-
1
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
10.1146/annurev.genom.9.081307.164217 19715442
-
Copy number variation in human health, disease, and evolution. Zhang F, Gu W, Hurles ME, Lupski JR, Annu Rev Genomics Hum Genet 2009 10 451 481 10.1146/annurev.genom.9.081307.164217 19715442
-
(2009)
Annu Rev Genomics Hum Genet
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
-
2
-
-
62549134411
-
Mechanisms for human genomic rearrangements
-
10.1186/1755-8417-1-4 19014668
-
Mechanisms for human genomic rearrangements. Gu W, Zhang F, Lupski JR, Pathogenetics 2008 1 4 10.1186/1755-8417-1-4 19014668
-
(2008)
Pathogenetics
, vol.1
, pp. 4
-
-
Gu, W.1
Zhang, F.2
Lupski, J.R.3
-
3
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
10.1146/annurev-med-100708-204735 20059347
-
Structural variation in the human genome and its role in disease. Stankiewicz P, Lupski JR, Annu Rev Med 2010 61 437 455 10.1146/annurev-med- 100708-204735 20059347
-
(2010)
Annu Rev Med
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
4
-
-
0035487212
-
Segmental duplications: An 'expanding' role in genomic instability and disease
-
DOI 10.1038/35093500
-
Segmental duplications: an 'expanding' role in genomic instability and disease. Emanuel BS, Shaikh TH, Nat Rev Genet 2001 2 791 800 11584295 (Pubitemid 33685576)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.10
, pp. 791-800
-
-
Emanuel, B.S.1
Shaikh, T.H.2
-
5
-
-
33745373606
-
Primate segmental duplications: Crucibles of evolution, diversity and disease
-
DOI 10.1038/nrg1895, PII N1895
-
Primate segmental duplications: crucibles of evolution, diversity and disease. Bailey JA, Eichler EE, Nat Rev Genet 2006 7 552 564 16770338 (Pubitemid 43943572)
-
(2006)
Nature Reviews Genetics
, vol.7
, Issue.7
, pp. 552-564
-
-
Bailey, J.A.1
Eichler, E.E.2
-
6
-
-
77954402321
-
Inversion variants in the human genome: Role in disease and genome architecture
-
10.1186/gm132 20156332
-
Inversion variants in the human genome: role in disease and genome architecture. Feuk L, Genome Med 2010 2 11 10.1186/gm132 20156332
-
(2010)
Genome Med
, vol.2
, pp. 11
-
-
Feuk, L.1
-
7
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
14764619
-
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Shaw CJ, Lupski JR, Hum Mol Genet 2004 13 Spec No 1 57 64 14764619
-
(2004)
Hum Mol Genet
, vol.13
, Issue.SPEC. NO. 1
, pp. 1857-64
-
-
Shaw, C.J.1
Lupski, J.R.2
-
8
-
-
0033361765
-
Chromosome breakage in the prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
DOI 10.1086/302510
-
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD, Am J Hum Genet 1999 65 370 386 10.1086/302510 10417280 (Pubitemid 30462995)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.2
, pp. 370-386
-
-
Amos-Landgraf, J.M.1
Yonggang, J.2
Gottlieb, W.3
Depinet, T.4
Wandstrat, A.E.5
Cassidy, S.B.6
Driscoll, D.J.7
Rogan, P.K.8
Schwartz, S.9
Nicholls, R.D.10
-
9
-
-
39549087017
-
Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
-
Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Makoff AJ, Flomen RH, Genome Biol 2008 8 114
-
(2008)
Genome Biol
, vol.8
, pp. 18114
-
-
Makoff, A.J.1
Flomen, R.H.2
-
10
-
-
41849099288
-
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome
-
DOI 10.1002/ajmg.a.32249
-
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Butler MG, Fischer W, Kibiryeva N, Bittel DC, Am J Med Genet A 2008 146 854 860 18266248 (Pubitemid 351499789)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.7
, pp. 854-860
-
-
Butler, M.G.1
Fischer, W.2
Kibiryeva, N.3
Bittel, D.C.4
-
12
-
-
0037447443
-
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
-
DOI 10.1093/hmg/ddg101
-
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, et al. Hum Mol Genet 2003 12 849 858 10.1093/hmg/ddg101 12668608 (Pubitemid 36504027)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.8
, pp. 849-858
-
-
Gimelli, G.1
Pujana, M.A.2
Patricelli, M.G.3
Russo, S.4
Giardino, D.5
Larizza, L.6
Cheung, J.7
Armengol, L.8
Schinzel, A.9
Estivill, X.10
Zuffardi, O.11
-
13
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
DOI 10.1038/ng753
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, et al. Nat Genet 2001 29 321 325 10.1038/ng753 11685205 (Pubitemid 33096459)
