-
1
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski, J.R. (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet., 14, 417-422.
-
(1998)
Trends Genet.
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
2
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz, P. and Lupski, J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet., 18, 74-82.
-
(2002)
Trends Genet.
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
3
-
-
0037315253
-
Genomic disorders recombination-based disease resulting from genomic architecture
-
2002 Curt Stern Award Address
-
Lupski, J.R. (2003) 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am. J. Hum. Genet., 72, 246-252.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 246-252
-
-
Lupski, J.R.1
-
4
-
-
10744221892
-
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
-
Kurotaki, N., Harada, N., Shimokawa, O., Miyake, N., Kawame, H., Uetake, K., Makita, Y., Kondoh, T., Ogata, T., Hasegawa, T. et al. (2003) Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum. Mutat., 22, 378-387.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 378-387
-
-
Kurotaki, N.1
Harada, N.2
Shimokawa, O.3
Miyake, N.4
Kawame, H.5
Uetake, K.6
Makita, Y.7
Kondoh, T.8
Ogata, T.9
Hasegawa, T.10
-
5
-
-
10744232005
-
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
-
de Mollerat, X.J., Gurrieri, F., Morgan, C.T., Sangiorgi, E., Everman, D.B., Gaspari, P., Amiel, J., Bamshad, M.J., Lyle, R., Blouin, J.L. et al. (2003) A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum. Mol. Genet., 12, 1959-1971.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1959-1971
-
-
de Mollerat, X.J.1
Gurrieri, F.2
Morgan, C.T.3
Sangiorgi, E.4
Everman, D.B.5
Gaspari, P.6
Amiel, J.7
Bamshad, M.J.8
Lyle, R.9
Blouin, J.L.10
-
6
-
-
0344308337
-
Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
-
Milunsky, J.M., Huang, X.L. (2003) Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin. Genet., 64, 509-516.
-
(2003)
Clin. Genet.
, vol.64
, pp. 509-516
-
-
Milunsky, J.M.1
Huang, X.L.2
-
7
-
-
0022976432
-
Nonhomologous recombination in mammalian cells: Role for short sequence homologies in the joining reaction
-
Roth, D.B. and Wilson, J.H. (1986) Nonhomologous recombination in mammalian cells: Role for short sequence homologies in the joining reaction. Mol. Cell. Biol., 6, 4295-4304.
-
(1986)
Mol. Cell. Biol.
, vol.6
, pp. 4295-4304
-
-
Roth, D.B.1
Wilson, J.H.2
-
8
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J.R., de 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. et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell, 66, 219-232.
-
(1991)
Cell
, vol.66
, 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
-
9
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance, P.F., Abbas, N., Lensch, M.W., Pentao, L., Roa, B.B., Patel, P.I. and Lupski, J.R. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet., 3, 223-228.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
10
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen, K.S., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A.C., Lee, C.C. and Lupski, J.R. (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet., 17, 154-163.
-
(1997)
Nat. Genet.
, vol.17
, pp. 154-163
-
-
Chen, K.S.1
Manian, P.2
Koeuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
Lupski, J.R.8
-
11
-
-
0031886974
-
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
-
Perez Jurado, L.A., Wang, Y.K., Peoples, R., Coloma, A., Cruces, J. and Francke, U. (1998) A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum. Mol. Genet., 7, 325-334.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 325-334
-
-
Perez Jurado, L.A.1
Wang, Y.K.2
Peoples, R.3
Coloma, A.4
Cruces, J.5
Francke, U.6
-
12
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki, L., Chen, K.S., Park, S.S., Osterholm, D.E., Withers, M.A., Kimonis, V., Summers, A.M., Meschino, W.S., Anyane-Yeboa, K., Kashork, C.D. et al. (2000) Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet., 24, 84-87.
-
(2000)
Nat. Genet.
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.S.2
Park, S.S.3
Osterholm, D.E.4
Withers, M.A.5
Kimonis, V.6
Summers, A.M.7
Meschino, W.S.8
Anyane-Yeboa, K.9
Kashork, C.D.10
-
13
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter, L.T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D.M., Gibbs, R.A. and Lupski, J.R. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat. Genet., 12, 288-297.
-
(1996)
Nat. Genet.
