-
1
-
-
1042299966
-
Screening of 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
-
Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner V-F: Screening of 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004, 23:111-116.
-
(2004)
Hum Mutat
, vol.23
, pp. 111-116
-
-
Kluwe, L.1
Siebert, R.2
Gesk, S.3
Friedrich, R.E.4
Tinschert, S.5
Kehrer-Sawatzki, H.6
Mautner, V-F.7
-
2
-
-
84891960906
-
NF1 microdeletions and their underlying mutational mechanisms
-
Edited by Upadhyaya M, Cooper DN. Heidelberg, Springer
-
Kehrer-Sawatzki H, Cooper DN: NF1 microdeletions and their underlying mutational mechanisms. In Neurofibromatosis Type 1, Molecular and Cellular Biology. Edited by Upadhyaya M, Cooper DN. Heidelberg: Springer; 2012:187-211.
-
(2012)
Neurofibromatosis Type 1, Molecular and Cellular Biology
, pp. 187-211
-
-
Kehrer-Sawatzki, H.1
Cooper, D.N.2
-
3
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K: NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000, 9:35-46.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
4
-
-
0034892401
-
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
-
Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H: Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 2001, 69:516-527.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 516-527
-
-
Jenne, D.E.1
Tinschert, S.2
Reimann, H.3
Lasinger, W.4
Thiel, G.5
Hameister, H.6
Kehrer-Sawatzki, H.7
-
5
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
López-Correa C, Dorschner M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E: Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 2001, 10:1387-1392.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1387-1392
-
-
López-Correa, C.1
Dorschner, M.2
Brems, H.3
Lazaro, C.4
Clementi, M.5
Upadhyaya, M.6
Dooijes, D.7
Moog, U.8
Kehrer-Sawatzki, H.9
Rutkowski, J.L.10
Fryns, J.P.11
Marynen, P.12
Stephens, K.13
Legius, E.14
-
6
-
-
79551573541
-
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
-
Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H: Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 2011, 32:213-219.
-
(2011)
Hum Mutat
, vol.32
, pp. 213-219
-
-
Messiaen, L.1
Vogt, J.2
Bengesser, K.3
Fu, C.4
Mikhail, F.5
Serra, E.6
Garcia-Linares, C.7
Cooper, D.N.8
Lazaro, C.9
Kehrer-Sawatzki, H.10
-
7
-
-
77952679995
-
NF1 microdeletions in neurofibromatosis type 1, from genotype to phenotype
-
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D, members of the NF France Network: NF1 microdeletions in neurofibromatosis type 1, from genotype to phenotype. Hum Mutat 2010, 31:E1506-E1518.
-
(2010)
Hum Mutat
, vol.31
, pp. E1506-E1518
-
-
Pasmant, E.1
Sabbagh, A.2
Spurlock, G.3
Laurendeau, I.4
Grillo, E.5
Hamel, M.J.6
Martin, L.7
Barbarot, S.8
Leheup, B.9
Rodriguez, D.10
Lacombe, D.11
Dollfus, H.12
Pasquier, L.13
Isidor, B.14
Ferkal, S.15
Soulier, J.16
Sanson, M.17
Dieux-Coeslier, A.18
Bièche, I.19
Parfait, B.20
Vidaud, M.21
Wolkenstein, P.22
Upadhyaya, M.23
Vidaud, D.24
more..
-
8
-
-
4143082585
-
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
-
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 2004, 75:410-423.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 410-423
-
-
Kehrer-Sawatzki, H.1
Kluwe, L.2
Sandig, C.3
Kohn, M.4
Wimmer, K.5
Krammer, U.6
Peyrl, A.7
Jenne, D.E.8
Hansmann, I.9
Mautner, V.F.10
-
9
-
-
77952712186
-
A novel third type of recurrent NF1 microdeletion mediated by non-allelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
-
Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H: A novel third type of recurrent NF1 microdeletion mediated by non-allelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Hum Mutat 2010, 31:742-751.
-
(2010)
Hum Mutat
, vol.31
, pp. 742-751
-
-
Bengesser, K.1
Cooper, D.N.2
Steinmann, K.3
Kluwe, L.4
Chuzhanova, N.A.5
Wimmer, K.6
Tatagiba, M.7
Tinschert, S.8
Mautner, V.F.9
Kehrer-Sawatzki, H.10
-
10
-
-
84857061060
-
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
-
Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H: Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Hum Mutat 2012, 33:372-383.
-
(2012)
Hum Mutat
, vol.33
, pp. 372-383
-
-
Zickler, A.M.1
Hampp, S.2
Messiaen, L.3
Bengesser, K.4
Mussotter, T.5
Roehl, A.C.6
Wimmer, K.7
Mautner, V.F.8
Kluwe, L.9
Upadhyaya, M.10
Pasmant, E.11
Chuzhanova, N.12
Kestler, H.A.13
Högel, J.14
Legius, E.15
Claes, K.16
Cooper, D.N.17
Kehrer-Sawatzki, H.18
-
11
-
-
84891922445
-
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination
-
Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H: Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. Hum Mutat 2014, 35:215-226.
-
(2014)
Hum Mutat
, vol.35
, pp. 215-226
-
-
Bengesser, K.1
Vogt, J.2
Mussotter, T.3
Mautner, V.F.4
Messiaen, L.5
Cooper, D.N.6
Kehrer-Sawatzki, H.7
-
12
-
-
33751523300
-
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
-
De Raedt T, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E: Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 2006, 38:1419-1423.
-
(2006)
Nat Genet
, vol.38
, pp. 1419-1423
-
-
De Raedt, T.1
Stephens, M.2
Heyns, I.3
Brems, H.4
Thijs, D.5
Messiaen, L.6
Stephens, K.7
Lazaro, C.8
Wimmer, K.9
Kehrer-Sawatzki, H.10
Vidaud, D.11
Kluwe, L.12
Marynen, P.13
Legius, E.14
-
13
-
-
70349335202
-
5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome
-
Damert A, Raiz J, Horn AV, Lower J, Wang H, Xing J, Batzer MA, Lower R, Schumann GG: 5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome. Genome Res 2009, 19:1992-2008.