-
(2001)
Nature Genetics
, vol.29
, Issue.3
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
Chitayat, D.4
Bodurtha, J.5
Mandel, A.6
Costa, T.7
Grebe, T.8
Cox, S.9
Tsui, L.-C.10
Scherer, S.W.11
-
14
-
-
0032169436
-
Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
-
10.1002/(SICI)1096-8628(19980901)79:2<82: AID-AJMG2>3.0.CO;2-P 9741464
-
Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH, Am J Med Genet 1998 79 82 89 10.1002/(SICI)1096-8628(19980901)79:2<82::AID- AJMG2>3.0.CO;2-P 9741464
-
(1998)
Am J Med Genet
, vol.79
, pp. 82-89
-
-
Repetto, G.M.1
White, L.M.2
Bader, P.J.3
Johnson, D.4
Knoll, J.H.5
-
15
-
-
33644861103
-
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
-
DOI 10.1002/ajmg.a.31091
-
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS, Am J Med Genet A 2006 140 434 441 16470730 (Pubitemid 43376315)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.5
, pp. 434-441
-
-
Dennis, N.R.1
Veltman, M.W.M.2
Thompson, R.3
Craig, E.4
Bolton, P.F.5
Thomas, N.S.6
-
16
-
-
0035136724
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH, J Med Genet 2001 38 26 34 10.1136/jmg.38.1.26 11134237 (Pubitemid 32102319)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.1
, pp. 26-34
-
-
Ungaro, P.1
Christian, S.L.2
Fantes, J.A.3
Mutirangura, A.4
Black, S.5
Reynolds, J.6
Malcolm, S.7
Dobyns, W.B.8
Ledbetter, D.H.9
-
17
-
-
46949101344
-
Complex rearrangements of chromosome 15 in two patients with MILD/ATYPICAL Prader Willi syndrome
-
Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome. Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A, Genet Couns 2008 19 219 224 18618997 (Pubitemid 351961209)
-
(2008)
Genetic Counseling
, vol.19
, Issue.2
, pp. 219-224
-
-
Salavoura, K.1
Kolialexi, A.2
Sofocleous, C.3
Kalaitzidaki, M.4
Pampanos, A.5
Kitsiou, S.6
Mavrou, A.7
-
18
-
-
77954049435
-
Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers
-
10.1093/molehr/gaq005 20083560
-
Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers. Molina O, Blanco J, Vidal F, Mol Hum Reprod 2010 16 320 328 10.1093/molehr/gaq005 20083560
-
(2010)
Mol Hum Reprod
, vol.16
, pp. 320-328
-
-
Molina, O.1
Blanco, J.2
Vidal, F.3
-
20
-
-
45549101859
-
Cytogenetic determinants of male fertility
-
DOI 10.1093/humupd/dmn017
-
Cytogenetic determinants of male fertility. Martin RH, Hum Reprod Update 2008 14 379 390 10.1093/humupd/dmn017 18535003 (Pubitemid 351858977)
-
(2008)
Human Reproduction Update
, vol.14
, Issue.4
, pp. 379-390
-
-
Martin, R.H.1
-
21
-
-
34547850413
-
Role of sperm fish studies in the genetic reproductive advice of structural reorganization carriers
-
DOI 10.1093/humrep/dem152
-
Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Anton E, Vidal F, Blanco J, Hum Reprod 2007 22 2088 2092 10.1093/humrep/dem152 17573525 (Pubitemid 47243543)
-
(2007)
Human Reproduction
, vol.22
, Issue.8
, pp. 2088-2092
-
-
Anton, E.1
Vidal, F.2
Blanco, J.3
-
22
-
-
77949918555
-
Role of sperm fluorescent in situ hybridization studies in infertile patients: Indications, study approach, and clinical relevance
-
19254793
-
Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Sarrate Z, Vidal F, Blanco J, Fertil Steril 2009 93 1892 1902 19254793
-
(2009)
Fertil Steril
, vol.93
, pp. 1892-1902
-
-
Sarrate, Z.1
Vidal, F.2
Blanco, J.3
-
23
-
-
0026737923
-
Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model
-
10.1126/science.1388286 1388286
-
Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model. van den Engh G, Sachs R, Trask BJ, Science 1992 257 1410 1412 10.1126/science.1388286 1388286
-
(1992)
Science
, vol.257
, pp. 1410-1412
-
-
Van Den Engh, G.1
Sachs, R.2
Trask, B.J.3
-
24
-
-
77954072167
-
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
-
10.1371/journal.pone.0008269 20011547
-
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X, PLoS One 2009 4 8269 10.1371/journal.pone.0008269 20011547
-
(2009)
PLoS One
, vol.4
, pp. 58269
-
-
Bosch, N.1
Morell, M.2
Ponsa, I.3
Mercader, J.M.4
Armengol, L.5
Estivill, X.6
-
25
-
-
77951563658
-
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome
-
10.1002/ajmg.c.30258 20425783
-