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
14
-
-
0032695458
-
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP
-
Lopes, J., Tardieu, S., Silander, K., Blair, I., Vandenberghe, A., Palau, F., Ruberg, M., Brice, A. and LeGuern, E. (1999) Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum. Mol. Genet., 8, 2285-2292.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2285-2292
-
-
Lopes, J.1
Tardieu, S.2
Silander, K.3
Blair, I.4
Vandenberghe, A.5
Palau, F.6
Ruberg, M.7
Brice, A.8
LeGuern, E.9
-
15
-
-
0031972093
-
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
-
Reiter, L.T., Hastings, P.J., Nelis, E., De Jonghe, P., Van Broeckhoven, C. and Lupski, J.R. (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am. J. Hum. Genet., 62, 1023-1033.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1023-1033
-
-
Reiter, L.T.1
Hastings, P.J.2
Nelis, E.3
De Jonghe, P.4
Van Broeckhoven, C.5
Lupski, J.R.6
-
16
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
Lopez-Correa, C., Dorschner, M., Brems, H., Lazaro, C., Clementi, M., Upadhyaya, M., Dooijes, D., Moog, U., Kehrer-Sawatzki, H., Rutkowski, J.L. et al. (2001) Recombination hotspot in NF1 microdeletion patients. Hum. Mol. Genet., 10, 1387-1392.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1387-1392
-
-
Lopez-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
-
17
-
-
0038728033
-
Mutational mechanisms of Williams-Beuren syndrome deletions
-
Bayes, M., Magano, L.F., Rivera, N., Flores, R. and Perez Jurado, L.A. (2003) Mutational mechanisms of Williams-Beuren syndrome deletions. Am. J. Hum. Genet., 73, 131-151.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 131-151
-
-
Bayes, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Perez Jurado, L.A.5
-
18
-
-
0348230989
-
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion/duplication 17p11.2
-
Bi, W., Park, S.-S., Shaw, C.J, Withers, M.A., Patel, P.I., Lupski, J.R. (2003) Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion/duplication 17p11.2. Am. J. Hum. Genet., 73, 1302-1315.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1302-1315
-
-
Bi, W.1
Park, S.-S.2
Shaw, C.J.3
Withers, M.A.4
Patel, P.I.5
Lupski, J.R.6
-
19
-
-
0036782130
-
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure
-
Repping, S., Skaletsky, H., Lange, J., Silber, S., Van Der Veen, F., Oates, R.D., Page, D.C. and Rozen, S. (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet., 71, 906-922.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 906-922
-
-
Repping, S.1
Skaletsky, H.2
Lange, J.3
Silber, S.4
Van Der Veen, F.5
Oates, R.D.6
Page, D.C.7
Rozen, S.8
-
20
-
-
0030479536
-
The origin of interspersed repeats in the human genome
-
Smit, A.F. (1996) The origin of interspersed repeats in the human genome. Curr. Opin. Genet. Dev., 6, 743-748.
-
(1996)
Curr. Opin. Genet. Dev.
, vol.6
, pp. 743-748
-
-
Smit, A.F.1
-
21
-
-
0035184973
-
The AZFc region ofthe Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
-
Kuroda-Kawaguchi, T., Skaletsky, H., Brown, L.G., Minx, P.J., Cordum, H.S., Waterston, R.H., Wilson, R.K., Silber, S., Oates, R., Rozen, S. et al. (2001) The AZFc region ofthe Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet., 29, 279-286.
-
(2001)
Nat. Genet.
, vol.29
, pp. 279-286
-
-
Kuroda-Kawaguchi, T.1
Skaletsky, H.2
Brown, L.G.3
Minx, P.J.4
Cordum, H.S.5
Waterston, R.H.6
Wilson, R.K.7
Silber, S.8
Oates, R.9
Rozen, S.10
-
22
-
-
9144264835
-
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large palindromic low-copy repeats
-
Barbouti, A., Stankiewicz, P., Birren, B., Nusbaum, C., Cuomo, C., Hoglund, M., Johansson, B., Hagemeijer, A., Park, S.-S., Mitelman, F., Lupski, J.R., Fioretos, T. (2004) The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large palindromic low-copy repeats. Am. J. Hum. Genet., 74, 1-10.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1-10
-
-
Barbouti, A.1
Stankiewicz, P.2
Birren, B.3
Nusbaum, C.4
Cuomo, C.5
Hoglund, M.6
Johansson, B.7
Hagemeijer, A.8
Park, S.-S.9
Mitelman, F.10
Lupski, J.R.11
Fioretos, T.12
-
23
-
-
0037162516
-
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: Possible involvement in the genesis of the Philadelphia chromosome translocation
-
Saglio, G., Storlazzi, C.T., Giugliano, E., Surace, C., Anelli, L., Rege-Cambrin, G., Zagaria, A., Jimenez Velasco, A., Heiniger, A., Scaravaglio, P. et al. (2002) A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: Possible involvement in the genesis of the Philadelphia chromosome translocation. Proc. Natl Acad. Sci. USA, 99, 9882-9887.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 9882-9887
-
-
Saglio, G.1
Storlazzi, C.T.2
Giugliano, E.3
Surace, C.4
Anelli, L.5
Rege-Cambrin, G.6
Zagaria, A.7
Jimenez Velasco, A.8
Heiniger, A.9
Scaravaglio, P.10
-
24
-
-
0037447443
-
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
-
Gimelli, G., Pujana, M.A., Patricelli, M.G., Russo, S., Giardino, D., Larizza, L., Cheung, J., Armengol, L., Schinzel, A., Estivill, X. et al. (2003) Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum. Mol. Genet., 12, 849-858.
-
(2003)
Hum. Mol. Genet.
