-
1
-
-
20944442436
-
Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains
-
DOI 10.1038/ng1551
-
Adams, D.J., Dermitzakis, E.T., Cox, T., Smith, J., Davies, R., Banerjee, R., Bonfield, J., Mullikin, J.C., Chung, Y.J., Rogers, J., and Bradley, A. (2005) Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains Nat. Genet. 37, 532-536 (Pubitemid 40617283)
-
(2005)
Nature Genetics
, vol.37
, Issue.5
, pp. 532-536
-
-
Adams, D.J.1
Dermitzakis, E.T.2
Cox, T.3
Smith, J.4
Davies, R.5
Banerjee, R.6
Bonfield, J.7
Mullikin, J.C.8
Chung, Y.J.9
Rogers, J.10
Bradley, A.11
-
2
-
-
35649018206
-
Recurrent DNA copy number variation in the laboratory mouse
-
DOI 10.1038/ng.2007.19, PII NG200719
-
Egan, C.M., Sridhar, S., Wigler, M., and Hall, I.M. (2007) Recurrent DNA copy number variation in the laboratory mouse Nat.Genet. 39, 1384-1389 (Pubitemid 350034999)
-
(2007)
Nature Genetics
, vol.39
, Issue.11
, pp. 1384-1389
-
-
Egan, C.M.1
Sridhar, S.2
Wigler, M.3
Hall, I.M.4
-
3
-
-
63449117467
-
Segmental copy number variation shapes tissue transcriptomes
-
Henrichsen, C.N., Vinckenbosch, N., Zollner, S., Chaignat, E., Pradervand, S., Schutz, F., Ruedi, M., Kaessmann, H., and Reymond, A. (2009) Segmental copy number variation shapes tissue transcriptomes Nat.Genet. 41, 424-429
-
(2009)
Nat.Genet.
, vol.41
, pp. 424-429
-
-
Henrichsen, C.N.1
Vinckenbosch, N.2
Zollner, S.3
Chaignat, E.4
Pradervand, S.5
Schutz, F.6
Ruedi, M.7
Kaessmann, H.8
Reymond, A.9
-
4
-
-
63149198301
-
Copy number variants, diseases and gene expression
-
Henrichsen, C.N., Chaignat, E., and Reymond, A. (2009) Copy number variants, diseases and gene expression Hum.Mol.Genet. 18, R1-R8
-
(2009)
Hum.Mol.Genet.
, vol.18
-
-
Henrichsen, C.N.1
Chaignat, E.2
Reymond, A.3
-
5
-
-
42649117472
-
Distribution and functional impact of DNA copy number variation in the rat
-
DOI 10.1038/ng.141, PII NG141
-
Guryev, V., Saar, K., Adamovic, T., Verheul, M., van Heesch, S.A., Cook, S., Pravenec, M., Aitman, T., Jacob, H., Shull, J.D., Hubner, N., and Cuppen, E. (2008) Distribution and functional impact of DNA copy number variation in the rat Nat.Genet. 40, 538-545 (Pubitemid 351601223)
-
(2008)
Nature Genetics
, vol.40
, Issue.5
, pp. 538-545
-
-
Guryev, V.1
Saar, K.2
Adamovic, T.3
Verheul, M.4
Van Heesch, S.A.A.C.5
Cook, S.6
Pravenec, M.7
Aitman, T.8
Jacob, H.9
Shull, J.D.10
Hubner, N.11
Cuppen, E.12
-
6
-
-
38049150491
-
A portrait of copy-number polymorphism in Drosophila melanogaster
-
Dopman, E.B. and Hartl, D.L. (2007) A portrait of copy-number polymorphism in Drosophila melanogaster Proc.Natl.Acad.Sci. USA 104, 19920-19925
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 19920-19925
-
-
Dopman, E.B.1
Hartl, D.L.2
-
7
-
-
46249105777
-
Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster
-
DOI 10.1126/science.1158078
-
Emerson, J.J., Cardoso-Moreira, M., Borevitz, J.O., and Long, M. (2008) Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster Science 320, 1629-1631 (Pubitemid 351931251)
-
(2008)
Science
, vol.320
, Issue.5883
, pp. 1629-1631
-
-
Emerson, J.J.1
Cardoso-Moreira, M.2
Borevitz, J.O.3
Long, M.4
-
8
-
-
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..
-
9
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
DOI 10.1038/ng1562
-
Tuzun, E., Sharp, A.J., Bailey, J.A., Kaul, R., Morrison, V.A., Pertz, L.M., Haugen, E., Hayden, H., Albertson, D., Pinkel, D., Olson, M.V., and Eichler, E.E. (2005) Fine-scale structural variation of the human genome Nat. Genet. 37, 727-732 (Pubitemid 41754889)
-
(2005)
Nature Genetics
, vol.37
, Issue.7
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
Olson, M.V.11
Eichler, E.E.12
-
10
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
DOI 10.1086/431652
-
Sharp, A.J., Locke, D.P., McGrath, S.D., Cheng, Z., Bailey, J.A., Vallente, R.U., Pertz, L.M., Clark, R.A., Schwartz, S., Segraves, R., Oseroff, V.V., Albertson, D.G., Pinkel, D., and Eichler, E.E. (2005) Segmental duplications and copy-number variation in the human genome Am.J.Hum.Genet. 77, 78-88 (Pubitemid 40848038)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.1
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
Oseroff, V.V.11
Albertson, D.G.12
Pinkel, D.13
Eichler, E.E.14
-
11
-
-
33744455443
-
Hotspots for copy number variation in chimpanzees and humans
-
DOI 10.1073/pnas.0602318103
-
Perry, G.H., Tchinda, J., McGrath, S.D., Zhang, J., Picker, S.R., Caceres, A.M., Iafrate, A.J., Tyler-Smith, C., Scherer, S.W., Eichler, E.E., Stone, A.C., and Lee, C. (2006) Hotspots for copy number variation in chimpanzees and humans Proc.Natl.Acad.Sci. USA 103, 8006-8011 (Pubitemid 43801043)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.21
, pp. 8006-8011
-
-
Perry, G.H.1
Tchinda, J.2
McGrath, S.D.3
Zhang, J.4
Picker, S.R.5
Caceres, A.M.6
Iafrate, A.J.7
Tyler-Smith, C.8
Scherer, S.W.9
Eichler, E.E.10
Stone, A.C.11
Lee, C.12
-
12
-
-
33846376502
-
Structural divergence between the human and chimpanzee genomes
-
DOI 10.1007/s00439-006-0270-6
-
Kehrer-Sawatzki, H. and Cooper, D.N. (2007) Structural divergence between the human and chimpanzee genomes Hum.Genet. 120, 759-778 (Pubitemid 46128832)
-
(2007)
Human Genetics
, vol.120
, Issue.6
, pp. 759-778
-
-
Kehrer-Sawatzki, H.1
Cooper, D.N.2
-
13
-
-
41849091509
-
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies
-
DOI 10.1093/hmg/ddn002
-
Lee, A.S., Gutierrez-Arcelus, M., Perry, G.H., Vallender, E.J., Johnson, W.E., Miller, G.M., Korbel, J.O., and Lee, C. (2008) Analysis of copy number variation in the rhesus macaque genome identifi es candidate loci for evolutionary and human disease studies Hum.Mol.Genet. 17, 1127-1136 (Pubitemid 351494184)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.8
, pp. 1127-1136
-
-
Lee, A.S.1
Gutierrez-Arcelus, M.2
Perry, G.H.3
Vallender, E.J.4
Johnson, W.E.5
Miller, G.M.6
Korbel, J.O.7
Lee, C.8
-
14
-
-
61849154119
-
Mapping DNA structural variation in dogs
-
Chen, W.K., Swartz, J.D., Rush, L.J., and Alvarez, C.E. (2009) Mapping DNA structural variation in dogs Genome Res. 19, 500-509
-
(2009)
Genome Res.
