying, P.12
Nickerson, D.A.13
Eichler, E.E.14
-
36
-
-
77955349659
-
A simple way to evaluate self-designed probes for tumor specific multiplex ligation-dependent probe amplification (MLPA)
-
Pedersen, K., Wiechec, E., Madsen, B.E., Overgaard, J., and Hansen, L.L. (2010) A simple way to evaluate self-designed probes for tumor specific multiplex ligation-dependent probe amplification (MLPA). BMC Res. Notes 3, 179.
-
(2010)
BMC Res. Notes
, vol.3
, pp. 179
-
-
Pedersen, K.1
Wiechec, E.2
Madsen, B.E.3
Overgaard, J.4
Hansen, L.L.5
-
37
-
-
32544441269
-
Spectrum of single- And multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
-
Wimmer, K., Yao, S., Claes, K., Kehrer-Sawatzki, H., Tinschert, S., De Raedt, T., Legius, E., Callens, T., Beiglbock, H., Maertens, O., and Messiaen, L. (2006) Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 45, 265-276.
-
(2006)
Genes Chromosomes Cancer
, vol.45
, pp. 265-276
-
-
Wimmer, K.1
Yao, S.2
Claes, K.3
Kehrer-Sawatzki, H.4
Tinschert, S.5
De Raedt, T.6
Legius, E.7
Callens, T.8
Beiglbock, H.9
Maertens, O.10
Messiaen, L.11
-
38
-
-
38149091561
-
Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients
-
Zeng, F., Ren, Z.R., Huang, S.Z., Kalf, M., Mommersteeg, M., Smit, M., White, S., Jin, C.L., Xu, M., Zhou, D.W., Yan, J.B., Chen, M.J., van Beuningen, R., Huang, S.Z., den Dunnen, J., Zeng, Y.T., and Wu, Y. (2008) Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum. Mutat. 29, 190-197.
-
(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
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
|