, vol.12
, 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
-
25
-
-
0036071427
-
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
-
Giglio, S., Calvari, V., Gregato, G., Gimelli, G., Camanini, S., Giorda, R., Ragusa, A., Guerneri, S., Selicorni, A., Stumm, M. et al. (2002) Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am. J. Hum. Genet., 71, 276-285.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 276-285
-
-
Giglio, S.1
Calvari, V.2
Gregato, G.3
Gimelli, G.4
Camanini, S.5
Giorda, R.6
Ragusa, A.7
Guerneri, S.8
Selicorni, A.9
Stumm, M.10
-
26
-
-
19044366773
-
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
-
Inoue, K., Osaka, H., Thurston, V.C., Clarke, J.T., Yoneyama, A., Rosenbarker, L., Bird, T.D., Hodes, M.E., Shaffer, L.G. and Lupski, J.R. (2002) Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am. J. Hum. Genet., 71, 838-853.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 838-853
-
-
Inoue, K.1
Osaka, H.2
Thurston, V.C.3
Clarke, J.T.4
Yoneyama, A.5
Rosenbarker, L.6
Bird, T.D.7
Hodes, M.E.8
Shaffer, L.G.9
Lupski, J.R.10
-
27
-
-
0038067849
-
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
-
Stankiewicz, P., Shaw, C.J., Dapper, J.D., Wakui, K., Shaffer, L.G., Withers, M., Elizondo, L., Park, S.S. and Lupski, J.R. (2003) Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am. J. Hum. Genet., 72, 1101-1116.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1101-1116
-
-
Stankiewicz, P.1
Shaw, C.J.2
Dapper, J.D.3
Wakui, K.4
Shaffer, L.G.5
Withers, M.6
Elizondo, L.7
Park, S.S.8
Lupski, J.R.9
-
28
-
-
0034831138
-
Segmental duplications: Organization and impact within the current human genome project assembly
-
Bailey, J.A., Yavor, A.M., Massa, H.F., Trask, B.J. and Eichler, E.E. (2001) Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res., 11, 1005-1017.
-
(2001)
Genome Res.
, vol.11
, pp. 1005-1017
-
-
Bailey, J.A.1
Yavor, A.M.2
Massa, H.F.3
Trask, B.J.4
Eichler, E.E.5
-
29
-
-
0347382445
-
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution
-
Babcock, M., Pavlicek, A., Spiteri, E., Kashork, C.D., Ioshikhes, I., Shaffer, L.G., Jurka, J., Morrow, B.E. (2003) Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res., 13, 2519-2532.
-
(2003)
Genome Res.
, vol.13
, pp. 2519-2532
-
-
Babcock, M.1
Pavlicek, A.2
Spiteri, E.3
Kashork, C.D.4
Ioshikhes, I.5
Shaffer, L.G.6
Jurka, J.7
Morrow, B.E.8
-
30
-
-
0142059650
-
An alu transposition model for the origin and expansion of human segmental duplications
-
Bailey, J.A., Liu, G. and Eichler, E.E. (2003) An alu transposition model for the origin and expansion of human segmental duplications. Am. J. Hum. Genet., 73, 823-834.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 823-834
-
-
Bailey, J.A.1
Liu, G.2
Eichler, E.E.3
-
31
-
-
0036138187
-
Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22
-
Bailey, J.A., Yavor, A.M., Viggiano, L., Misceo, D., Horvath, J.E., Archidiacono, N., Schwartz, S., Rocchi, M. and Eichler, E.E. (2002) Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22. Am. J. Hum. Genet., 70, 83-100.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 83-100
-
-
Bailey, J.A.1
Yavor, A.M.2
Viggiano, L.3
Misceo, D.4
Horvath, J.E.5
Archidiacono, N.6
Schwartz, S.7
Rocchi, M.8
Eichler, E.E.9
-
32
-
-
0036591666
-
Molecular-evolutionary mechanisms for genomic disorders
-
Stankiewicz, P. and Lupski, J.R. (2002) Molecular-evolutionary mechanisms for genomic disorders. Curr. Opin. Genet. Dev., 12, 312-319.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 312-319
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
33
-
-
0344586770
-
The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3
-
Stankiewicz, P., Cheung, S.W., Shaw, C.J., Saleki, R., Szigeti, K. and Lupski, J.R. (2003) The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res., 101, 118-123.
-
(2003)
Cytogenet. Genome Res.