-
(2009)
Genome Res
, vol.19
, pp. 1992-2008
-
-
Damert, A.1
Raiz, J.2
Horn, A.V.3
Lower, J.4
Wang, H.5
Xing, J.6
Batzer, M.A.7
Lower, R.8
Schumann, G.G.9
-
14
-
-
77956858478
-
A mobile threat to genome stability, the impact of non-LTR retrotransposons upon the human genome
-
Konkel MK, Batzer MA: A mobile threat to genome stability, the impact of non-LTR retrotransposons upon the human genome. Semin Cancer Biol 2010, 20:211-221.
-
(2010)
Semin Cancer Biol
, vol.20
, pp. 211-221
-
-
Konkel, M.K.1
Batzer, M.A.2
-
15
-
-
70349325340
-
Exon-trapping mediated by the human retrotransposon SVA
-
Hancks DC, Ewing AD, Chen JE, Tokunaga K, Kazazian HH Jr: Exon-trapping mediated by the human retrotransposon SVA. Genome Res 2009, 19:1983-1991.
-
(2009)
Genome Res
, vol.19
, pp. 1983-1991
-
-
Hancks, D.C.1
Ewing, A.D.2
Chen, J.E.3
Tokunaga, K.4
Kazazian H.H, Jr.5
-
16
-
-
80051702066
-
Retrotransposition of marked SVA elements by human L1s in cultured cells
-
Hancks DC, Goodier JL, Mandal PK, Cheung LE, Kazazian HH Jr: Retrotransposition of marked SVA elements by human L1s in cultured cells. Hum Mol Genet 2011, 20:3386-3400.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3386-3400
-
-
Hancks, D.C.1
Goodier, J.L.2
Mandal, P.K.3
Cheung, L.E.4
Kazazian H.H, Jr.5
-
17
-
-
84868693365
-
The minimal active human SVA retrotransposon requires only the 5'-hexamer and Alu-like domains
-
Hancks DC, Mandal PK, Cheung LE, Kazazian HH Jr: The minimal active human SVA retrotransposon requires only the 5'-hexamer and Alu-like domains. Mol Cell Biol 2012, 32:4718-4726.
-
(2012)
Mol Cell Biol
, vol.32
, pp. 4718-4726
-
-
Hancks, D.C.1
Mandal, P.K.2
Cheung, L.E.3
Kazazian H.H, Jr.4
-
18
-
-
0345636604
-
SVA elements are nonautonomous retrotransposons that cause disease in humans
-
Ostertag EM, Goodier JL, Zhang Y, Kazazian HH Jr: SVA elements are nonautonomous retrotransposons that cause disease in humans. Am J Hum Genet 2003, 73:1444-1451.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1444-1451
-
-
Ostertag, E.M.1
Goodier, J.L.2
Zhang, Y.3
Kazazian H.H, Jr.4
-
19
-
-
84857888415
-
The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery
-
Raiz J, Damert A, Chira S, Held U, Klawitter S, Hamdorf M, Löwer J, Strätling WH, Löwer R, Schumann GG: The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery. Nucleic Acids Res 2012, 40:1666-1683.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 1666-1683
-
-
Raiz, J.1
Damert, A.2
Chira, S.3
Held, U.4
Klawitter, S.5
Hamdorf, M.6
Löwer, J.7
Strätling, W.H.8
Löwer, R.9
Schumann, G.G.10
-
20
-
-
0036613245
-
DNA repair mediated by endonuclease-independent LINE-1 retrotransposition
-
Morrish TA, Gilbert N, Myers JS, Vincent BJ, Stamato TD, Taccioli GE, Batzer MA, Moran JV: DNA repair mediated by endonuclease-independent LINE-1 retrotransposition. Nat Genet 2002, 31:159-165.
-
(2002)
Nat Genet
, vol.31
, pp. 159-165
-
-
Morrish, T.A.1
Gilbert, N.2
Myers, J.S.3
Vincent, B.J.4
Stamato, T.D.5
Taccioli, G.E.6
Batzer, M.A.7
Moran, J.V.8
-
21
-
-
33645786590
-
dbRIP, a highly integrated database of retrotransposon insertion polymorphisms in humans
-
Wang J, Song L, Grover D, Azrak S, Batzer MA, Liang P: dbRIP, a highly integrated database of retrotransposon insertion polymorphisms in humans. Hum Mutat 2006, 27:323-329.
-
(2006)
Hum Mutat
, vol.27
, pp. 323-329
-
-
Wang, J.1
Song, L.2
Grover, D.3
Azrak, S.4
Batzer, M.A.5
Liang, P.6
-
22
-
-
80052318161
-
A comprehensive map of mobile element insertion polymorphisms in humans
-
Stewart C, Kural D, Stromberg MP, Walker JA, Konkel MK, Stutz AM, Urban AE, Grubert F, Lam HY, Lee WP, Busby M, Indap AR, Garrison E, HuffC, Xing J, Snyder MP, Jorde LB, Batzer MA, Korbel JO, Marth GT: A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet 2011, 7:e1002236.
-
(2011)
PLoS Genet
, vol.7
, pp. e1002236
-
-
Stewart, C.1
Kural, D.2
Stromberg, M.P.3
Walker, J.A.4
Konkel, M.K.5
Stutz, A.M.6
Urban, A.E.7
Grubert, F.8
Lam, H.Y.9
Lee, W.P.10
Busby, M.11
Indap, A.R.12
Garrison, E.13
Huff, C.14
Xing, J.15
Snyder, M.P.16
Jorde, L.B.17
Batzer, M.A.18
Korbel, J.O.19
Marth, G.T.20
more..