, vol.19
, pp. 500-509
-
-
Chen, W.K.1
Swartz, J.D.2
Rush, L.J.3
Alvarez, C.E.4
-
15
-
-
61849144443
-
The genomic architecture of segmental duplications and associated copy number variants in dogs
-
Nicholas, T.J., Cheng, Z., Ventura, M., Mealey, K., Eichler, E.E., and Akey, J.M. (2009) The genomic architecture of segmental duplications and associated copy number variants in dogs Genome Res. 19, 491-499
-
(2009)
Genome Res.
, vol.19
, pp. 491-499
-
-
Nicholas, T.J.1
Cheng, Z.2
Ventura, M.3
Mealey, K.4
Eichler, E.E.5
Akey, J.M.6
-
16
-
-
77951798133
-
Analysis of copy number variations among diverse cattle breeds
-
Liu, G.E., Hou, Y., Zhu, B., Cardone, M.F., Jiang, L., Cellamare, A., Mitra, A., Alexander, L.J., Coutinho, L.L., Dellaquila, M.E., Gasbarre, L.C., Lacalandra, G., Li, R.W., Matukumalli, L.K., Nonneman, D., Regitano, L.C., Smith, T.P., Song, J., Sonstegard, T.S., Van Tassell, C.P., Ventura, M., Eichler, E.E., McDaneld, T.G., and Keele, J.W. (2010) Analysis of copy number variations among diverse cattle breeds Genome Res.
-
(2010)
Genome Res
-
-
Liu, G.E.1
Hou, Y.2
Zhu, B.3
Cardone, M.F.4
Jiang, L.5
Cellamare, A.6
Mitra, A.7
Alexander, L.J.8
Coutinho, L.L.9
Dellaquila, M.E.10
Gasbarre, L.C.11
Lacalandra, G.12
Li, R.W.13
Matukumalli, L.K.14
Nonneman, D.15
Regitano, L.C.16
Smith, T.P.17
Song, J.18
Sonstegard, T.S.19
Van Tassell, C.P.20
Ventura, M.21
Eichler, E.E.22
McDaneld, T.G.23
Keele, J.W.24
more..
-
17
-
-
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..
-
18
-
-
0034891937
-
Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations
-
Ogilvie, C.M., Braude, P., and Scriven, P.N. (2001) Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations Hum. Fertil.(Camb.) 4, 168-171 (Pubitemid 32780734)
-
(2001)
Human Fertility
, vol.4
, Issue.3
, pp. 168-171
-
-
Ogilvie, C.M.1
Braude, P.2
Scriven, P.N.3
-
19
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
Warburton, D. (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identifi ed at prenatal diagnosis: clinical signifi cance and distribution of breakpoints Am.J.Hum.Genet 49, 995-1013 (Pubitemid 21891747)
-
(1991)
American Journal of Human Genetics
, vol.49
, Issue.5
, pp. 995-1013
-
-
Warburton, D.1
-
20
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J.R., Oca-Luna, R.M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A., and Patel, P.I. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 66, 219-232 (Pubitemid 121001361)
-
(1991)
Cell
, vol.66
, Issue.2
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
21
-
-
69549118484
-
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
-
Balikova, I., Lehesjoki, A.E., de Ravel, T.J., Thienpont, B., Chandler, K.E., Clayton-Smith, J., Traskelin, A.L., Fryns, J.P., and Vermeesch, J.R. (2009) Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome Hum. Mutat. 30, E845-E854
-
(2009)
Hum. Mutat.
, vol.30
-
-
Balikova, I.1
Lehesjoki, A.E.2
De Ravel, T.J.3
Thienpont, B.4
Chandler, K.E.5
Clayton-Smith, J.6
Traskelin, A.L.7
Fryns, J.P.8
Vermeesch, J.R.9
-
22
-
-
50149111099
-
A novel genomic disorder: A deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay
-
Breckpot, J., Takiyama, Y., Thienpont, B., Van Vooren, S., Vermeesch, J.R., Ortibus, E., and Devriendt, K. (2008) A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay Eur.J.Hum. Genet. 16, 1050-1054
-
(2008)
Eur. J. Hum Genet.
, vol.16
, pp. 1050-1054
-
-
Breckpot, J.1
Takiyama, Y.2
Thienpont, B.3
Van Vooren, S.4
Vermeesch, J.R.5
Ortibus, E.6
Devriendt, K.7
-
23
-
-
33748673792
-
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
-
DOI 10.1086/507567
-
Lesnik Oberstein, S.A., Kriek, M., White, S.J., Kalf, M.E., Szuhai, K., den Dunnen, J.T., Breuning, M.H., and Hennekam, R.C. (2006) Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase Am.J.Hum.Genet. 79, 562-566 (Pubitemid 44384266)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.3
, pp. 562-566
-
-
Lesnik Oberstein, S.A.J.1
Kriek, M.2
White, S.J.3
Kalf, M.E.4
Szuhai, K.5
Den Dunnen, J.T.6
Breuning, M.H.7
Hennekam, R.C.M.8
-
24
-
-
38049055222
-
Genomic copy number and expression variation within the C57BL/6J inbred mouse strain
-
Watkins-Chow, D.E. and Pavan, W.J. (2008) Genomic copy number and expression variation within the C57BL/6J inbred mouse strain Genome Res. 18, 60-66
-
(2008)
Genome Res.
, vol.18
, pp. 60-66
-
-
Watkins-Chow, D.E.1
Pavan, W.J.2
-
25
-
-
64149103056
-
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
-
Dathe, K., Kjaer, K.W., Brehm, A., Meinecke, P., Nurnberg, P., Neto, J.C., Brunoni, D., Tommerup, N., Ott, C.E., Klopocki, E., Seemann, P., and Mundlos, S. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2 Am.J.Hum.Genet. 84, 483-492
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 483-492
-
-
Dathe, K.1
Kjaer, K.W.2
Brehm, A.3
Meinecke, P.4
Nurnberg, P.5
Neto, J.C.6
Brunoni, D.7
Tommerup, N.8
Ott, C.E.9
Klopocki, E.10
Seemann, P.11
Mundlos, S.12
-
26
-
-
77949654002
-
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
-
Weterman, M.A., van Ruissen, F., de Wissel, M., Bordewijk, L., Samijn, J.P., van der Pol, W.L., Meggouh, F., and Baas, F. (2010) Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease Eur.J.Hum.Genet. 18, 421-428
-
(2010)
Eur.J.Hum.Genet.