, vol.101
, pp. 118-123
-
-
Stankiewicz, P.1
Cheung, S.W.2
Shaw, C.J.3
Saleki, R.4
Szigeti, K.5
Lupski, J.R.6
-
34
-
-
0035159359
-
AT-rich palindromes mediate the constitutional t(11;22) translocation
-
Edelmann, L., Spiteri, E., Koren, K., Pulijaal, V., Bialer, M.G., Shanske, A., Goldberg, R. and Morrow, B.E. (2001) AT-rich palindromes mediate the constitutional t(11;22) translocation. Am. J. Hum. Genet., 68, 1-13.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1-13
-
-
Edelmann, L.1
Spiteri, E.2
Koren, K.3
Pulijaal, V.4
Bialer, M.G.5
Shanske, A.6
Goldberg, R.7
Morrow, B.E.8
-
35
-
-
10744223807
-
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
-
Spiteri, E., Babcock, M., Kashork, C.D., Wakui, K., Gogineni, S., Lewis, D.A., Williams, K.M., Minoshima, S., Sasaki, T., Shimizu, N. et al. (2003) Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum. Mol. Genet., 12, 1823-1837.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1823-1837
-
-
Spiteri, E.1
Babcock, M.2
Kashork, C.D.3
Wakui, K.4
Gogineni, S.5
Lewis, D.A.6
Williams, K.M.7
Minoshima, S.8
Sasaki, T.9
Shimizu, N.10
-
36
-
-
0034234453
-
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
-
Kurahashi, H., Shaikh, T.H., Hu, P., Roe, B.A., Emanuel, B.S. and Budarf, M.L. (2000) Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum. Mol. Genet., 9, 1665-1670.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1665-1670
-
-
Kurahashi, H.1
Shaikh, T.H.2
Hu, P.3
Roe, B.A.4
Emanuel, B.S.5
Budarf, M.L.6
-
37
-
-
0035509701
-
Long AT-rich palindromes and the constitutional t(11;22) breakpoint
-
Kurahashi, H. and Emanuel, B.S. (2001) Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Hum. Mol. Genet., 10, 2605-2617.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2605-2617
-
-
Kurahashi, H.1
Emanuel, B.S.2
-
38
-
-
0037371163
-
The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats
-
Kurahashi, H., Shaikh, T., Takata, M., Toda, T. and Emanuel, B.S. (2003) The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats. Am. J. Hum. Genet., 72, 733-738.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 733-738
-
-
Kurahashi, H.1
Shaikh, T.2
Takata, M.3
Toda, T.4
Emanuel, B.S.5
-
39
-
-
0242440822
-
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)
-
Nimmakayalu, M.A., Gotter, A.L., Shaikh, T.H. and Emanuel, B.S. (2003) A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22). Hum. Mol. Genet., 12, 2817-2825.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2817-2825
-
-
Nimmakayalu, M.A.1
Gotter, A.L.2
Shaikh, T.H.3
Emanuel, B.S.4
-
40
-
-
0347287037
-
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2
-
Gotter, A.L., Shaikh, T.H., Budarf, M.L., Rhodes, C.H. and Emanuel, B.S. (2004) A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum. Mol. Genet., 13, 103-115.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 103-115
-
-
Gotter, A.L.1
Shaikh, T.H.2
Budarf, M.L.3
Rhodes, C.H.4
Emanuel, B.S.5
-
41
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
-
Huang, B., Crolla, J.A., Christian, S.L., Wolf-Ledbetter, M.E., Macha, M.E., Papenhausen, P.N. and Ledbetter, D.H. (1997) Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum. Genet., 99, 11-17.
-
(1997)
Hum. Genet.
, vol.99
, pp. 11-17
-
-
Huang, B.1
Crolla, J.A.2
Christian, S.L.3
Wolf-Ledbetter, M.E.4
Macha, M.E.5
Papenhausen, P.N.6
Ledbetter, D.H.7
-
42
-
-
0031946990
-
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
-
Wandstrat, A.E., Leana-Cox, J., Jenkins, L. and Schwartz, S. (1998) Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am. J. Hum. Genet., 62, 925-936.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 925-936
-
-
Wandstrat, A.E.1
Leana-Cox, J.2
Jenkins, L.3
Schwartz, S.4
-
43
-
-
0031663725
-
Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
-
McTaggart, K.E., Budarf, M.L., Driscoll, D.A., Emanuel, B.S., Ferreira, P. and McDermid, H.E. (1998) Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet. Cell Genet., 81, 222-228.
-
(1998)
Cytogenet. Cell Genet.
, vol.81
, pp. 222-228
-
-
McTaggart, K.E.1
Budarf, M.L.2
Driscoll, D.A.3
Emanuel, B.S.4
Ferreira, P.5
McDermid, H.E.6
-
44
-
-
0035190032
-
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: Molecular analysis and delineation of the phenotype
-
Stankiewicz, P., Parka, S.S., Holder, S.E., Waters, C.S., Palmer, R.W., Berend, S.A., Shaffer, L.G., Potocki, L. and Lupski, J.R. (2001) Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: Molecular analysis and delineation of the phenotype. Clin. Genet., 60, 336-344.
-
(2001)
Clin. Genet.
, vol.60
, pp. 336-344
-
-
Stankiewicz, P.1
Parka, S.S.2
Holder, S.E.3
Waters, C.S.4
Palmer, R.W.5
Berend, S.A.6
Shaffer, L.G.7
Potocki, L.8
Lupski, J.R.9
-
45
-
-
0036590135
-
Analysis of 22 deletion breakpoints in dystrophin intron 49
-
Nobile, C., Toffolatti, L., Rizzi, F., Simionati, B., Nigro, V., Cardazzo, B., Patarnello, T., Valle, G. and Danieli, G.A. (2002) Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum. Genet., 110, 418-421.