-
23
-
-
84867471219
-
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
-
Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H: Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Hum Mutat 2012, 33:1599-1609.
-
(2012)
Hum Mutat
, vol.33
, pp. 1599-1609
-
-
Vogt, J.1
Mussotter, T.2
Bengesser, K.3
Claes, K.4
Högel, J.5
Chuzhanova, N.6
Fu, C.7
van den Ende, J.8
Mautner, V.F.9
Cooper, D.N.10
Messiaen, L.11
Kehrer-Sawatzki, H.12
-
24
-
-
84876374695
-
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs
-
Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF: Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet 2013, 92:375-386.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 375-386
-
-
Chen, X.1
Shen, Y.2
Zhang, F.3
Chiang, C.4
Pillalamarri, V.5
Blumenthal, I.6
Talkowski, M.7
Wu, B.L.8
Gusella, J.F.9
-
25
-
-
84875980851
-
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
-
Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E: Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet 2013, 9:e1003358.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003358
-
-
Verdin, H.1
D'haene, B.2
Beysen, D.3
Novikova, Y.4
Menten, B.5
Sante, T.6
Lapunzina, P.7
Nevado, J.8
Carvalho, C.M.9
Lupski, J.R.10
De Baere, E.11
-
26
-
-
77953232121
-
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP, rare CNVs as a cause for missing heritability
-
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR: Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP, rare CNVs as a cause for missing heritability. Am J Hum Genet 2010, 86:892-903.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 892-903
-
-
Zhang, F.1
Seeman, P.2
Liu, P.3
Weterman, M.A.4
Gonzaga-Jauregui, C.5
Towne, C.F.6
Batish, S.D.7
De Vriendt, E.8
De Jonghe, P.9
Rautenstrauss, B.10
Krause, K.H.11
Khajavi, M.12
Posadka, J.13
Vandenberghe, A.14
Palau, F.15
Van Maldergem, L.16
Baas, F.17
Timmerman, V.18
Lupski, J.R.19
-
27
-
-
38049115657
-
The mechanism of human nonhomologous DNA end joining
-
Lieber MR: The mechanism of human nonhomologous DNA end joining. J BiolChem 2008, 283:1-5.
-
(2008)
J BiolChem
, vol.283
, pp. 1-5
-
-
Lieber, M.R.1
-
28
-
-
0242468933
-
Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences
-
Ma JL, Kim EM, Haber JE, Lee SE: Yeast Mre11 and Rad1 proteins define a Ku-independent mechanism to repair double-strand breaks lacking overlapping end sequences. Mol Cell Biol 2003, 23:8820-8828.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 8820-8828
-
-
Ma, J.L.1
Kim, E.M.2
Haber, J.E.3
Lee, S.E.4
-
29
-
-
54849404458
-
MMEJ repair of double-strand breaks (director's cut), deleted sequences and alternative endings
-
McVey M, Lee SE: MMEJ repair of double-strand breaks (director's cut), deleted sequences and alternative endings. Trends Genet 2008, 24:529-538.
-
(2008)
Trends Genet
, vol.24
, pp. 529-538
-
-
McVey, M.1
Lee, S.E.2
-
30
-
-
84877321963
-
Microhomology-mediated end joining and homologous recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells
-
Truong LN, Li Y, Shi LZ, Hwang PY, He J, Wang H, Razavian N, Berns MW, Wu X: Microhomology-mediated end joining and homologous recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells. Proc Natl Acad Sci USA 2013, 110:7720-7725.
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 7720-7725
-
-
Truong, L.N.1
Li, Y.2
Shi, L.Z.3
Hwang, P.Y.4
He, J.5
Wang, H.6
Razavian, N.7
Berns, M.W.8
Wu, X.9
-
31
-
-
44849143972
-
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
-
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G: Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 2008, 18:847-858.
-
(2008)
Genome Res
, vol.18
, pp. 847-858
-
-
Bauters, M.1
Van Esch, H.2
Friez, M.J.3
Boespflug-Tanguy, O.4
Zenker, M.5
Vianna-Morgante, A.M.6
Rosenberg, C.7
Ignatius, J.8
Raynaud, M.9
Hollanders, K.10
Govaerts, K.11
Vandenreijt, K.12
Niel, F.13
Blanc, P.14
Stevenson, R.E.15
Fryns, J.P.16
Marynen, P.17
Schwartz, C.E.18
Froyen, G.19
-
32
-
-
66149120624
-
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
-
Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR: Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 2009, 18:2188-2203.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2188-2203
-
-
Carvalho, C.M.1
Zhang, F.2
Liu, P.3
Patel, A.4
Sahoo, T.5
Bacino, C.A.6
Shaw, C.7
Peacock, S.8
Pursley, A.9
Tavyev, Y.J.10
Ramocki, M.B.11
Nawara, M.12
Obersztyn, E.13
Vianna-Morgante, A.M.14
Stankiewicz, P.15
Zoghbi, H.Y.16
Cheung, S.W.17
Lupski, J.R.18
-
33
-
-
85027936863
-
Replicative mechanisms for CNV formation are error prone
-
Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR: Replicative mechanisms for CNV formation are error prone. Nat Genet 2013, 45:1319-1326.
-
(2013)
Nat Genet
, vol.45
, pp. 1319-1326
-
-
Carvalho, C.M.1
Pehlivan, D.2
Ramocki, M.B.3
Fang, P.4
Alleva, B.5
Franco, L.M.6
Belmont, J.W.7
Hastings, P.J.8
Lupski, J.R.9
-
34
-
-
59249105978
-
A microhomology-mediated break-induced replication model for the origin of human copy number variation
-
Hastings PJ, Ira G, Lupski JR: A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 2009, 5:e1000327.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000327
-
-
Hastings, P.J.1
Ira, G.2
Lupski, J.R.3
-
35
-
-
67651098662
-
Mechanisms of change in gene copy number
-
Hastings PJ, Lupski JR, Rosenberg SM, Ira G: Mechanisms of change in gene copy number. Nat Rev Genet 2009, 10:551-564.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 551-564
-
-
Hastings, P.J.1
Lupski, J.R.2
Rosenberg, S.M.3
Ira, G.4
-
36
-
-
37349109667
-
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
-
Lee JA, Carvalho CMB, Lupski JR: A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007, 131:1235-1247.