, vol.18
, pp. 421-428
-
-
Weterman, M.A.1
Van Ruissen, F.2
De Wissel, M.3
Bordewijk, L.4
Samijn, J.P.5
Van Der Pol, W.L.6
Meggouh, F.7
Baas, F.8
-
27
-
-
32044441668
-
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect
-
DOI 10.1002/ana.20732
-
Lee, J.A., Madrid, R.E., Sperle, K., Ritterson, C.M., Hobson, G.M., Garbern, J., Lupski, J.R., and Inoue, K. (2006) Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect Ann.Neurol. 59, 398-403 (Pubitemid 43202498)
-
(2006)
Annals of Neurology
, vol.59
, Issue.2
, pp. 398-403
-
-
Lee, J.A.1
Madrid, R.E.2
Sperle, K.3
Ritterson, C.M.4
Hobson, G.M.5
Garbern, J.6
Lupski, J.R.7
Inoue, K.8
-
28
-
-
77449106150
-
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)
-
Brown, K.K., Reiss, J.A., Crow, K., Ferguson, H.L., Kelly, C., Fritzsch, B., and Morton, C.C. (2010) Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35) Hum.Genet. 127, 19-31
-
(2010)
Hum. Genet.
, vol.127
, pp. 19-31
-
-
Brown, K.K.1
Reiss, J.A.2
Crow, K.3
Ferguson, H.L.4
Kelly, C.5
Fritzsch, B.6
Morton, C.C.7
-
29
-
-
62149112931
-
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
-
Hogart, A., Leung, K.N., Wang, N.J., Wu, D.J., Driscoll, J., Vallero, R.O., Schanen, N.C., and LaSalle, J.M. (2009) Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number J.Med.Genet. 46, 86-93
-
(2009)
J.Med.Genet.
, vol.46
, pp. 86-93
-
-
Hogart, A.1
Leung, K.N.2
Wang, N.J.3
Wu, D.J.4
Driscoll, J.5
Vallero, R.O.6
Schanen, N.C.7
Lasalle, J.M.8
-
30
-
-
62749205777
-
Genetic compensation in a human genomic disorder
-
Carelle-Calmels, N., Saugier-Veber, P., Girard-Lemaire, F., Rudolf, G., Doray, B., Guerin, E., Kuhn, P., Arrive, M., Gilch, C., Schmitt, E., Fehrenbach, S., Schnebelen, A., Frebourg, T., and Flori, E. (2009) Genetic compensation in a human genomic disorder N.Engl.J.Med. 360, 1211-1216
-
(2009)
N.Engl.J.Med.
, vol.360
, pp. 1211-1216
-
-
Carelle-Calmels, N.1
Saugier-Veber, P.2
Girard-Lemaire, F.3
Rudolf, G.4
Doray, B.5
Guerin, E.6
Kuhn, P.7
Arrive, M.8
Gilch, C.9
Schmitt, E.10
Fehrenbach, S.11
Schnebelen, A.12
Frebourg, T.13
Flori, E.14
-
31
-
-
70349985243
-
Copy number variation influences gene expression and metabolic traits in mice Hum
-
Orozco, L.D., Cokus, S.J., Ghazalpour, A., Ingram-Drake, L., Wang, S., van Nas, A., Che, N., Araujo, J.A., Pellegrini, M., and Lusis, A.J. (2009) Copy number variation influences gene expression and metabolic traits in mice Hum. Mol.Genet. 18, 4118-4129
-
(2009)
Mol. Genet.
, vol.18
, pp. 4118-4129
-
-
Orozco, L.D.1
Cokus, S.J.2
Ghazalpour, A.3
Ingram-Drake, L.4
Wang, S.5
Van Nas, A.6
Che, N.7
Araujo, J.A.8
Pellegrini, M.9
Lusis, A.J.10
-
32
-
-
0029973080
-
Active RNA polymerases are localized within discrete transcription 'factories' in human nuclei
-
Iborra, F.J., Pombo, A., Jackson, D.A., and Cook, P.R. (1996) Active RNA polymerases are localized within discrete transcription "factories" in human nuclei J.Cell Sci. 109 ( Pt 6), 1427-1436 (Pubitemid 26190492)
-
(1996)
Journal of Cell Science
, vol.109
, Issue.6
, pp. 1427-1436
-
-
Iborra, F.J.1
Pombo, A.2
Jackson, D.A.3
Cook, P.R.4
-
33
-
-
5444243359
-
Active genes dynamically colocalize to shared sites of ongoing transcription
-
DOI 10.1038/ng1423
-
Osborne, C.S., Chakalova, L., Brown, K.E., Carter, D., Horton, A., Debrand, E., Goyenechea, B., Mitchell, J.A., Lopes, S., Reik, W., and Fraser, P. (2004) Active genes dynamically colocalize to shared sites of ongoing transcription Nat.Genet. 36, 1065-1071 (Pubitemid 41184467)
-
(2004)
Nature Genetics
, vol.36
, Issue.10
, pp. 1065-1071
-
-
Osborne, C.S.1
Chakalova, L.2
Brown, K.E.3
Carter, D.4
Horton, A.5
Debrand, E.6
Goyenechea, B.7
Mitchell, J.A.8
Lopes, S.9
Reik, W.10
Fraser, P.11
-
34
-
-
35648930913
-
The role of transcription factories in large-scale structure and dynamics of interphase chromatin
-
DOI 10.1016/j.semcdb.2007.08.008, PII S1084952107001231, Membrane Lipid Microdomains: Roles in Signalling and Disease and 3D Chromatin
-
Sexton, T., Umlauf, D., Kurukuti, S., and Fraser, P. (2007) The role of transcription factories in large-scale structure and dynamics of interphase chromatin Semin.Cell Dev.Biol. 18, 691-697 (Pubitemid 350026432)
-
(2007)
Seminars in Cell and Developmental Biology
, vol.18
, Issue.5
, pp. 691-697
-
-
Sexton, T.1
Umlauf, D.2
Kurukuti, S.3
Fraser, P.4
-
35
-
-
33746514973
-
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
-
DOI 10.1086/506371
-
Merla, G., Howald, C., Henrichsen, C.N., Lyle, R., Wyss, C., Zabot, M.T., Antonarakis, S.E., and Reymond, A. (2006) Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous fl anking genes Am.J.Hum.Genet. 79, 332-341 (Pubitemid 44141831)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.2
, pp. 332-341
-
-
Merla, G.1
Howald, C.2
Henrichsen, C.N.3
Lyle, R.4
Wyss, C.5
Zabot, M.-T.6
Antonarakis, S.E.7
Reymond, A.8
-
36