-
(2002)
Hum. Genet.
, vol.110
, pp. 418-421
-
-
Nobile, C.1
Toffolatti, L.2
Rizzi, F.3
Simionati, B.4
Nigro, V.5
Cardazzo, B.6
Patarnello, T.7
Valle, G.8
Danieli, G.A.9
-
46
-
-
0030741634
-
Mathematical model to predict regions of chromatin attachment to the nuclear matrix
-
Singh, G.B., Kramer, J.A. and Krawetz, S.A. (1997) Mathematical model to predict regions of chromatin attachment to the nuclear matrix. Nucl. Acids Res., 25, 1419-1425.
-
(1997)
Nucl. Acids Res.
, vol.25
, pp. 1419-1425
-
-
Singh, G.B.1
Kramer, J.A.2
Krawetz, S.A.3
-
47
-
-
0032957881
-
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
-
Inoue, K., Osaka, H., Imaizumi, K., Nezu, A., Takanashi, J., Arii, J., Murayama, K., Ono, J., Kikawa, Y., Mito, T. et al. (1999) Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations. Ann. Neurol., 45, 624-632.
-
(1999)
Ann. Neurol.
, vol.45
, pp. 624-632
-
-
Inoue, K.1
Osaka, H.2
Imaizumi, K.3
Nezu, A.4
Takanashi, J.5
Arii, J.6
Murayama, K.7
Ono, J.8
Kikawa, Y.9
Mito, T.10
-
48
-
-
1842441230
-
Fine mapping of duplication endpoints in Pelizaeus-Merzbacher disease
-
Hobson, G., Cundall, M., Sperle, K., Kamholz, J., Garbern, J., Heng, H., Sistermans, E., Malcolm, S., Woodward, K. (2003) Fine mapping of duplication endpoints in Pelizaeus-Merzbacher disease. Am. J. Hum. Genet., 73 (suppl.), 342.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.SUPPL.
, pp. 342
-
-
Hobson, G.1
Cundall, M.2
Sperle, K.3
Kamholz, J.4
Garbern, J.5
Heng, H.6
Sistermans, E.7
Malcolm, S.8
Woodward, K.9
-
49
-
-
1842597888
-
Characterization of the breakpoints of PLP1 duplication in three cases of Pelizaeus-Merzbacher disease
-
Iwaki, A., Kondo, J., Ototsuji, M., Kurosawa, K., Fukumaki, Y. (2003) Characterization of the breakpoints of PLP1 duplication in three cases of Pelizaeus-Merzbacher disease. Am. J. Hum. Genet., 73 (suppl.), 549.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.SUPPL.
, pp. 549
-
-
Iwaki, A.1
Kondo, J.2
Ototsuji, M.3
Kurosawa, K.4
Fukumaki, Y.5
-
50
-
-
0038406165
-
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
-
Heilstedt, H.A., Ballif, B.C., Howa L.A., Lewis, R.A., Stal, S., Kashork, C.D., Bacino, C.A., Shapira, S.K. and Shaffer, L.G. (2003) Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am. J. Hum. Genet., 72, 1200-1212.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1200-1212
-
-
Heilstedt, H.A.1
Ballif, B.C.2
Howa, L.A.3
Lewis, R.A.4
Stal, S.5
Kashork, C.D.6
Bacino, C.A.7
Shapira, S.K.8
Shaffer, L.G.9
-
51
-
-
0042232610
-
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage fusion-bridge cycles are involved in generating terminal deletions
-
Ballif, B.C., Yu, W., Shaw, C.A., Kashork, C.D. and Shaffer, L.G. (2003) Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage fusion-bridge cycles are involved in generating terminal deletions. Hum. Mol. Genet., 12, 2153-2165.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2153-2165
-
-
Ballif, B.C.1
Yu, W.2
Shaw, C.A.3
Kashork, C.D.4
Shaffer, L.G.5
-
52
-
-
0034490072
-
The relationship between spontaneous telomere loss and chromosome instability in a human tumor cell line
-
Fouladi, B., Sabatier, L., Miller, D., Pottier, G. and Murnane, J.P. (2000) The relationship between spontaneous telomere loss and chromosome instability in a human tumor cell line. Neoplasia, 2, 540-554.
-
(2000)
Neoplasia
, vol.2
, pp. 540-554
-
-
Fouladi, B.1
Sabatier, L.2
Miller, D.3
Pottier, G.4
Murnane, J.P.5
-
53
-
-
0036272490
-
Chromosome instability as a result of double-strand breaks near telomeres in mouse embryonic stem cells
-
Lo, A.W., Sprung, C.N., Fouladi, B., Pedram, M., Sabatier, L., Ricoul, M., Reynolds, G.E. and Murnane, J.P. (2002) Chromosome instability as a result of double-strand breaks near telomeres in mouse embryonic stem cells. Mol. Cell. Biol., 22, 4836-4850.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 4836-4850
-
-
Lo, A.W.1
Sprung, C.N.2
Fouladi, B.3
Pedram, M.4
Sabatier, L.5
Ricoul, M.6
Reynolds, G.E.7
Murnane, J.P.8
-
54
-
-
0038392953
-
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
-
Flint, J. and Knight, S. (2003) The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr. Opin. Genet. Dev., 13, 310-316.