-
(2007)
Cell
, vol.131
, pp. 1235-1247
-
-
Lee, J.A.1
Carvalho, C.M.B.2
Lupski, J.R.3
-
37
-
-
67649878596
-
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
-
Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR: The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 2009, 41:849-853.
-
(2009)
Nat Genet
, vol.41
, pp. 849-853
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
38
-
-
80052971350
-
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
-
Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM: On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 2011, 32:1075-1099.
-
(2011)
Hum Mutat
, vol.32
, pp. 1075-1099
-
-
Cooper, D.N.1
Bacolla, A.2
Férec, C.3
Vasquez, K.M.4
Kehrer-Sawatzki, H.5
Chen, J.M.6
-
39
-
-
4644327494
-
Breakpoints of gross deletions coincide with non-B DNA conformations
-
Bacolla A, Jaworski A, Larson JE, Jakupciak JP, Chuzhanova N, Abeysinghe SS, O'Connell CD, Cooper DN, Wells RD: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004, 101:14162-14167.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 14162-14167
-
-
Bacolla, A.1
Jaworski, A.2
Larson, J.E.3
Jakupciak, J.P.4
Chuzhanova, N.5
Abeysinghe, S.S.6
O'Connell, C.D.7
Cooper, D.N.8
Wells, R.D.9
-
40
-
-
80055003130
-
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
-
Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR: Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 2011, 43:1074-1081.
-
(2011)
Nat Genet
, vol.43
, pp. 1074-1081
-
-
Carvalho, C.M.1
Ramocki, M.B.2
Pehlivan, D.3
Franco, L.M.4
Gonzaga-Jauregui, C.5
Fang, P.6
McCall, A.7
Pivnick, E.K.8
Hines-Dowell, S.9
Seaver, L.H.10
Friehling, L.11
Lee, S.12
Smith, R.13
Del Gaudio, D.14
Withers, M.15
Liu, P.16
Cheung, S.W.17
Belmont, J.W.18
Zoghbi, H.Y.19
Hastings, P.J.20
Lupski, J.R.21
more..
-
41
-
-
84858386984
-
Nonspaced inverted DNA repeats are preferential targets for homology-directed gene repair in mammalian cells
-
Holkers M, de Vries AA, Gonçalves MA: Nonspaced inverted DNA repeats are preferential targets for homology-directed gene repair in mammalian cells. Nucleic Acids Res 2012, 40:1984-1999.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 1984-1999
-
-
Holkers, M.1
de Vries, A.A.2
Gonçalves, M.A.3
-
42
-
-
77956406859
-
The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements
-
Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS: The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet 2010, 78:299-309.
-
(2010)
Clin Genet
, vol.78
, pp. 299-309
-
-
Kurahashi, H.1
Inagaki, H.2
Ohye, T.3
Kogo, H.4
Tsutsumi, M.5
Kato, T.6
Tong, M.7
Emanuel, B.S.8
-
43
-
-
0034679610
-
Inverted Alu repeats unstable in yeast are excluded from the human genome
-
Lobachev KS, Stenger JE, Kozyreva OG, Jurka J, Gordenin DA, Resnick MA: Inverted Alu repeats unstable in yeast are excluded from the human genome. EMBO J 2000, 19:3822-3830.
-
(2000)
EMBO J
, vol.19
, pp. 3822-3830
-
-
Lobachev, K.S.1
Stenger, J.E.2
Kozyreva, O.G.3
Jurka, J.4
Gordenin, D.A.5
Resnick, M.A.6
-
44
-
-
77955570109
-
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction, the t(8;22) (q24.13;q11.21)
-
Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA: A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction, the t(8;22) (q24.13;q11.21). Am J Hum Genet 2010, 87:209-218.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 209-218
-
-
Sheridan, M.B.1
Kato, T.2
Haldeman-Englert, C.3
Jalali, G.R.4
Milunsky, J.M.5
Zou, Y.6
Klaes, R.7
Gimelli, G.8
Gimelli, S.9
Gemmill, R.M.10
Drabkin, H.A.11
-
45
-
-
48249141027
-
Replication stalling at unstable inverted repeats, interplay between DNA hairpins and fork stabilizing proteins
-
Voineagu I, Narayanan V, Lobachev KS, Mirkin SM: Replication stalling at unstable inverted repeats, interplay between DNA hairpins and fork stabilizing proteins. Proc Natl Acad Sci USA 2008, 105:9936-9941.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 9936-9941
-
-
Voineagu, I.1
Narayanan, V.2
Lobachev, K.S.3
Mirkin, S.M.4
-
46
-
-
34249907843
-
Non-B DNA conformations, mutagenesis and disease
-
Wells RD: Non-B DNA conformations, mutagenesis and disease. Trends BiochemSci 2007, 32:271-278.
-
(2007)
Trends BiochemSci
, vol.32
, pp. 271-278
-
-
Wells, R.D.1
-
47
-
-
73749085274
-
Non-B DNA structure-induced genetic instability and evolution
-
Zhao J, Bacolla A, Wang G, Vasquez KM: Non-B DNA structure-induced genetic instability and evolution. Cell Mol Life Sci 2010, 67:43-62.
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 43-62
-
-
Zhao, J.1
Bacolla, A.2
Wang, G.3
Vasquez, K.M.4
-
48
-
-
84883679009
-
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
-
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W: NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res 2013, 23:1395-1409.
