-
1
-
-
0025183708
-
Basic local alignment search tool
-
Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. 1990. Basic local alignment search tool. J. Mol. Biol 215: 403-410.
-
(1990)
J. Mol. Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
2
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey, J.A., Gu, Z., Clark, R.A., Reinert, K., Samonte, R.V., Schwartz, S., Adams, M.D., Myers, E.W., Li, P.W., and Eichler, E.E. 2002a. Recent segmental duplications in the human genome. Science 297: 1003-1007.
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
Schwartz, S.6
Adams, M.D.7
Myers, E.W.8
Li, P.W.9
Eichler, E.E.10
-
3
-
-
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. 2002b. 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
-
4
-
-
0029910366
-
Requirements for ectopic homologous recombination in mammalian somatic cells
-
Baker, M.D., Read, L.R., Beatty, B.G., and Ng, P. 1996. Requirements for ectopic homologous recombination in mammalian somatic cells. Mol. Cell. Biol. 16: 7122-7132.
-
(1996)
Mol. Cell. Biol.
, vol.16
, pp. 7122-7132
-
-
Baker, M.D.1
Read, L.R.2
Beatty, B.G.3
Ng, P.4
-
5
-
-
0036250811
-
Alu repeats and human genomic diversity
-
Batzer, M.A. and Deininger, P.L. 2002. Alu repeats and human genomic diversity. Nat. Rev. Genet. 3: 370-379.
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 370-379
-
-
Batzer, M.A.1
Deininger, P.L.2
-
6
-
-
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
-
7
-
-
0035865257
-
Integration of cytogenetic landmarks into the draft sequence of the human genome
-
Cheung, V.G., Nowak, N., Jang, W., Kirsch, I.R., Zhao, S., Chen, X.N., Furey, T.S., Kim, U.J., Kuo, W.L., Olivier, M., et al. 2001. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409: 953-958.
-
(2001)
Nature
, vol.409
, pp. 953-958
-
-
Cheung, V.G.1
Nowak, N.2
Jang, W.3
Kirsch, I.R.4
Zhao, S.5
Chen, X.N.6
Furey, T.S.7
Kim, U.J.8
Kuo, W.L.9
Olivier, M.10
-
8
-
-
0037272006
-
ReevAluating human gene annotation: A second-generation analysis of chromosome 22
-
Collins, J.E., Goward, M.E., Cole, C.G., Smink, L.J., Huckle, E.J., Knowles, S., Bye, J.M., Beare, D.M., and Dunham, I. 2003. ReevAluating human gene annotation: A second-generation analysis of chromosome 22. Genome Res. 13: 27-36.
-
(2003)
Genome Res.
, vol.13
, pp. 27-36
-
-
Collins, J.E.1
Goward, M.E.2
Cole, C.G.3
Smink, L.J.4
Huckle, E.J.5
Knowles, S.6
Bye, J.M.7
Beare, D.M.8
Dunham, I.9
-
9
-
-
0036847319
-
Human L1 element target-primed reverse transcription in vitro
-
Cost G.J., Feng Q., Jacquier A., and Boeke J.D. 2002. Human L1 element target-primed reverse transcription in vitro. EMBO J. 21: 5899-5910.
-
(2002)
EMBO J.
, vol.21
, pp. 5899-5910
-
-
Cost, G.J.1
Feng, Q.2
Jacquier, A.3
Boeke, J.D.4
-
10
-
-
0037348842
-
Segmental duplications in euchromatic regions of human chromosome 5: A source of evolutionary instability and transcriptional innovation
-
Courseaux, A., Richard, F., Grosgeorge, J., Ortola, C., Viale, A., Turc-Carel, C., Dutrillaux, B., Gaudray, P., and Nahon, J.L. 2003. Segmental duplications in euchromatic regions of human chromosome 5: A source of evolutionary instability and transcriptional innovation. Genome Res. 13: 369-381.
-
(2003)
Genome Res.
, vol.13
, pp. 369-381
-
-
Courseaux, A.1
Richard, F.2
Grosgeorge, J.3
Ortola, C.4
Viale, A.5
Turc-Carel, C.6
Dutrillaux, B.7
Gaudray, P.8
Nahon, J.L.9
-
12
-
-
0018530622
-
RNA polymerase III transcriptional units are interspersed among human non-α-globin genes
-
Duncan, C., Biro, P.A., Choudary, P.V., Elder, J.T., Wang, R.R., Forget, B.G., de Riel, J.K., and Wiessman, S.M. 1979. RNA polymerase III transcriptional units are interspersed among human non-α-globin genes. Proc. Natl. Acad. Sci. 76: 5095-5099.