-
(2003)
Curr. Opin. Genet. Dev.
, vol.13
, pp. 310-316
-
-
Flint, J.1
Knight, S.2
-
55
-
-
0035252636
-
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
-
Bruder, C.E., Hirvela, C., Tapia-Paez, I., Fransson, I., Segraves, R., Hamilton, G., Zhang, X.X., Evans, D.G., Wallace, A.J., Baser, M.E. et al. (2001) High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum. Mol. Genet., 10, 271-282.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 271-282
-
-
Bruder, C.E.1
Hirvela, C.2
Tapia-Paez, I.3
Fransson, I.4
Segraves, R.5
Hamilton, G.6
Zhang, X.X.7
Evans, D.G.8
Wallace, A.J.9
Baser, M.E.10
-
56
-
-
0037677609
-
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH
-
Veltman, J.A., Jonkers, Y., Nuijten, I., Janssen, I., van der Vliet, W., Huys, E., Vermeesch, J., Van Buggenhout, G., Fryns, J.P., Admiraal, R. et al. (2003) Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am. J. Hum. Genet., 72, 1578-1584.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1578-1584
-
-
Veltman, J.A.1
Jonkers, Y.2
Nuijten, I.3
Janssen, I.4
van der Vliet, W.5
Huys, E.6
Vermeesch, J.7
Van Buggenhout, G.8
Fryns, J.P.9
Admiraal, R.10
-
57
-
-
10744221541
-
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
-
Yu, W., Ballif, B.C., Kashork, C.D., Heilstedt, H.A., Howard, L.A., Cai, W.W., White, L.D., Liu, W., Beaudet, A.L., Bejjani, B.A. et al. (2003) Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum. Mol. Genet., 12, 2145-2152.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2145-2152
-
-
Yu, W.1
Ballif, B.C.2
Kashork, C.D.3
Heilstedt, H.A.4
Howard, L.A.5
Cai, W.W.6
White, L.D.7
Liu, W.8
Beaudet, A.L.9
Bejjani, B.A.10
-
58
-
-
1242269840
-
Comparative genomic hybridization using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
-
Shaw, C.J., Shaw, C.A., Yu, W., Stankiewicz, P., White, L.D., Beaudet, A.L. and Lupski, J.R. (2004) Comparative genomic hybridization using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet., 41, 113-119.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 113-119
-
-
Shaw, C.J.1
Shaw, C.A.2
Yu, W.3
Stankiewicz, P.4
White, L.D.5
Beaudet, A.L.6
Lupski, J.R.7
-
59
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers, L.E., De Vries, B.B., Osoegawa, K., Janssen, I.M., Feuth, T., Choy, C.O., Straatman, H., Van Der Vliet, W., Huys, E.H., Van Rijk, A. et al. (2003) Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am. J. Hum. Genet., 73, 1261-1270.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1261-1270
-
-
Vissers, L.E.1
De Vries, B.B.2
Osoegawa, K.3
Janssen, I.M.4
Feuth, T.5
Choy, C.O.6
Straatman, H.7
Van Der Vliet, W.8
Huys, E.H.9
Van Rijk, A.10
-
60
-
-
0242607574
-
Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
-
Ensenauer, R.E., Adeyinka, A., Flynn, H.C., Michels, V.V., Lindor, N.M., Dawson, D.B., Thorland, E.C., Lorentz, C.P., Goldstein, J.L., McDonald, M.T. et al. (2003) Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am. J. Hum. Genet., 73, 1027-1040.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1027-1040
-
-
Ensenauer, R.E.1
Adeyinka, A.2
Flynn, H.C.3
Michels, V.V.4
Lindor, N.M.5
Dawson, D.B.6
Thorland, E.C.7
Lorentz, C.P.8
Goldstein, J.L.9
McDonald, M.T.10
-
61
-
-
0037320728
-
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility
-
Bosch, E. and Jobling, M.A. (2003) Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum. Mol. Genet., 12, 341-347.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 341-347
-
-
Bosch, E.1
Jobling, M.A.2
-
62
-
-
0037432734
-
Chromosomal speciation and molecular divergence-accelerated evolution in rearranged chromosomes
-
Navarro, A. and Barton, N.H. (2003) Chromosomal speciation and molecular divergence-accelerated evolution in rearranged chromosomes. Science, 300, 321-324.
-
(2003)
Science
, vol.300
, pp. 321-324
-
-
Navarro, A.1
Barton, N.H.2
-
63
-
-
0015700969
-
Karyotype of the chimpanzee, Pan troglodytes, based on measurements and banding pattern: Comparison to the human karyotype
-
Warburton, D., Firschein, I.L., Miller, D.A. and Warburton, F.E. (1973) Karyotype of the chimpanzee, Pan troglodytes, based on measurements and banding pattern: Comparison to the human karyotype. Cytogenet. Cell Genet., 12, 453-461.