-
(2013)
Genome Res
, vol.23
, pp. 1395-1409
-
-
Dittwald, P.1
Gambin, T.2
Szafranski, P.3
Li, J.4
Amato, S.5
Divon, M.Y.6
Rodríguez Rojas, L.X.7
Elton, L.E.8
Scott, D.A.9
Schaaf, C.P.10
Torres-Martinez, W.11
-
49
-
-
34247333809
-
Mobile DNA in Old World monkeys, a glimpse through the rhesus macaque genome
-
Han K, Konkel MK, Xing J, Wang H, Lee J, Meyer TJ, Huang CT, Sandifer E, Hebert K, Barnes EW, Hubley R, Miller W, Smit AFA, Ullmer B, Batzer MA: Mobile DNA in Old World monkeys, a glimpse through the rhesus macaque genome. Science 2007, 316:238-240.
-
(2007)
Science
, vol.316
, pp. 238-240
-
-
Han, K.1
Konkel, M.K.2
Xing, J.3
Wang, H.4
Lee, J.5
Meyer, T.J.6
Huang, C.T.7
Sandifer, E.8
Hebert, K.9
Barnes, E.W.10
Hubley, R.11
Miller, W.12
Smit, A.F.A.13
Ullmer, B.14
Batzer, M.A.15
-
50
-
-
28444448708
-
SVA elements, a hominid-specific retroposon family
-
Wang H, Xing J, Grover D, Hedges DJ, Han K, Walker JA, Batzer MA: SVA elements, a hominid-specific retroposon family. J MolBiol 2005, 354:994-1007.
-
(2005)
J MolBiol
, vol.354
, pp. 994-1007
-
-
Wang, H.1
Xing, J.2
Grover, D.3
Hedges, D.J.4
Han, K.5
Walker, J.A.6
Batzer, M.A.7
-
51
-
-
33845218958
-
Emergence of primate genes by retrotransposon-mediated sequence transduction
-
Xing J, Wang H, Belancio VP, Cordaux R, Deininger PL, Batzer MA: Emergence of primate genes by retrotransposon-mediated sequence transduction. Proc Natl Acad Sci USA 2006, 103:17608-17613.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 17608-17613
-
-
Xing, J.1
Wang, H.2
Belancio, V.P.3
Cordaux, R.4
Deininger, P.L.5
Batzer, M.A.6
-
52
-
-
84877910983
-
Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns
-
Savage AL, Bubb VJ, Breen G, Quinn JP: Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns. BMC Evol Biol 2013, 13:101.
-
(2013)
BMC Evol Biol
, vol.13
, pp. 101
-
-
Savage, A.L.1
Bubb, V.J.2
Breen, G.3
Quinn, J.P.4
-
53
-
-
70349318211
-
The impact of retrotransposons on human genome evolution
-
Cordaux R, Batzer MA: The impact of retrotransposons on human genome evolution. Nat Rev Genet 2009, 10:691-703.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 691-703
-
-
Cordaux, R.1
Batzer, M.A.2
-
54
-
-
67649982842
-
Mobile elements create structural variation, analysis of a complete human genome
-
Xing J, Zhang Y, Han K, Salem AH, Sen SK, HuffCD, Zhou Q, Kirkness EF, Levy S, Batzer MA, Jorde LB: Mobile elements create structural variation, analysis of a complete human genome. Genome Res 2009, 19:1516-1526.
-
(2009)
Genome Res
, vol.19
, pp. 1516-1526
-
-
Xing, J.1
Zhang, Y.2
Han, K.3
Salem, A.H.4
Sen, S.K.5
Huff, C.D.6
Zhou, Q.7
Kirkness, E.F.8
Levy, S.9
Batzer, M.A.10
Jorde, L.B.11
-
55
-
-
74849095591
-
Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA
-
Bantysh OB, Buzdin AA: Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA. Biochemistry (Mosc) 2009, 74:1393-1399.
-
(2009)
Biochemistry (Mosc)
, vol.74
, pp. 1393-1399
-
-
Bantysh, O.B.1
Buzdin, A.A.2
-
56
-
-
84857047355
-
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells
-
Roehl AC, Mussotter T, Cooper DN, Kluwe L, Wimmer K, Högel J, Zetzmann M, Vogt J, Mautner VF, Kehrer-Sawatzki H: Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. Hum Mutat 2012, 33:541-550.
-
(2012)
Hum Mutat
, vol.33
, pp. 541-550
-
-
Roehl, A.C.1
Mussotter, T.2
Cooper, D.N.3
Kluwe, L.4
Wimmer, K.5
Högel, J.6
Zetzmann, M.7
Vogt, J.8
Mautner, V.F.9
Kehrer-Sawatzki, H.10
-
57
-
-
36749092844
-
Type-2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
-
Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner V-F, Kehrer-Sawatzki H: Type-2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet 2007, 81:1201-1220.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1201-1220
-
-
Steinmann, K.1
Cooper, D.N.2
Kluwe, L.3
Chuzhanova, N.A.4
Senger, C.5
Serra, E.6
Lazaro, C.7
Gilaberte, M.8
Wimmer, K.9
Mautner, V-F.10
Kehrer-Sawatzki, H.11
-
58
-
-
77955065411
-
Somatic expression of LINE-1 elements in human tissues
-
Belancio VP, Roy-Engel AM, Pochampally RR, Deininger P: Somatic expression of LINE-1 elements in human tissues. Nucleic Acids Res 2010, 38:3909-3922.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 3909-3922
-
-
Belancio, V.P.1
Roy-Engel, A.M.2
Pochampally, R.R.3
Deininger, P.4
-
59
-
-
3042589222
-
Cell type-specific expression of LINE-1 open reading frames 1 and 2 in fetal and adult human tissues
-
Ergün S, Buschmann C, Heukeshoven J, Dammann K, Schnieders F, Lauke H, Chalajour F, Kilic N, Strätling WH, Schumann GG: Cell type-specific expression of LINE-1 open reading frames 1 and 2 in fetal and adult human tissues. J Biol Chem 2004, 279:27753-27763.