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger, B.E., Forrest, M.S., Dunning, M., Ingle, C.E., Beazley, C., Thorne, N., Redon, R., Bird, C.P., de Grassi, A., Lee, C., Tyler-Smith, C., Carter, N., Scherer, S.W., Tavare, S., Deloukas, P., Hurles, M.E., and Dermitzakis, E.T. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes Science 315, 848-853
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
Thorne, N.6
Redon, R.7
Bird, C.P.8
De Grassi, A.9
Lee, C.10
Tyler-Smith, C.11
Carter, N.12
Scherer, S.W.13
Tavare, S.14
Deloukas, P.15
Hurles, M.E.16
Dermitzakis, E.T.17
-
37
-
-
48249149836
-
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
-
Molina, J., Carmona-Mora, P., Chrast, J., Krall, P.M., Canales, C.P., Lupski, J.R., Reymond, A., and Walz, K. (2008) Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome Hum.Mol. Genet. 17, 2486-2495
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2486-2495
-
-
Molina, J.1
Carmona-Mora, P.2
Chrast, J.3
Krall, P.M.4
Canales, C.P.5
Lupski, J.R.6
Reymond, A.7
Walz, K.8
-
38
-
-
0037047439
-
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
Gabellini, D., Green, M.R., and Tupler, R. (2002) Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle Cell 110, 339-348
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
39
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
DOI 10.1038/nature04422, PII N04422
-
Gabellini, D., DAntona, G., Moggio, M., Prelle, A., Zecca, C., Adami, R., Angeletti, B., Ciscato, P., Pellegrino, M.A., Bottinelli, R., Green, M.R., and Tupler, R. (2006) Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 Nature 439, 973-977 (Pubitemid 43292415)
-
(2006)
Nature
, vol.439
, Issue.7079
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
Prelle, A.4
Zecca, C.5
Adami, R.6
Angeletti, B.7
Ciscato, P.8
Pellegrino, M.A.9
Bottinelli, R.10
Green, M.R.11
Tupler, R.12
-
40
-
-
28744446805
-
Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms
-
Muncke, N., Wogatzky, B.S., Breuning, M., Sistermans, E.A., Endris, V., Ross, M., Vetrie, D., Catsman-Berrevoets, C.E., and Rappold, G. (2004) Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms J.Med.Genet 41, e121
-
(2004)
J. Med. Genet
, vol.41
-
-
Muncke, N.1
Wogatzky, B.S.2
Breuning, M.3
Sistermans, E.A.4
Endris, V.5
Ross, M.6
Vetrie, D.7
Catsman-Berrevoets, C.E.8
Rappold, G.9
-
41
-
-
33749043929
-
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
-
DOI 10.1016/j.neuron.2006.09.027, PII S0896627306007343
-
Lee, J.A. and Lupski, J.R. (2006) Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders Neuron 52, 103-121 (Pubitemid 44466365)
-
(2006)
Neuron
, vol.52
, Issue.1
, pp. 103-121
-
-
Lee, J.A.1
Lupski, J.R.2
-
42
-
-
34249307315
-
Nuclear organization of the genome and the potential for gene regulation
-
DOI 10.1038/nature05916, PII NATURE05916
-
Fraser, P. and Bickmore, W. (2007) Nuclear organization of the genome and the potential for gene regulation Nature 447, 413-417 (Pubitemid 46816747)
-
(2007)
Nature
, vol.447
, Issue.7143
, pp. 413-417
-
-
Fraser, P.1
Bickmore, W.2
-
43
-
-
34250159068
-
The ins and outs of gene regulation and chromosome territory organisation
-
DOI 10.1016/j.ceb.2007.04.016, PII S0955067407000695, Nucleus and Gene Expression
-
Heard, E. and Bickmore, W. (2007) The ins and outs of gene regulation and chromosome territory organisation Curr.Opin.Cell Biol. 19, 311-316 (Pubitemid 46899518)
-
(2007)
Current Opinion in Cell Biology
, vol.19
, Issue.3
, pp. 311-316
-
-
Heard, E.1
Bickmore, W.2
-
44
-
-
34250369629
-
Prominent use of distal 5 transcription start sites and discovery of a large number of additional exons in ENCODE regions
-
DOI 10.1101/gr.5660607
-
Denoeud, F., Kapranov, P., Ucla, C., Frankish, A., Castelo, R., Drenkow, J., Lagarde, J., Alioto, T., Manzano, C., Chrast, J., Dike, S., Wyss, C., Henrichsen, C.N., Holroyd, N., Dickson, M.C., Taylor, R., Hance, Z., Foissac, S., Myers, R.M., Rogers, J., Hubbard, T., Harrow, J., Guigo, R., Gingeras, T.R., Antonarakis, S.E., and Reymond, A. (2007) Prominent use of distal 5transcription start sites and discovery of a large number of additional exons in ENCODE regions Genome Res. 17, 746-759 (Pubitemid 46919711)
-
(2007)
Genome Research
, vol.17
, Issue.6
, pp. 746-759
-
-
Denoeud, F.1
Kapranov, P.2
Ucla, C.3
Frankish, A.4
Castelo, R.5
Drenkow, J.6
Lagarde, J.7
Alioto, T.8
Manzano, C.9
Chrast, J.10
Dike, S.11
Wyss, C.12
Henrichsen, C.N.13
Holroyd, N.14
Dickson, M.C.15
Taylor, R.16
Hance, Z.17
Foissac, S.18
Myers, R.M.19
Rogers, J.20
Hubbard, T.21
Harrow, J.22
Guigo, R.23
Gingeras, T.R.24
Antonarakis, S.E.25
Reymond, A.26
more..
-
45
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
DOI 10.1038/nature05874, PII NATURE05874
-