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P, Am J Med Genet C Semin Med Genet 2010 154C 220 228 10.1002/ajmg.c.30258 20425783
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154
, pp. 220-228
-
-
Hobart, H.H.1
Morris, C.A.2
Mervis, C.B.3
Pani, A.M.4
Kistler, D.J.5
Rios, C.M.6
Kimberley, K.W.7
Gregg, R.G.8
Bray-Ward, P.9
-
26
-
-
43049100493
-
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
-
DOI 10.1101/gr.073197.107
-
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugues N, Campuzano V, Perez-Jurado LA, Genome Res 2008 18 683 694 10.1101/gr.073197.107 18292220 (Pubitemid 351645059)
-
(2008)
Genome Research
, vol.18
, Issue.5
, pp. 683-694
-
-
Cusco, I.1
Corominas, R.2
Bayes, M.3
Flores, R.4
Rivera-Brugues, N.5
Campuzano, V.6
Perez-Jurado, L.A.7
-
27
-
-
55549124885
-
Copy number variation at the breakpoint region of isochromosome 17q
-
10.1101/gr.080697.108 18714090
-
Copy number variation at the breakpoint region of isochromosome 17q. Carvalho CM, Lupski JR, Genome Res 2008 18 1724 1732 10.1101/gr.080697.108 18714090
-
(2008)
Genome Res
, vol.18
, pp. 1724-1732
-
-
Carvalho, C.M.1
Lupski, J.R.2
-
28
-
-
80055118121
-
Fluorescence in situ hybridization (FISH) protocol in human sperm
-
Fluorescence in situ hybridization (FISH) protocol in human sperm. Sarrate Z, Anton E, J Vis Exp 2009
-
(2009)
J Vis Exp
-
-
Sarrate, Z.1
Anton, E.2
-
29
-
-
67649834757
-
Characterization of six human disease-associated inversion polymorphisms
-
10.1093/hmg/ddp187 19383631
-
Characterization of six human disease-associated inversion polymorphisms. Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE, Hum Mol Genet 2009 18 2555 2566 10.1093/hmg/ddp187 19383631
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2555-2566
-
-
Antonacci, F.1
Kidd, J.M.2
Marques-Bonet, T.3
Ventura, M.4
Siswara, P.5
Jiang, Z.6
Eichler, E.E.7
-
30
-
-
11144278605
-
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion
-
DOI 10.1086/426950
-
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N, Am J Hum Genet 2005 76 52 67 10.1086/426950 15580547 (Pubitemid 40023765)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.1
, pp. 52-67
-
-
Visser, R.1
Shimokawa, O.2
Harada, N.3
Kinoshita, A.4
Ohta, T.5
Niikawa, N.6
Matsumoto, N.7
-
31
-
-
0038728033
-
Mutational mechanisms of williams-beuren syndrome deletions
-
DOI 10.1086/376565
-
Mutational mechanisms of Williams-Beuren syndrome deletions. Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA, Am J Hum Genet 2003 73 131 151 10.1086/376565 12796854 (Pubitemid 36793786)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.1
, pp. 131-151
-
-
Bayes, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Perez Jurado, L.A.5
-
32
-
-
10744228785
-
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23
-
DOI 10.1016/S0888-7543(03)00108-3
-
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N, Genomics 2003 82 238 244 10.1016/S0888-7543(03)00108-3 12837273 (Pubitemid 36808624)
-
(2003)
Genomics
, vol.82
, Issue.2
, pp. 238-244
-
-
Sugawara, H.1
Harada, N.2
Ida, T.3
Ishida, T.4
Ledbetter, D.H.5
Yoshiura, K.-I.6
Ohta, T.7
Kishino, T.8
Niikawa, N.9
Matsumoto, N.10
-
33
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
DOI 10.1038/ng.93, PII NG93
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, et al. Nat Genet 2008 40 322 328 10.1038/ng.93 18278044 (Pubitemid 351311774)
-
(2008)
Nature Genetics
, vol.40
, Issue.3
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De Gregori, M.9
Ciccone, R.10
Broomer, A.11
Casuga, I.12
Wang, Y.13
Xiao, C.14
Barbacioru, C.15
Gimelli, G.16
Bernardina, B.D.17
Torniero, C.18
Giorda, R.19
Regan, R.20
Murday, V.21
Mansour, S.22
Fichera, M.23
Castiglia, L.24
Failla, P.25
Ventura, M.26
Jiang, Z.27
Cooper, G.M.28
Knight, S.J.L.29
Romano, C.30
Zuffardi, O.31
Chen, C.32
Schwartz, C.E.33
Eichler, E.E.34
more..
-
34
-
-
77955717301
-
Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype
-
10.1159/000315901 20606400
-
Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA, Cytogenet Genome Res 2010 129 275 279 10.1159/000315901 20606400
-
(2010)
Cytogenet Genome Res
, vol.129
, pp. 275-279
-
-
Rao, P.N.1
Li, W.2
Vissers, L.E.3
Veltman, J.A.4
Ophoff, R.A.5
|