-
(2004)
J Biol Chem
, vol.279
, pp. 27753-27763
-
-
Ergün, S.1
Buschmann, C.2
Heukeshoven, J.3
Dammann, K.4
Schnieders, F.5
Lauke, H.6
Chalajour, F.7
Kilic, N.8
Strätling, W.H.9
Schumann, G.G.10
-
60
-
-
66149168927
-
L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism
-
Kano H, Godoy I, Courtney C, Vetter MR, Gerton GL, Ostertag EM, Kazazian HH Jr: L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism. Genes Dev 2009, 23:1303-1312.
-
(2009)
Genes Dev
, vol.23
, pp. 1303-1312
-
-
Kano, H.1
Godoy, I.2
Courtney, C.3
Vetter, M.R.4
Gerton, G.L.5
Ostertag, E.M.6
Kazazian Jr., H.H.7
-
61
-
-
81855178276
-
Somatic retrotransposition alters the genetic landscape of the human brain
-
Baillie JK, Barnett MW, Upton KR, Gerhardt DJ, Richmond TA, De Sapio F, Brennan PM, Rizzu P, Smith S, Fell M, Talbot RT, Gustincich S, Freeman TC, Mattick JS, Hume DA, Heutink P, Carninci P, Jeddeloh JA, Faulkner GJ: Somatic retrotransposition alters the genetic landscape of the human brain. Nature 2011, 479:534-537.
-
(2011)
Nature
, vol.479
, pp. 534-537
-
-
Baillie, J.K.1
Barnett, M.W.2
Upton, K.R.3
Gerhardt, D.J.4
Richmond, T.A.5
De Sapio, F.6
Brennan, P.M.7
Rizzu, P.8
Smith, S.9
Fell, M.10
Talbot, R.T.11
Gustincich, S.12
Freeman, T.C.13
Mattick, J.S.14
Hume, D.A.15
Heutink, P.16
Carninci, P.17
Jeddeloh, J.A.18
Faulkner, G.J.19
-
62
-
-
69349096044
-
L1 retrotransposition in human neural progenitor cells
-
Coufal NG, Garcia-Perez JL, Peng GE, Yeo GW, Mu Y, Lovci MT, Morell M, O'Shea KS, Moran JV, Gage FH: L1 retrotransposition in human neural progenitor cells. Nature 2009, 460:1127-1131.
-
(2009)
Nature
, vol.460
, pp. 1127-1131
-
-
Coufal, N.G.1
Garcia-Perez, J.L.2
Peng, G.E.3
Yeo, G.W.4
Mu, Y.5
Lovci, M.T.6
Morell, M.7
O'Shea, K.S.8
Moran, J.V.9
Gage, F.H.10
-
63
-
-
84868032982
-
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
-
Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA: Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell 2012, 151:483-496.
-
(2012)
Cell
, vol.151
, pp. 483-496
-
-
Evrony, G.D.1
Cai, X.2
Lee, E.3
Hills, L.B.4
Elhosary, P.C.5
Lehmann, H.S.6
Parker, J.J.7
Atabay, K.D.8
Gilmore, E.C.9
Poduri, A.10
Park, P.J.11
Walsh, C.A.12
-
64
-
-
20544466648
-
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
-
Muotri AR, Chu VT, Marchetto MC, Deng W, Moran JV, Gage FH: Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition. Nature 2005, 435:903-910.
-
(2005)
Nature
, vol.435
, pp. 903-910
-
-
Muotri, A.R.1
Chu, V.T.2
Marchetto, M.C.3
Deng, W.4
Moran, J.V.5
Gage, F.H.6
-
65
-
-
77955271952
-
LINE-1 retrotransposons, mediators of somatic variation in neuronal genomes?
-
Singer T, McConnell MJ, Marchetto MC, Coufal NG, Gage FH: LINE-1 retrotransposons, mediators of somatic variation in neuronal genomes? Trends Neurosci 2010, 33:345-354.
-
(2010)
Trends Neurosci
, vol.33
, pp. 345-354
-
-
Singer, T.1
McConnell, M.J.2
Marchetto, M.C.3
Coufal, N.G.4
Gage, F.H.5
-
66
-
-
77953889472
-
Natural mutagenesis of human genomes by endogenous retrotransposons
-
Iskow RC, McCabe MT, Mills RE, Torene S, Pittard WS, Neuwald AF, Van Meir EG, Vertino PM, Devine SE: Natural mutagenesis of human genomes by endogenous retrotransposons. Cell 2010, 141:1253-1261.
-
(2010)
Cell
, vol.141
, pp. 1253-1261
-
-
Iskow, R.C.1
McCabe, M.T.2
Mills, R.E.3
Torene, S.4
Pittard, W.S.5
Neuwald, A.F.6
Van Meir, E.G.7
Vertino, P.M.8
Devine, S.E.9
-
67
-
-
84865285978
-
Landscape of somatic retrotransposition in human cancers
-
Lee E, Iskow R, Yang L, Gokcumen O, Haseley P, Luquette LJ 3rd, Lohr JG, Harris CC, Ding L, Wilson RK, Wheeler DA, Gibbs RA, Kucherlapati R, Lee C, Kharchenko PV, Park PJ, Cancer Genome Atlas Research Network: Landscape of somatic retrotransposition in human cancers. Science 2012, 337:967-971.
-
(2012)
Science
, vol.337
, pp. 967-971
-
-
Lee, E.1
Iskow, R.2
Yang, L.3
Gokcumen, O.4
Haseley, P.5
Luquette I.I.I, L.J.6
Lohr, J.G.7
Harris, C.C.8
Ding, L.9
Wilson, R.K.10
Wheeler, D.A.11
Gibbs, R.A.12
Kucherlapati, R.13
Lee, C.14
Kharchenko, P.V.15
Park, P.J.16
Cancer Genome Atlas Research, Network.17
-
68
-
-
84875698271
-
Endogenous retrotransposition activates oncogenic pathways in hepatocellular carcinoma
-
Shukla R, Upton KR, Muñoz-Lopez M, Gerhardt DJ, Fisher ME, Nguyen T, Brennan PM, Baillie JK, Collino A, Ghisletti S, Sinha S, Iannelli F, Radaelli E, Dos Santos A, Rapoud D, Guettier C, Samuel D, Natoli G, Carninci P, Ciccarelli FD, Garcia-Perez JL, Faivre J, Faulkner GJ: Endogenous retrotransposition activates oncogenic pathways in hepatocellular carcinoma. Cell 2013, 153:101-111.