-
(1979)
Proc. Natl. Acad. Sci.
, vol.76
, pp. 5095-5099
-
-
Duncan, C.1
Biro, P.A.2
Choudary, P.V.3
Elder, J.T.4
Wang, R.R.5
Forget, B.G.6
de Riel, J.K.7
Wiessman, S.M.8
-
13
-
-
79960655760
-
The DNA sequence of human chromosome 22
-
Dunham, I., Shimizu, N., Roe, B.A., Chissoe, S., Hunt, A.R., Collins, J.E., Bruskiewich, R., Beare, D.M., Clamp, M., Smink, L.J., et al. 1999. The DNA sequence of human chromosome 22. Nature 402: 489-495.
-
(1999)
Nature
, vol.402
, pp. 489-495
-
-
Dunham, I.1
Shimizu, N.2
Roe, B.A.3
Chissoe, S.4
Hunt, A.R.5
Collins, J.E.6
Bruskiewich, R.7
Beare, D.M.8
Clamp, M.9
Smink, L.J.10
-
14
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
-
Edelmann, L., Pandita, R.K., and Morrow, B.E. 1999a. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet. 64: 1076-1086.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
15
-
-
0032790898
-
A common molecular basis for rearrangement disorders on chromosome 22q11
-
Edelmann, L., Pandita, R.K., Spiteri, E., Funke, B., Goldberg, R., Palanisamy, N., Chaganti, R.S., Magenis, E., Shprintzen, R.J., and Morrow, B.E. 1999b. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8:1157-1167.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
Funke, B.4
Goldberg, R.5
Palanisamy, N.6
Chaganti, R.S.7
Magenis, E.8
Shprintzen, R.J.9
Morrow, B.E.10
-
16
-
-
0009969062
-
Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition
-
Feng, Q., Moran, J.V., Kazazian Jr., H.H., and Boeke, J.D. 1996. Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87: 905-916.
-
(1996)
Cell
, vol.87
, pp. 905-916
-
-
Feng, Q.1
Moran, J.V.2
Kazazian Jr., H.H.3
Boeke, J.D.4
-
17
-
-
0023741620
-
Duplication of the BCR and γ-glutamyl transpeptidase genes
-
Heisterkamp, N. and Groffen, J. 1988. Duplication of the BCR and γ-glutamyl transpeptidase genes. Nucleic Acids Res. 16: 8045-8056.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 8045-8056
-
-
Heisterkamp, N.1
Groffen, J.2
-
18
-
-
0021811764
-
Structural organization of the BCR gene and its role in the Ph' translocation
-
Heisterkamp, N., Stam, K., Groffen, J., de Klein, A., and Grosveld, G. 1985. Structural organization of the BCR gene and its role in the Ph' translocation. Nature 315: 758-761.
-
(1985)
Nature
, vol.315
, pp. 758-761
-
-
Heisterkamp, N.1
Stam, K.2
Groffen, J.3
de Klein, A.4
Grosveld, G.5
-
19
-
-
0025743162
-
Identification of a human γ-glutamyl cleaving enzyme related to, but distinct from, γ-glutamyl transpeptidase
-
Heisterkamp, N., Rajpert-De Meyts, E., Uribe, L., Forman, H.J., and Groffen, J. 1991. Identification of a human γ-glutamyl cleaving enzyme related to, but distinct from, γ-glutamyl transpeptidase. Proc. Natl. Acad. Sci. 88: 6303-6307.
-
(1991)
Proc. Natl. Acad. Sci.
, vol.88
, pp. 6303-6307
-
-
Heisterkamp, N.1
Rajpert-De Meyts, E.2
Uribe, L.3
Forman, H.J.4
Groffen, J.5
-
20
-
-
0031055331
-
Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons
-
Jurka, J. 1997. Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc. Natl. Acad. Sci. 94: 1872-1877.
-
(1997)
Proc. Natl. Acad. Sci.
, vol.94
, pp. 1872-1877
-
-
Jurka, J.1
-
21
-
-
0034284437
-
Repbase update: A database and an electronic journal of repetitive elements
-
Jurka, J. 2000. Repbase update: A database and an electronic journal of repetitive elements. Trends Genet. 16: 418-420.
-
(2000)
Trends Genet.
, vol.16
, pp. 418-420
-
-
Jurka, J.1
-
22
-
-
0028952245
-
Simple repetitive DNA sequences from primates: Compilation and analysis
-
Jurka, J. and Pethiyagoda, C. 1995. Simple repetitive DNA sequences from primates: Compilation and analysis. J. Mol. Evol. 40: 120-126.