Birney, E., Stamatoyannopoulos, J.A., Dutta, A., Guigo, R., Gingeras, T.R., Margulies, E.H., Weng, Z., Snyder, M., Dermitzakis, E.T., Thurman, R.E., Kuehn, M.S., Taylor, C.M., Neph, S., Koch, C.M., Asthana, S., Malhotra, A., Adzhubei, I., Greenbaum, J.A., Andrews, R.M., Flicek, P., Boyle, P.J., Cao, H., Carter, N.P., Clelland, G.K., Davis, S., Day, N., Dhami, P., Dillon, S.C., Dorschner, M.O., Fiegler, H., Giresi, P.G., Goldy, J., Hawrylycz, M., Haydock, A., Humbert, R., James, K.D., Johnson, B.E., Johnson, E.M., Frum, T.T., Rosenzweig, E.R., Karnani, N., Lee, K., Lefebvre, G.C., Navas, P.A., Neri, F., Parker, S.C., Sabo, P.J., Sandstrom, R., Shafer, A., Vetrie, D., Weaver, M., Wilcox, S., Yu, M., Collins, F.S., Dekker, J., Lieb, J.D., Tullius, T.D., Crawford, G.E., Sunyaev, S., Noble, W.S., Dunham, I., Denoeud, F., Reymond, A., Kapranov, P., Rozowsky, J., Zheng, D., Castelo, R., Frankish, A., Harrow, J., Ghosh, S., Sandelin, A., Hofacker, I.L., Baertsch, R., Keefe, D., Dike, S., Cheng, J., Hirsch, H.A., Sekinger, E.A., Lagarde, J., Abril, J.F., Shahab, A., Flamm, C., Fried, C., Hackermuller, J., Hertel, J., Lindemeyer, M., Missal, K., Tanzer, A., Washietl, S., Korbel, J., Emanuelsson, O., Pedersen, J.S., Holroyd, N., Taylor, R., Swarbreck, D., Matthews, N., Dickson, M.C., Thomas, D.J., Weirauch, M.T., Gilbert, J., Drenkow, J., Bell, I., Zhao, X., Srinivasan, K.G., Sung, W.K., Ooi, H.S., Chiu, K.P., Foissac, S., Alioto, T., Brent, M., Pachter, L., Tress, M.L., Valencia, A., Choo, S.W., Choo, C.Y., Ucla, C., Manzano, C., Wyss, C., Cheung, E., Clark, T.G., Brown, J.B., Ganesh, M., Patel, S., Tammana, H., Chrast, J., Henrichsen, C.N., Kai, C., Kawai, J., Nagalakshmi, U., Wu, J., Lian, Z., Lian, J., Newburger, P., Zhang, X., Bickel, P., Mattick, J.S., Carninci, P., Hayashizaki, Y., Weissman, S., Hubbard, T., Myers, R.M., Rogers, J., Stadler, P.F., Lowe, T.M., Wei, C.L., Ruan, Y., Struhl, K., Gerstein, M., Antonarakis, S.E., Fu, Y., Green, E.D., Karaoz, U., Siepel, A., Taylor, J., Liefer, L.A., Wetterstrand, K.A., Good, P.J., Feingold, E.A., Guyer, M.S., Cooper, G.M., Asimenos, G., Dewey, C.N., Hou, M., Nikolaev, S., Montoya-Burgos, J.I., Loytynoja, A., Whelan, S., Pardi, F., Massingham, T., Huang, H., Zhang, N.R., Holmes, I., Mullikin, J.C., Ureta-Vidal, A., Paten, B., Seringhaus, M., Church, D., Rosenbloom, K., Kent, W.J., Stone, E.A., Batzoglou, S., Goldman, N., Hardison, R.C., Haussler, D., Miller, W., Sidow, A., Trinklein, N.D., Zhang, Z.D., Barrera, L., Stuart, R., King, D.C., Ameur, A., Enroth, S., Bieda, M.C., Kim, J., Bhinge, A.A., Jiang, N., Liu, J., Yao, F., Vega, V.B., Lee, C.W., Ng, P., Shahab, A., Yang, A., Moqtaderi, Z., Zhu, Z., Xu, X., Squazzo, S., Oberley, M.J., Inman, D., Singer, M.A., Richmond, T.A., Munn, K.J., Rada-Iglesias, A., Wallerman, O., Komorowski, J., Fowler, J.C., Couttet, P., Bruce, A.W., Dovey, O.M., Ellis, P.D., Langford, C.F., Nix, D.A., Euskirchen, G., Hartman, S., Urban, A.E., Kraus, P., Van Calcar, S., Heintzman, N., Kim, T.H., Wang, K., Qu, C., Hon, G., Luna, R., Glass, C.K., Rosenfeld, M.G., Aldred, S.F., Cooper, S.J., Halees, A., Lin, J.M., Shulha, H.P., Zhang, X., Xu, M., Haidar, J.N., Yu, Y., Ruan, Y., Iyer, V.R., Green, R.D., Wadelius, C., Farnham, P.J., Ren, B., Harte, R.A., Hinrichs, A.S., Trumbower, H., and Clawson, H. (2007) Identifi cation and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Nature 447, 799-816 (Pubitemid 46920138)
-
(2007)
Nature
, vol.447
, Issue.7146
, pp. 799-816
-
-
Birney, E.1
Stamatoyannopoulos, J.A.2
Dutta, A.3
Guigo, R.4
Gingeras, T.R.5
Margulies, E.H.6
Weng, Z.7
Snyder, M.8
Dermitzakis, E.T.9
Thurman, R.E.10
Kuehn, M.S.11
Taylor, C.M.12
Neph, S.13
Koch, C.M.14
Asthana, S.15
Malhotra, A.16
Adzhubei, I.17
Greenbaum, J.A.18
Andrews, R.M.19
Flicek, P.20
Boyle, P.J.21
Cao, H.22
Carter, N.P.23
Clelland, G.K.24
Davis, S.25
Day, N.26
Dhami, P.27
Dillon, S.C.28
Dorschner, M.O.29
Fiegler, H.30
Giresi, P.G.31
Goldy, J.32
Hawrylycz, M.33
Haydock, A.34
Humbert, R.35
James, K.D.36
Johnson, B.E.37
Johnson, E.M.38
Frum, T.T.39
Rosenzweig, E.R.40
Karnani, N.41
Lee, K.42
Lefebvre, G.C.43
Navas, P.A.44
Neri, F.45
Parker, S.C.J.46
Sabo, P.J.47
Sandstrom, R.48
Shafer, A.49
Vetrie, D.50
Weaver, M.51
Wilcox, S.52
Yu, M.53
Collins, F.S.54
Dekker, J.55
Lieb, J.D.56
Tullius, T.D.57
Crawford, G.E.58
Sunyaev, S.59
Noble, W.S.60
Dunham, I.61
Denoeud, F.62
more..
-
46
-
-
35648970050
-
Side effects of genome structural changes
-
DOI 10.1016/j.gde.2007.08.009, PII S0959437X07001608, Differentiation and Gene Regulation
-
Reymond, A., Henrichsen, C.N., Harewood, L., and Merla, G. (2007) Side effects of genome structural changes Curr.Opin.Genet.Dev. 17, 381-386 (Pubitemid 350019564)
-
(2007)
Current Opinion in Genetics and Development
, vol.17
, Issue.5
, pp. 381-386
-
-
Reymond, A.1
Henrichsen, C.N.2
Harewood, L.3
Merla, G.4
-
47
-
-
63449086972
-
The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells
-
Cahan, P., Li, Y., Izumi, M., and Graubert, T.A. (2009) The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells Nat.Genet. 41, 430-437
-
(2009)
Nat. Genet.