-
(2013)
Cell
, vol.153
, pp. 101-111
-
-
Shukla, R.1
Upton, K.R.2
Muñoz-Lopez, M.3
Gerhardt, D.J.4
Fisher, M.E.5
Nguyen, T.6
Brennan, P.M.7
Baillie, J.K.8
Collino, A.9
Ghisletti, S.10
Sinha, S.11
Iannelli, F.12
Radaelli, E.13
Dos Santos, A.14
Rapoud, D.15
Guettier, C.16
Samuel, D.17
Natoli, G.18
Carninci, P.19
Ciccarelli, F.D.20
Garcia-Perez, J.L.21
Faivre, J.22
Faulkner, G.J.23
more..
-
69
-
-
84870482898
-
Extensive somatic L1 retrotransposition in colorectal tumors
-
Solyom S, Ewing AD, Rahrmann EP, Doucet T, Nelson HH, Burns MB, Harris RS, Sigmon DF, Casella A, Erlanger B, Wheelan S, Upton KR, Shukla R, Faulkner GJ, Largaespada DA, Kazazian HH Jr: Extensive somatic L1 retrotransposition in colorectal tumors. Genome Res 2012, 22:2328-2338.
-
(2012)
Genome Res
, vol.22
, pp. 2328-2338
-
-
Solyom, S.1
Ewing, A.D.2
Rahrmann, E.P.3
Doucet, T.4
Nelson, H.H.5
Burns, M.B.6
Harris, R.S.7
Sigmon, D.F.8
Casella, A.9
Erlanger, B.10
Wheelan, S.11
Upton, K.R.12
Shukla, R.13
Faulkner, G.J.14
Largaespada, D.A.15
Kazazian H.H, Jr.16
-
70
-
-
65649135139
-
Genetic evidence that the non-homologous end-joining repair pathway is involved in LINE retrotransposition
-
Suzuki J, Yamaguchi K, Kajikawa M, Ichiyanagi K, Adachi N, Koyama H, Takeda S, Okada N: Genetic evidence that the non-homologous end-joining repair pathway is involved in LINE retrotransposition. PLoS Genet 2009, 5:e1000461.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000461
-
-
Suzuki, J.1
Yamaguchi, K.2
Kajikawa, M.3
Ichiyanagi, K.4
Adachi, N.5
Koyama, H.6
Takeda, S.7
Okada, N.8
-
71
-
-
22844438250
-
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
-
Chen JM, Stenson PD, Cooper DN, Férec C: A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet 2005, 117:411-427.
-
(2005)
Hum Genet
, vol.117
, pp. 411-427
-
-
Chen, J.M.1
Stenson, P.D.2
Cooper, D.N.3
Férec, C.4
-
72
-
-
24144489347
-
Two independent retrotransposon insertions at the same site within the coding region of BTK
-
Conley ME, Partain JD, Norland SM, ShurtleffSA, Kazazian HH Jr: Two independent retrotransposon insertions at the same site within the coding region of BTK. Hum Mutat 2005, 25:324-325.
-
(2005)
Hum Mutat
, vol.25
, pp. 324-325
-
-
Conley, M.E.1
Partain, J.D.2
Norland, S.M.3
Shurtleff, S.A.4
Kazazian Jr., H.H.5
-
73
-
-
81755177867
-
The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion
-
Wimmer K, Callens T, Wernstedt A, Messiaen L: The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. PLoS Genet 2011, 7:e1002371.
-
(2011)
PLoS Genet
, vol.7
, pp. e1002371
-
-
Wimmer, K.1
Callens, T.2
Wernstedt, A.3
Messiaen, L.4
-
74
-
-
84862301082
-
Human genomic deletions generated by SVA-associated events
-
Lee J, Ha J, Son SY, Han K: Human genomic deletions generated by SVA-associated events. CompFunct Genomics 2012, 2012:807270.
-
(2012)
CompFunct Genomics
, vol.2012
, pp. 807270
-
-
Lee, J.1
Ha, J.2
Son, S.Y.3
Han, K.4
-
75
-
-
0037047355
-
Genomic deletions created upon LINE-1 retrotransposition
-
Gilbert N, Lutz-Prigge S, Moran JV: Genomic deletions created upon LINE-1 retrotransposition. Cell 2002, 110:315-325.
-
(2002)
Cell
, vol.110
, pp. 315-325
-
-
Gilbert, N.1
Lutz-Prigge, S.2
Moran, J.V.3
-
76
-
-
34347372625
-
Deletion of the entire HLA-A gene accompanied by an insertion of a retrotransposon
-
Takasu M, Hayashi R, Maruya E, Ota M, Imura K, Kougo K, Kobayashi C, Saji H, Ishikawa Y, Asai T, Tokunaga K: Deletion of the entire HLA-A gene accompanied by an insertion of a retrotransposon. Tissue Antigens 2007, 70:144-150.
-
(2007)
Tissue Antigens
, vol.70
, pp. 144-150
-
-
Takasu, M.1
Hayashi, R.2
Maruya, E.3
Ota, M.4
Imura, K.5
Kougo, K.6
Kobayashi, C.7
Saji, H.8
Ishikawa, Y.9
Asai, T.10
Tokunaga, K.11
-
77
-
-
0036235773
-
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes
-
Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A: Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. Hum Mutat 2002, 19:526-535.