-
(1995)
J. Mol. Evol.
, vol.40
, pp. 120-126
-
-
Jurka, J.1
Pethiyagoda, C.2
-
23
-
-
0031894399
-
Mammalian retroposons integrate at kinkable DNA sites
-
Jurka, J., Klonowski, P., and Trifonov, E.N. 1998. Mammalian retroposons integrate at kinkable DNA sites. J. Biomol. Struct. Dyn. 15: 717-721.
-
(1998)
J. Biomol. Struct. Dyn.
, vol.15
, pp. 717-721
-
-
Jurka, J.1
Klonowski, P.2
Trifonov, E.N.3
-
24
-
-
0036226603
-
BLAT - The BLAST-like alignment tool
-
Kent, W.J. 2002. BLAT - The BLAST-like alignment tool. Genome Res. 12: 656-664.
-
(2002)
Genome Res.
, vol.12
, pp. 656-664
-
-
Kent, W.J.1
-
25
-
-
0036778597
-
The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors
-
Kolomietz E., Meyn, M.S., Pandita, A., and Squire, J.A. 2002. The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 35: 97-112.
-
(2002)
Genes Chromosomes Cancer
, vol.35
, pp. 97-112
-
-
Kolomietz, E.1
Meyn, M.S.2
Pandita, A.3
Squire, J.A.4
-
26
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., et al. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
FitzHugh, W.10
-
27
-
-
0023114469
-
Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells
-
Liskay, R.M., Letsou, A., and Stachelek, J.L. 1987. Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells. Genetics 115: 161-167.
-
(1987)
Genetics
, vol.115
, pp. 161-167
-
-
Liskay, R.M.1
Letsou, A.2
Stachelek, J.L.3
-
28
-
-
0024825947
-
Homologous recombination between the LTRs of a human retrovirus-like element causes a 5-kb deletion in two siblings
-
Mager, D.L. and Goodchild, N.L. 1989. Homologous recombination between the LTRs of a human retrovirus-like element causes a 5-kb deletion in two siblings. Am. J. Hum. Genet. 45: 848-854.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 848-854
-
-
Mager, D.L.1
Goodchild, N.L.2
-
29
-
-
0035808351
-
Structural rearrangements and insertions of dispersed elements in pericentromeric α satellites occur preferably at kinkable DNA sites
-
Mashkova, T.D., Oparina, N.Y., Lacroix, M.H., Fedorova, L.I., Tumeneva, I.G., Zinovieva, O.L., and Kisselev, L.L. 2001. Structural rearrangements and insertions of dispersed elements in pericentromeric α satellites occur preferably at kinkable DNA sites. J. Mol. Biol. 305: 33-48.
-
(2001)
J. Mol. Biol.
, vol.305
, pp. 33-48
-
-
Mashkova, T.D.1
Oparina, N.Y.2
Lacroix, M.H.3
Fedorova, L.I.4
Tumeneva, I.G.5
Zinovieva, O.L.6
Kisselev, L.L.7
-
30
-
-
0027413939
-
Localization of a γ-glutamyl-transferase-related gene family on chromosome 22
-
Morris, C., Courtay, C., Geurts van Kessel, A., ten Hoeve, J., Heisterkamp, N., and Groffen, J. 1993. Localization of a γ-glutamyl-transferase-related gene family on chromosome 22. Hum. Genet. 91: 31-36.
-
(1993)
Hum. Genet.
, vol.91
, pp. 31-36
-
-
Morris, C.1
Courtay, C.2
Geurts van Kessel, A.3
ten Hoeve, J.4
Heisterkamp, N.5
Groffen, J.6
-
31
-
-
0036088127
-
HERVd: Database of human endogenous retroviruses
-
Paces, J., Pavlicek, A., and Paces, V. 2002. HERVd: Database of human endogenous retroviruses. Nucleic Acids Res. 30: 205-206.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 205-206
-
-
Paces, J.1
Pavlicek, A.2
Paces, V.3
-
32
-
-
0029592804
-
Miropeats: Graphical DNA sequence comparisons
-
Parsons, J.D. 1995. Miropeats: Graphical DNA sequence comparisons. Comput. Appl. Biosci. 11: 615-619.
-
(1995)
Comput. Appl. Biosci.
, vol.11
, pp. 615-619
-
-
Parsons, J.D.1
-
33
-
-
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
-
34
-
-
0011822580
-
Cloning and nucleotide sequence of human γ-glutamyl transpeptidase
-
Rajpert-De Meyts, E., Heisterkamp, N., and Groffen, J. 1988, Cloning and nucleotide sequence of human γ-glutamyl transpeptidase. Proc. Natl. Acad. Sci. 85: 8840-8844.