-
(1973)
Cytogenet. Cell Genet.
, vol.12
, pp. 453-461
-
-
Warburton, D.1
Firschein, I.L.2
Miller, D.A.3
Warburton, F.E.4
-
64
-
-
0034924052
-
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP
-
Stankiewicz, P., Park, S.S., Inoue, K. and Lupski, J.R. (2001) The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res., 11, 1205-1210.
-
(2001)
Genome Res.
, vol.11
, pp. 1205-1210
-
-
Stankiewicz, P.1
Park, S.S.2
Inoue, K.3
Lupski, J.R.4
-
65
-
-
0004532670
-
Molecular definition of pericentric inversions distinguishing the genomes of humans and chimpanzees since divergence from a common ancestor
-
Ph.D. dissertation, Baylor College of Medicine, Houston
-
Nickerson, E. (2000) Molecular definition of pericentric inversions distinguishing the genomes of humans and chimpanzees since divergence from a common ancestor. Ph.D. dissertation, Baylor College of Medicine, Houston.
-
(2000)
-
-
Nickerson, E.1
-
66
-
-
0642344260
-
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster
-
Locke, D.P., Archidiacono, N., Misceo, D., Cardone, M.F., Deschamps, S., Roe, B., Rocchi, M. and Eichler, E.E. (2003) Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster. Genome Biol., 4, R50.
-
(2003)
Genome Biol.
, vol.4
-
-
Locke, D.P.1
Archidiacono, N.2
Misceo, D.3
Cardone, M.F.4
Deschamps, S.5
Roe, B.6
Rocchi, M.7
Eichler, E.E.8
-
67
-
-
0345668476
-
Majority of divergence between closely related DNA samples is due to indels
-
Britten, R.J., Rowen, L., Williams, J. and Cameron, R.A. (2003) Majority of divergence between closely related DNA samples is due to indels. Proc. Natl Acad. Sci. USA, 100, 4661-4665.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 4661-4665
-
-
Britten, R.J.1
Rowen, L.2
Williams, J.3
Cameron, R.A.4
-
68
-
-
0037351279
-
Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates
-
Frazer, K.A., Chen, X., Hinds, D.A., Pant, P.V., Patil, N. and Cox, D.R. (2003) Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates. Genome Res., 13, 341-346.
-
(2003)
Genome Res.
, vol.13
, pp. 341-346
-
-
Frazer, K.A.1
Chen, X.2
Hinds, D.A.3
Pant, P.V.4
Patil, N.5
Cox, D.R.6
-
69
-
-
0034791035
-
High-resolution haplotype structure in the human genome
-
Daly, M.J., Rioux, J.D., Schaffner, S.F., Hudson, T.J. and Lander, E.S. (2001) High-resolution haplotype structure in the human genome. Nat. Genet., 29, 229-232.
-
(2001)
Nat. Genet.
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.S.5
-
70
-
-
0036407262
-
Molecular mechanisms for genomic disorders
-
Inoue, K. and Lupski, J.R. (2002) Molecular mechanisms for genomic disorders. A. Rev. Genomics Hum. Genet., 3, 199-242.
-
(2002)
A. Rev. Genomics Hum. Genet.
, vol.3
, pp. 199-242
-
-
Inoue, K.1
Lupski, J.R.2
-
71
-
-
0028102668
-
Mammalian meiotic recombination: A reexamination
-
Ashley, T. (1994) Mammalian meiotic recombination: A reexamination. Hum. Genet., 94, 587-593.
-
(1994)
Hum. Genet.
, vol.94
, pp. 587-593
-
-
Ashley, T.1
-
72
-
-
0030026809
-
Structural variation of the pseudoautosomal region between and within inbred mouse strains
-
Kipling, D., Wilson, H.E., Thomson, E.J., Lee, M., Perry, J., Palmer, S., Ashworth, A. and Cooke, H.J. (1996) Structural variation of the pseudoautosomal region between and within inbred mouse strains. Proc. Natl Acad. Sci. USA, 93, 171-175.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 171-175
-
-
Kipling, D.1
Wilson, H.E.2
Thomson, E.J.3
Lee, M.4
Perry, J.5
Palmer, S.6
Ashworth, A.7
Cooke, H.J.8
-
74
-
-
0034751131
-
Insertion of a telomere repeat sequence into a mammalian gene causes chromosome instability
-
Kilburn, A.E., Shea, M.J., Sargent, R.G. and Wilson, J.H. (2001) Insertion of a telomere repeat sequence into a mammalian gene causes chromosome instability. Mol. Cell. Biol., 21, 126-135.
-
(2001)
Mol. Cell. Biol.
, vol.21
, pp. 126-135
-
-
Kilburn, A.E.1
Shea, M.J.2
Sargent, R.G.3
Wilson, J.H.4
-
75
-
-
0030837535
-
Palindrome resolution and recombination in the mammalian germ line
-
Akgun, E., Zahn, J., Baumes, S., Brown, G., Liang, F., Romanienko, P.J., Lewis, S. and Jasin, M. (1997) Palindrome resolution and recombination in the mammalian germ line. Mol. Cell. Biol., 17, 5559-5570.