, vol.41
, pp. 430-437
-
-
Cahan, P.1
Li, Y.2
Izumi, M.3
Graubert, T.A.4
-
48
-
-
0018600186
-
Muscular dystrophy in an X;1 translocation female suggests that Duchenne locus is on X chromosome short arm
-
Lindenbaum, R.H., Clarke, G., Patel, C., Moncrieff, M., and Hughes, J.T. (1979) Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm J.Med.Genet 16, 389-392 (Pubitemid 10196285)
-
(1979)
Journal of Medical Genetics
, vol.16
, Issue.5
, pp. 389-392
-
-
Lindenbaum, R.H.1
Clarke, G.2
Patel, C.3
-
49
-
-
0021277940
-
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome
-
Verellen-Dumoulin, C., Freund, M., De Meyer, R., Laterre, C., Frederic, J., Thompson, M.W., Markovic, V.D., and Worton, R.G. (1984) Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome Hum.Genet 67, 115-119 (Pubitemid 14124083)
-
(1984)
Human Genetics
, vol.67
, Issue.1
, pp. 115-119
-
-
Verellen-Dumoulin, Ch.1
Freund, M.2
De Meyer, R.3
-
50
-
-
0022347518
-
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
-
DOI 10.1038/318672a0
-
Ray, P.N., Belfall, B., Duff, C., Logan, C., Kean, V., Thompson, M.W., Sylvester, J.E., Gorski, J.L., Schmickel, R.D., and Worton, R.G. (1985) Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy Nature 318, 672-675 (Pubitemid 16172419)
-
(1985)
Nature
, vol.318
, Issue.6047
, pp. 672-675
-
-
Ray, P.N.1
Belfall, B.2
Duff, C.3
-
51
-
-
0025250713
-
Cloning of the breakpoints of a deletion associated with choroidermia
-
Cremers, F.P., Brunsmann, F., Berger, W., van Kerkhoff, E.P., van de Pol, T.J., Wieringa, B., Pawlowitzki, I.H., and Ropers, H.H. (1990) Cloning of the breakpoints of a deletion associated with choroidermia Hum.Genet 86, 61-64
-
(1990)
Hum. Genet
, vol.86
, pp. 61-64
-
-
Cremers, F.P.1
Brunsmann, F.2
Berger, W.3
Van Kerkhoff, E.P.4
Van De Pol, T.J.5
Wieringa, B.6
Pawlowitzki, I.H.7
Ropers, H.H.8
-
52
-
-
0026742127
-
The Lowes oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
-
Attree, O., Olivos, I.M., Okabe, I., Bailey, L.C., Nelson, D.L., Lewis, R.A., McInnes, R.R., and Nussbaum, R.L. (1992) The Lowes oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase Nature 358, 239-242
-
(1992)
Nature
, vol.358
, pp. 239-242
-
-
Attree, O.1
Olivos, I.M.2
Okabe, I.3
Bailey, L.C.4
Nelson, D.L.5
Lewis, R.A.6
McInnes, R.R.7
Nussbaum, R.L.8
-
53
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
DOI 10.1016/S0092-8674(00)80899-5
-
Gleeson, J.G., Allen, K.M., Fox, J.W., Lamperti, E.D., Berkovic, S., Scheffer, I., Cooper, E.C., Dobyns, W.B., Minnerath, S.R., Ross, M.E., and Walsh, C.A. (1998) Doublecortin, a brainspecific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein Cell 92, 63-72 (Pubitemid 28053298)
-
(1998)
Cell
, vol.92
, Issue.1
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
Lamperti, E.D.4
Berkovic, S.5
Scheffer, I.6
Cooper, E.C.7
Dobyns, W.B.8
Minnerath, S.R.9
Ross, M.E.10
Walsh, C.A.11
-
54
-
-
0036578890
-
Mutations in ALMS1 cause obesity type 2 diabetes and neurosensory degeneration in Alstrom syndrome
-
Collin, G.B., Marshall, J.D., Ikeda, A., So, W.V., Russell-Eggitt, I., Maffei, P., Beck, S., Boerkoel, C.F., Sicolo, N., Martin, M., Nishina, P.M., and Naggert, J.K. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome Nat.Genet 31, 74-78
-
(2002)
Nat. Genet
, vol.31
, pp. 74-78
-
-
Collin, G.B.1
Marshall, J.D.2
Ikeda, A.3
So, W.V.4
Russell-Eggitt, I.5
Maffei, P.6
Beck, S.7
Boerkoel, C.F.8
Sicolo, N.9
Martin, M.10
Nishina, P.M.11
Naggert, J.K.12
-
55
-
-
18544391142
-
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome
-
Hearn, T., Renforth, G.L., Spalluto, C., Hanley, N.A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J.F., Russell-Eggitt, I., Bonneau, D., Walker, M., and Wilson, D.I. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome Nat.Genet 31, 79-83
-
(2002)
Nat. Genet
, vol.31
, pp. 79-83
-
-
Hearn, T.1
Renforth, G.L.2
Spalluto, C.3
Hanley, N.A.4
Piper, K.5
Brickwood, S.6
White, C.7
Connolly, V.8
Taylor, J.F.9
Russell-Eggitt, I.10
Bonneau, D.11
Walker, M.12
Wilson, D.I.13
-
56
-
-
0031663782
-
Position effect in human genetic disease
-
DOI 10.1093/hmg/7.10.1611
-
Kleinjan, D.J. and van Heyningen, V. (1998) Position effect in human genetic disease Hum. Mol.Genet 7, 1611-1618 (Pubitemid 28464038)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.10
, pp. 1611-1618
-
-
Kleinjan, D.-J.1
Van Heyningen, V.2
-
57
-
-
70349611559
-
Cis-ruption mechanisms: Disruption of cis-regulatory control as a cause of human genetic disease
-
Kleinjan, D.J. and Coutinho, P. (2009) Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease Brief.Funct.Genomic.Proteomic. 8, 317-332
-
(2009)
Brief. Funct. Genomic. Proteomic.
, vol.8
, pp. 317-332
-
-
Kleinjan, D.J.1
Coutinho, P.2
-
58
-
-
0034610337
-
3deletions cause aniridia by preventing PAX6 gene expression
-
Lauderdale, J.D., Wilensky, J.S., Oliver, E.R., Walton, D.S., and Glaser, T. (2000) 3deletions cause aniridia by preventing PAX6 gene expression Proc.Natl.Acad.Sci. USA 97, 13755-13759
-
(2000)
Proc. Natl. Acad. Sci USA
, vol.97
, pp. 13755-13759
-
-
Lauderdale, J.D.1
Wilensky, J.S.2
Oliver, E.R.3
Walton, D.S.4
Glaser, T.5
-
59
-
-
61349104285
-
Highly conserved noncoding elements on either side of SOX9 associated with Pierre Robin sequence
-
Benko, S., Fantes, J.A., Amiel, J., Kleinjan, D.J., Thomas, S., Ramsay, J., Jamshidi, N., Essafi, A., Heaney, S., Gordon, C.T., McBride, D., Golzio, C., Fisher, M., Perry, P., Abadie, V., Ayuso, C., Holder-Espinasse, M., Kilpatrick, N., Lees, M.M., Picard, A., Temple, I.K., Thomas, P., Vazquez, M.P., Vekemans, M., Crollius, H.R., Hastie, N.D., Munnich, A., Etchevers, H.C., Pelet, A., Farlie, P.G., FitzPatrick, D.R., and Lyonnet, S. (2009) Highly conserved noncoding elements on either side of SOX9 associated with Pierre Robin sequence Nat.Genet. 41, 359-364
-
(2009)
Nat. Genet.
, vol.41
, pp. 359-364
-
-
Benko, S.1
Fantes, J.A.2
Amiel, J.3
Kleinjan, D.J.4
Thomas, S.5
Ramsay, J.6
Jamshidi, N.7
Essafi, A.8
Heaney, S.9
Gordon, C.T.10
McBride, D.11
Golzio, C.12
Fisher, M.13
Perry, P.14
Abadie, V.15
Ayuso, C.16
Holder-Espinasse, M.17
Kilpatrick, N.18
Lees, M.M.19
Picard, A.20
Temple, I.K.21
Thomas, P.22
Vazquez, M.P.23
Vekemans, M.24
Crollius, H.R.25
Hastie, N.D.26
Munnich, A.27
Etchevers, H.C.28
Pelet, A.29
Farlie, P.G.30
Fitzpatrick, D.R.31
Lyonnet, S.32
more..