-
(1988)
Proc. Natl. Acad. Sci.
, vol.85
, pp. 8840-8844
-
-
Rajpert-De Meyts, E.1
Heisterkamp, N.2
Groffen, J.3
-
35
-
-
0032535036
-
Double-strand break repair by interchromosomal recombination: Suppression of chromosomal translocations
-
Richardson, C., Moynahan, M.E., and Jasin M. 1998. Double-strand break repair by interchromosomal recombination: Suppression of chromosomal translocations. Genes & Dev. 12: 3831-3842.
-
(1998)
Genes & Dev.
, vol.12
, pp. 3831-3842
-
-
Richardson, C.1
Moynahan, M.E.2
Jasin, M.3
-
36
-
-
0021742268
-
The minimum amount of homology required for homologous recombination in mammalian cells
-
Rubnitz, J. and Subramani, S. 1984. The minimum amount of homology required for homologous recombination in mammalian cells. Mol. Cell. Biol. 4: 2253-2258.
-
(1984)
Mol. Cell. Biol.
, vol.4
, pp. 2253-2258
-
-
Rubnitz, J.1
Subramani, S.2
-
37
-
-
0034176887
-
Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (USP18)
-
Schwer, H., Liu, L.Q., Zhou, L., Little, M.T., Pan, Z., Hetherington, C.J., and Zhang, D.E. 2000. Cloning and characterization of a novel human ubiquitin-specific protease, a homologue of murine UBP43 (USP18). Genomics 65: 44-52.
-
(2000)
Genomics
, vol.65
, pp. 44-52
-
-
Schwer, H.1
Liu, L.Q.2
Zhou, L.3
Little, M.T.4
Pan, Z.5
Hetherington, C.J.6
Zhang, D.E.7
-
38
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
-
Shaffer, L.G., Kennedy, G.M., Spikes, A.S., and Lupski, J.R. 1997. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 69: 325-331.
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spikes, A.S.3
Lupski, J.R.4
-
39
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
-
Shaikh, T.H., Kurahashi, H., Saitta, S.C., O'Hare, A.M., Hu, P., Roe, B.A., Driscoll, D.A., McDonald-McGinn, D.M., Zackai, E.H., Budarf, M.L., et al. 2000. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9: 489-501.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 489-501
-
-
Shaikh, T.H.1
Kurahashi, H.2
Saitta, S.C.3
O'Hare, A.M.4
Hu, P.5
Roe, B.A.6
Driscoll, D.A.7
McDonald-McGinn, D.M.8
Zackai, E.H.9
Budarf, M.L.10
-
40
-
-
0028920059
-
Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences
-
Smit, A.F., Toth, G., Riggs, A.D., and Jurka, J. 1995. Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences. J. Mol. Biol. 246: 401-417.
-
(1995)
J. Mol. Biol.
, vol.246
, pp. 401-417
-
-
Smit, A.F.1
Toth, G.2
Riggs, A.D.3
Jurka, J.4
-
41
-
-
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
-
42
-
-
0032964297
-
BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences
-
Tatusova, T.A. and Madden, T.L. 1999. BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol. Lett. 174: 247-250.
-
(1999)
FEMS Microbiol. Lett.
, vol.174
, pp. 247-250
-
-
Tatusova, T.A.1
Madden, T.L.2
-
43
-
-
0021109069
-
The L1Md long interspersed repeat family in the mouse: Almost all examples are truncated at one end
-
Voliva, C.F., Jahn, C.L., Comer, M.B., Hutchison III, C.A., and Edgell, M.H. 1983. The L1Md long interspersed repeat family in the mouse: Almost all examples are truncated at one end. Nucleic Acids Res. 11:8847-8859.
-
(1983)
Nucleic Acids Res.
, vol.11
, pp. 8847-8859
-
-
Voliva, C.F.1
Jahn, C.L.2
Comer, M.B.3
Hutchison III, C.A.4
Edgell, M.H.5
-
44
-
-
0023684936
-
Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology
-
Waldman, A.S. and Liskay, R.M. 1988. Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology. Mol. Cell. Biol. 8: 5350-5357.
-
(1988)
Mol. Cell. Biol.
, vol.8
, pp. 5350-5357
-
-
Waldman, A.S.1
Liskay, R.M.2
-
45
-
-
0019135082
-
Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction
-
Zackai, E.H. and Emanuel, B.S. 1980. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am. J. Med. Genet. 7: 507-521.
-
(1980)
Am. J. Med. Genet.
, vol.7
, pp. 507-521
-
-
Zackai, E.H.1
Emanuel, B.S.2
|