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 5559-5570
-
-
Akgun, E.1
Zahn, J.2
Baumes, S.3
Brown, G.4
Liang, F.5
Romanienko, P.J.6
Lewis, S.7
Jasin, M.8
-
76
-
-
0032795469
-
Palindromic DNA and genome stability. Further studies
-
Lewis, S., Akgun, E. and Jasin, M. (1999) Palindromic DNA and genome stability. Further studies. Ann. NY Acad. Sci., 870, 45-57.
-
(1999)
Ann. NY Acad. Sci.
, vol.870
, pp. 45-57
-
-
Lewis, S.1
Akgun, E.2
Jasin, M.3
-
77
-
-
0035902483
-
Repeat expansion by homologous recombination in the mouse germ line at palindromic sequences
-
Zhou, Z.H., Akgun, E. and Jasin, M. (2001) Repeat expansion by homologous recombination in the mouse germ line at palindromic sequences. Proc. Natl Acad. Sci. USA, 98, 8326-8333.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 8326-8333
-
-
Zhou, Z.H.1
Akgun, E.2
Jasin, M.3
-
78
-
-
0037405845
-
Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells
-
Meservy, J.L., Sargent, R.G., Iyer, R.R., Chan, F., McKenzie, G.J., Wells, R.D. and Wilson, J.H. (2003) Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol. Cell. Biol., 23, 3152-3162.
-
(2003)
Mol. Cell. Biol.
, vol.23
, pp. 3152-3162
-
-
Meservy, J.L.1
Sargent, R.G.2
Iyer, R.R.3
Chan, F.4
McKenzie, G.J.5
Wells, R.D.6
Wilson, J.H.7
-
79
-
-
0028267736
-
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
-
Meijer, H., de Graaff, E., Merckx, D.M., Jongbloed, R.J., de Die-Smulders, C.E., Engelen, J.J., Fryns, J.P., Curfs, P.M. and Oostra, B.A. (1994) A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum. Mol. Genet., 3, 615-620.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 615-620
-
-
Meijer, H.1
de Graaff, E.2
Merckx, D.M.3
Jongbloed, R.J.4
de Die-Smulders, C.E.5
Engelen, J.J.6
Fryns, J.P.7
Curfs, P.M.8
Oostra, B.A.9
-
80
-
-
0028873249
-
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
-
de Graaff, E., Rouillard, P., Willems, P.J., Smits, A.P., Rousseau, F. and Oostra, B.A. (1995) Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum. Mol. Genet., 4, 45-49.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 45-49
-
-
de Graaff, E.1
Rouillard, P.2
Willems, P.J.3
Smits, A.P.4
Rousseau, F.5
Oostra, B.A.6
-
81
-
-
0030012165
-
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene
-
Mila, M., Castellvi-Bel, S., Sanchez, A., Lazaro, C., Villa, M. and Estivill, X. (1996) Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J. Med. Genet., 33, 338-340.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 338-340
-
-
Mila, M.1
Castellvi-Bel, S.2
Sanchez, A.3
Lazaro, C.4
Villa, M.5
Estivill, X.6
-
82
-
-
0029790975
-
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation
-
Schmucker, B., Ballhausen, W.G. and Pfeiffer, R.A. (1996) Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation. Hum. Genet., 98, 409-414.
-
(1996)
Hum. Genet.
, vol.98
, pp. 409-414
-
-
Schmucker, B.1
Ballhausen, W.G.2
Pfeiffer, R.A.3
-
83
-
-
0342424768
-
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage
-
Jones, C., Mullenbach, R., Grossfeld, P., Auer, R., Favier, R., Chien, K., James, M., Tunnacliffe, A. and Cotter, F. (2000) Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage. Hum. Mol. Genet., 9, 1201-1208.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1201-1208
-
-
Jones, C.1
Mullenbach, R.2
Grossfeld, P.3
Auer, R.4
Favier, R.5
Chien, K.6
James, M.7
Tunnacliffe, A.8
Cotter, F.9
-
84
-
-
3242741800
-
Genomic disorders - Genome architecture results in susceptibility to DNA rearrangements causing common human traits
-
in press
-
Stankiewicz, P., Inoue, K., Bi, W., Walz, K., Park, S.-S., Kurotaki, N., Shaw, C.J., Fonseca, P., Yan, J., Lee, J.A., Khajavi, M. and Lupski, J.R. (2004) Genomic disorders - genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb. Symp. Quant. Biol., 68, in press.
-
(2004)
Cold Spring Harb. Symp. Quant. Biol.
, vol.68
-
-
Stankiewicz, P.1
Inoue, K.2
Bi, W.3
Walz, K.4
Park, S.-S.5
Kurotaki, N.6
Shaw, C.J.7
Fonseca, P.8
Yan, J.9
Lee, J.A.10
Khajavi, M.11
Lupski, J.R.12
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