-
60
-
-
70349705754
-
Longrange regulation at the SOX9 locus in development and disease
-
Gordon, C.T., Tan, T.Y., Benko, S., FitzPatrick, D., Lyonnet, S., and Farlie, P.G. (2009) Longrange regulation at the SOX9 locus in development and disease J.Med.Genet. 46, 649-656
-
(2009)
J. Med. Genet.
, vol.46
, pp. 649-656
-
-
Gordon, C.T.1
Tan, T.Y.2
Benko, S.3
Fitzpatrick, D.4
Lyonnet, S.5
Farlie, P.G.6
-
61
-
-
33845528754
-
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
-
DOI 10.1111/j.1399-0004.2007.00736.x
-
Leipoldt, M., Erdel, M., Bien-Willner, G.A., Smyk, M., Theurl, M., Yatsenko, S.A., Lupski, J.R., Lane, A.H., Shanske, A.L., Stankiewicz, P., and Scherer, G. (2007) Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia Clin. Genet. 71, 67-75 (Pubitemid 44921623)
-
(2007)
Clinical Genetics
, vol.71
, Issue.1
, pp. 67-75
-
-
Leipoldt, M.1
Erdel, M.2
Bien-Willner, G.A.3
Smyk, M.4
Theurl, M.5
Yatsenko, S.A.6
Lupski, J.R.7
Lane, A.H.8
Shanske, A.L.9
Stankiewicz, P.10
Scherer, G.11
-
62
-
-
15944402131
-
Position effects due to chromosome breakpoints that map 900 Kb upstream and 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
-
DOI 10.1086/429252
-
Velagaleti, G.V., Bien-Willner, G.A., Northup, J.K., Lockhart, L.H., Hawkins, J.C., Jalal, S.M., Withers, M., Lupski, J.R., and Stankiewicz, P. (2005) Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia Am.J.Hum.Genet 76, 652-662 (Pubitemid 40432172)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.4
, pp. 652-662
-
-
Velagaleti, G.V.N.1
Bien-Willner, G.A.2
Northup, J.K.3
Lockhart, L.H.4
Hawkins, J.C.5
Jalal, S.M.6
Withers, M.7
Lupski, J.R.8
Stankiewicz, P.9
-
63
-
-
35448994905
-
Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene
-
DOI 10.1093/hmg/ddm145
-
Demura, M., Martin, R.M., Shozu, M., Sebastian, S., Takayama, K., Hsu, W.T., Schultz, R.A., Neely, K., Bryant, M., Mendonca, B.B., Hanaki, K., Kanzaki, S., Rhoads, D.B., Misra, M., and Bulun, S.E. (2007) Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene Hum.Mol.Genet. 16, 2529-2541 (Pubitemid 47617720)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.21
, pp. 2529-2541
-
-
Demura, M.1
Martin, R.M.2
Shozu, M.3
Sebastian, S.4
Takayama, K.5
Hsu, W.-T.6
Schultz, R.A.7
Neely, K.8
Bryant, M.9
Mendonca, B.B.10
Hanaki, K.11
Kanzaki, S.12
Rhoads, D.B.13
Misra, M.14
Bulun, S.E.15
-
64
-
-
0038415865
-
Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene
-
DOI 10.1056/NEJMoa021559
-
Shozu, M., Sebastian, S., Takayama, K., Hsu, W.T., Schultz, R.A., Neely, K., Bryant, M., and Bulun, S.E. (2003) Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene N.Engl.J.Med. 348, 1855-1865 (Pubitemid 36532311)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.19
, pp. 1855-1865
-
-
Shozu, M.1
Sebastian, S.2
Takayama, K.3
Hsu, W.-T.4
Schultz, R.A.5
Neely, K.6
Bryant, M.7
Bulun, S.E.8
-
65
-
-
70349873824
-
Comprehensive mapping of long-range interactions reveals folding principles of the human genome
-
Lieberman-Aiden, E., van Berkum, N.L., Williams, L., Imakaev, M., Ragoczy, T., Telling, A., Amit, I., Lajoie, B.R., Sabo, P.J., Dorschner, M.O., Sandstrom, R., Bernstein, B., Bender, M.A., Groudine, M., Gnirke, A., Stamatoyannopoulos, J., Mirny, L.A., Lander, E.S., and Dekker, J. (2009) Comprehensive mapping of long-range interactions reveals folding principles of the human genome Science 326, 289-293
-
(2009)
Science
, vol.326
, pp. 289-293
-
-
Lieberman-Aiden, E.1
Van Berkum, N.L.2
Williams, L.3
Imakaev, M.4
Ragoczy, T.5
Telling, A.6
Amit, I.7
Lajoie, B.R.8
Sabo, P.J.9
Dorschner, M.O.10
Sandstrom, R.11
Bernstein, B.12
Bender, M.A.13
Groudine, M.14
Gnirke, A.15
Stamatoyannopoulos, J.16
Mirny, L.A.17
Lander, E.S.18
Dekker, J.19
-
66
-
-
38149133051
-
Transcription factories are nuclear subcompartments that remain in the absence of transcription
-
Mitchell, J.A. and Fraser, P. (2008) Transcription factories are nuclear subcompartments that remain in the absence of transcription Genes Dev. 22, 20-25
-
(2008)
Genes Dev.
, vol.22
, pp. 20-25
-
-
Mitchell, J.A.1
Fraser, P.2
-
67
-
-
33750212321
-
Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C)
-
DOI 10.1038/ng1896, PII NG1896
-
Simonis, M., Klous, P., Splinter, E., Moshkin, Y., Willemsen, R., de Wit, E., van Steensel, B., and de Laat, W. (2006) Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4 C) Nat.Genet. 38, 1348-1354 (Pubitemid 44646300)
-
(2006)
Nature Genetics
, vol.38
, Issue.11
, pp. 1348-1354
-
-
Simonis, M.1
Klous, P.2
Splinter, E.3
Moshkin, Y.4
Willemsen, R.5
De Wit, E.6
Van Steensel, B.7
De Laat, W.8
-
68
-
-
0033553877
-
Differences in the localization and morphology of chromosomes in the human nucleus
-
DOI 10.1083/jcb.145.6.1119
-
Croft, J.A., Bridger, J.M., Boyle, S., Perry, P., Teague, P., and Bickmore, W.A. (1999) Differences in the localization and morphology of chromosomes in the human nucleus J.Cell Biol. 145, 1119-1131 (Pubitemid 29293625)
-
(1999)
Journal of Cell Biology
, vol.145
, Issue.6
, pp. 1119-1131
-
-
Croft, J.A.1
Bridger, J.M.2
Boyle, S.3
Perry, P.4
Teague, P.5
Bickmore, W.A.6
-
69
-
-
0035253606
-
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells
-
Boyle, S., Gilchrist, S., Bridger, J.M., Mahy, N.L., Ellis, J.A., and Bickmore, W.A. (2001) The spatial organization of human chromosomes within the nuclei of normal and emerinmutant cells Hum.Mol.Genet 10, 211-219 (Pubitemid 32123979)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.3
, pp. 211-219
-
-
Boyle, S.1
Gilchrist, S.2
Bridger, J.M.3
Mahy, N.L.4
Ellis, J.A.5
Bickmore, W.A.6
-
70
-
-
0037313070
-
Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells
-
Taslerova, R., Kozubek, S., Lukasova, E., Jirsova, P., Bartova, E., and Kozubek, M. (2003) Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells Hum.Genet. 112, 143-155 (Pubitemid 36869097)
-
(2003)
Human Genetics
, vol.112
, Issue.2
, pp. 143-155
-
-
Taslerova, R.1
Kozubek, S.2
Lukasova, E.3
Jirsova, P.4
Bartova, E.5
Kozubek, M.6
-
71
-
-
33748765512
-
Localization of genetic elements of intact and derivative chromosome 11 and 22 territories in nuclei of Ewing sarcoma cells
-
DOI 10.1016/j.jsb.2006.05.005, PII S1047847706001705
-
Taslerova, R., Kozubek, S., Bartova, E., Gajduskova, P., Kodet, R., and Kozubek, M. (2006) Localization of genetic elements of intact and derivative chromosome 11 and 22 territories in nuclei of Ewing sarcoma cells J.Struct.Biol. 155, 493-504 (Pubitemid 44416595)
-
(2006)
Journal of Structural Biology
, vol.155
, Issue.3
, pp. 493-504
-
-
Taslerova, R.1
Kozubek, S.2
Bartova, E.3
Gajduskova, P.4
Kodet, R.5
Kozubek, M.6
-
72
-
-
41949121084
-
Recruitment to the nuclear periphery can alter expression of genes in human cells
-
Finlan, L.E., Sproul, D., Thomson, I., Boyle, S., Kerr, E., Perry, P., Ylstra, B., Chubb, J.R., and Bickmore, W.A. (2008) Recruitment to the nuclear periphery can alter expression of genes in human cells PLoS.Genet. 4, e1000039
-
(2008)
PLoS. Genet.