-
(2002)
Hum Mutat
, vol.19
, pp. 526-535
-
-
Kutsche, K.1
Ressler, B.2
Katzera, H.G.3
Orth, U.4
Gillessen-Kaesbach, G.5
Morlot, S.6
Schwinger, E.7
Gal, A.8
-
78
-
-
0034018595
-
Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency-partial/complete deletions and rearrangement of the antithrombin gene
-
Beauchamp NJ, Makris M, Preston FE, Peake IR, Daly ME: Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency-partial/complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 2000, 83:715-721.
-
(2000)
Thromb Haemost
, vol.83
, pp. 715-721
-
-
Beauchamp, N.J.1
Makris, M.2
Preston, F.E.3
Peake, I.R.4
Daly, M.E.5
-
79
-
-
34848871920
-
A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency
-
Okubo M, Horinishi A, Saito M, Ebara T, Endo Y, Kaku K, Murase T, Eto M: A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. Mol Genet Metab 2007, 92:229-233.
-
(2007)
Mol Genet Metab
, vol.92
, pp. 229-233
-
-
Okubo, M.1
Horinishi, A.2
Saito, M.3
Ebara, T.4
Endo, Y.5
Kaku, K.6
Murase, T.7
Eto, M.8
-
80
-
-
34247215966
-
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome
-
Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T, Kosaki K: An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Am J Med Genet A 2007, 143:721-726.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 721-726
-
-
Udaka, T.1
Okamoto, N.2
Aramaki, M.3
Torii, C.4
Kosaki, R.5
Hosokai, N.6
Hayakawa, T.7
Takahata, N.8
Takahashi, T.9
Kosaki, K.10
-
81
-
-
33947573898
-
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
-
Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G: Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 2007, 90:408-413.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 408-413
-
-
Schollen, E.1
Keldermans, L.2
Foulquier, F.3
Briones, P.4
Chabas, A.5
Sánchez-Valverde, F.6
Adamowicz, M.7
Pronicka, E.8
Wevers, R.9
Matthijs, G.10
-
82
-
-
0034099230
-
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
-
Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM: Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum Genet 2000, 106:101-107.
-
(2000)
Hum Genet
, vol.106
, pp. 101-107
-
-
Su, L.K.1
Steinbach, G.2
Sawyer, J.C.3
Hindi, M.4
Ward, P.A.5
Lynch, P.M.6
-
83
-
-
77954540079
-
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion
-
Morisada N, RendtorffN, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjaerg L, Shirahata A: Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol 2010, 25:1343-1348.
-
(2010)
Pediatr Nephrol
, vol.25
, pp. 1343-1348
-
-
Morisada, N.1
Rendtorff, N.2
Nozu, K.3
Morishita, T.4
Miyakawa, T.5
Matsumoto, T.6
Hisano, S.7
Iijima, K.8
Tranebjaerg, L.9
Shirahata, A.10
-
84
-
-
33846918894
-
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element
-
Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C: A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. Hum Mutat 2007, 28:137-142.
-
(2007)
Hum Mutat
, vol.28
, pp. 137-142
-
-
Miné, M.1
Chen, J.M.2
Brivet, M.3
Desguerre, I.4
Marchant, D.5
de Lonlay, P.6
Bernard, A.7
Férec, C.8
Abitbol, M.9
Ricquier, D.10
Marsac, C.11
-
85
-
-
84875464936
-
Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene
-
Peixoto A, Pinheiro M, Massena L, Santos C, Pinto P, Rocha P, Pinto C, Teixeira MR: Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene. J Hum Genet 2013, 58:78-83.
-
(2013)
J Hum Genet
, vol.58
, pp. 78-83
-
-
Peixoto, A.1
Pinheiro, M.2
Massena, L.3
Santos, C.4
Pinto, P.5
Rocha, P.6
Pinto, C.7
Teixeira, M.R.8
-
86
-
-
84862507347
-
Active human retrotransposons, variation and disease
-
Hancks DC, Kazazian HH Jr: Active human retrotransposons, variation and disease. Curr Opin Genet Dev 2012, 22:191-203.
-
(2012)
Curr Opin Genet Dev
, vol.22
, pp. 191-203
-
-
Hancks, D.C.1
Kazazian H.H, Jr.2
-
87
-
-
84875377539
-
Retroelements in human disease
-
Kaer K, Speek M: Retroelements in human disease. Gene 2013, 518:231-241.
-
(2013)
Gene
, vol.518
, pp. 231-241
-
-
Kaer, K.1
Speek, M.2
-
88
-
-
84876573062
-
Non-B DB v2.0, a database of predicted non-B DNA-forming motifs and its associated tools
-
Cer RZ, Donohue DE, Mudunuri US, Temiz NA, Loss MA, Starner NJ, Halusa GN, Volfovsky N, Yi M, Luke BT, Bacolla A, Collins JR, Stephens RM: Non-B DB v2.0, a database of predicted non-B DNA-forming motifs and its associated tools. Nucleic Acids Res 2013, 41:D94-D100.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. D94-D100
-
-
Cer, R.Z.1
Donohue, D.E.2
Mudunuri, U.S.3
Temiz, N.A.4
Loss, M.A.5
Starner, N.J.6
Halusa, G.N.7
Volfovsky, N.8
Yi, M.9
Luke, B.T.10
Bacolla, A.11
Collins, J.R.12
Stephens, R.M.13
-
89
-
-
85000053911
-
-
MEME Suite. [http://meme.nbcr.net/meme/]
-
-
-
-
90
-
-
85000135980
-
-
UCSC Repeat Masker. [http://genome.ucsc.edu/]
-
-
-
-
91
-
-
85000138284
-
-
BLASTN. [http://blast.ncbi.nlm.nih.gov/Blast.cgi]
-
-
-
-
92
-
-
85000124705
-
-
The NCBI Gene Expression Omnibus. [http://www.ncbi.nlm.nih.gov/geo/]
-
-
-
|