, vol.4
-
-
Finlan, L.E.1
Sproul, D.2
Thomson, I.3
Boyle, S.4
Kerr, E.5
Perry, P.6
Ylstra, B.7
Chubb, J.R.8
Bickmore, W.A.9
-
73
-
-
0033223761
-
Structural chromosomal anomaly in mental retardation Indian
-
Reddy, K.S., Rajangam, S., and Thomas, I.M. (1999) Structural chromosomal anomaly in mental retardation Indian J.Pediatr. 66, 937-940
-
(1999)
J. Pediatr.
, vol.66
, pp. 937-940
-
-
Reddy, K.S.1
Rajangam, S.2
Thomas, I.M.3
-
74
-
-
65349142073
-
Transcription and the nuclear periphery: Edge of darkness?
-
Deniaud, E. and Bickmore, W.A. (2009) Transcription and the nuclear periphery: edge of darkness? Curr.Opin.Genet.Dev. 19, 187-191
-
(2009)
Curr. Opin. Genet. Dev.
, vol.19
, pp. 187-191
-
-
Deniaud, E.1
Bickmore, W.A.2
-
75
-
-
31644436473
-
Neural induction promotes large-scale chromatin reorganisation of the Mash1 locus
-
DOI 10.1242/jcs.02727
-
Williams, R.R., Azuara, V., Perry, P., Sauer, S., Dvorkina, M., Jorgensen, H., Roix, J., McQueen, P., Misteli, T., Merkenschlager, M., and Fisher, A.G. (2006) Neural induction promotes largescale chromatin reorganisation of the Mash1 locus J.Cell Sci. 119, 132-140 (Pubitemid 43169306)
-
(2006)
Journal of Cell Science
, vol.119
, Issue.1
, pp. 132-140
-
-
Williams, R.R.E.1
Azuara, V.2
Perry, P.3
Sauer, S.4
Dvorkina, M.5
Jorgensen, H.6
Roix, J.7
McQueen, P.8
Misteli, T.9
Merkenschlager, M.10
Fisher, A.G.11
-
76
-
-
69249220109
-
The spatial repositioning of adipogenesis genes is correlated with their expression status in a porcine mesenchymal stem cell adipogenesis model system
-
Szczerbal, I., Foster, H.A., and Bridger, J.M. (2009) The spatial repositioning of adipogenesis genes is correlated with their expression status in a porcine mesenchymal stem cell adipogenesis model system Chromosoma 118, 647-663
-
(2009)
Chromosoma
, vol.118
, pp. 647-663
-
-
Szczerbal, I.1
Foster, H.A.2
Bridger, J.M.3
-
77
-
-
77951860836
-
The effect of translocation-induced nuclear reorganization on gene expression
-
Harewood, L., Schutz, F., Boyle, S., Perry, P., Delorenzi, M., Bickmore, W.A., and Reymond, A. (2010) The effect of translocation-induced nuclear reorganization on gene expression Genome Res.
-
(2010)
Genome Res
-
-
Harewood, L.1
Schutz, F.2
Boyle, S.3
Perry, P.4
Delorenzi, M.5
Bickmore, W.A.6
Reymond, A.7
-
78
-
-
52249111620
-
Association between active genes occurs at nuclear speckles and is modulated by chromatin environment
-
Brown, J.M., Green, J., das Neves, R.P., Wallace, H.A., Smith, A.J., Hughes, J., Gray, N., Taylor, S., Wood, W.G., Higgs, D.R., Iborra, F.J., and Buckle, V.J. (2008) Association between active genes occurs at nuclear speckles and is modulated by chromatin environment J.Cell Biol. 182, 1083-1097
-
(2008)
J.Cell Biol.
, vol.182
, pp. 1083-1097
-
-
Brown, J.M.1
Green, J.2
Das Neves, R.P.3
Wallace, H.A.4
Smith, A.J.5
Hughes, J.6
Gray, N.7
Taylor, S.8
Wood, W.G.9
Higgs, D.R.10
Iborra, F.J.11
Buckle, V.J.12
-
79
-
-
5444260778
-
Spatial positioning: A new dimension in genome function
-
DOI 10.1016/j.cell.2004.09.035, PII S0092867404009444
-
Misteli, T. (2004) Spatial positioning; a new dimension in genome function Cell 119, 153-156 (Pubitemid 39360898)
-
(2004)
Cell
, vol.119
, Issue.2
, pp. 153-156
-
-
Misteli, T.1
-
80
-
-
34548210885
-
Myc dynamically and preferentially relocates to a transcription factory occupied by Igh
-
Osborne, C.S., Chakalova, L., Mitchell, J.A., Horton, A., Wood, A.L., Bolland, D.J., Corcoran, A.E., and Fraser, P. (2007) Myc dynamically and preferentially relocates to a transcription factory occupied by Igh PLoS.Biol. 5, e192
-
(2007)
PLoS.Biol.
, vol.5
-
-
Osborne, C.S.1
Chakalova, L.2
Mitchell, J.A.3
Horton, A.4
Wood, A.L.5
Bolland, D.J.6
Corcoran, A.E.7
Fraser, P.8
-
81
-
-
33646729244
-
Intermingling of chromosome territories in interphase suggests role in translocations and transcriptiondependent associations
-
Branco, M.R. and Pombo, A. (2006) Intermingling of chromosome territories in interphase suggests role in translocations and transcriptiondependent associations PLoS.Biol. 4, e138
-
(2006)
PLoS. Biol.
, vol.4
-
-
Branco, M.R.1
Pombo, A.2
-
82
-
-
34250172721
-
The three-dimensional structure of human interphase chromosomes is related to the transcriptome map
-
DOI 10.1128/MCB.00208-07
-
Goetze, S., Mateos-Langerak, J., Gierman, H.J., de Leeuw, W., Giromus, O., Indemans, M.H., Koster, J., Ondrej, V., Versteeg, R., and van Driel, R. (2007) The three-dimensional structure of human interphase chromosomes is related to the transcriptome map Mol.Cell Biol. 27, 4475-4487 (Pubitemid 46906570)
-
(2007)
Molecular and Cellular Biology
, vol.27
, Issue.12
, pp. 4475-4487
-
-
Goetze, S.1
Mateos-Langerak, J.2
Gierman, H.J.3
De Leeuw, W.4
Giromus, O.5
Indemans, M.H.G.6
Koster, J.7
Ondrej, V.8
Versteeg, R.9
Van Driel, R.10
|