-
1
-
-
0033651946
-
Prader-Willi and Angelman syndromes: Sister imprinted disorders
-
Cassidy SB, Dykens E, Williams CA. Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 2000;97:136-46.
-
(2000)
Am J Med Genet
, vol.97
, pp. 136-146
-
-
Cassidy, S.B.1
Dykens, E.2
Williams, C.A.3
-
2
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001;2:153-75.
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
3
-
-
0031767480
-
Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q
-
Barber K, Cross IE, Douglas F, Nicholson JC, Moore KJ, Browne CE. Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q. Hum Genet 1998;103:600-7.
-
(1998)
Hum Genet
, vol.103
, pp. 600-607
-
-
Barber, K.1
Cross, I.E.2
Douglas, F.3
Nicholson, J.C.4
Moore, K.J.5
Browne, C.E.6
-
4
-
-
18844468257
-
Partial hexasomy 15pter→15q13 including SNRPN and D15S10: First molecular cytogenetically proven case report
-
Nietzel A, Albrecht B, Starke H, Heller A, Gillessen-Kaesbach G, Claussen U, Liehr T. Partial hexasomy 15pter→15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report. J Med Genet 2003;40:e28.
-
(2003)
J Med Genet
, vol.40
-
-
Nietzel, A.1
Albrecht, B.2
Starke, H.3
Heller, A.4
Gillessen-Kaesbach, G.5
Claussen, U.6
Liehr, T.7
-
5
-
-
0033361765
-
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
Amos-Landgrat JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 1999;65:370-86.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 370-386
-
-
Amos-Landgrat, J.M.1
Ji, Y.2
Gottlieb, W.3
Depinet, T.4
Wandstrat, A.E.5
Cassidy, S.B.6
Driscoll, D.J.7
Rogan, P.K.8
Schwartz, S.9
Nicholls, R.D.10
-
6
-
-
0034831138
-
Segmental duplications: Organization and impact within the current human genome project assembly
-
Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res 2001;11:1005-17.
-
(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
-
7
-
-
0036138187
-
Human-specific duplication and mosaic transcripts: The recent poralogous structure of chromosome 22
-
Bailey JA, Yavor AM, Viggiano L, Misceo D, Horvath JE, Archidiacono N, Schwartz S, Rocchi M, Eichler EE. Human-specific duplication and mosaic transcripts: the recent poralogous structure of chromosome 22. Am J Hum Genet 2002;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
-
8
-
-
0034028921
-
Structure of chromosomal duplicons and their role in mediating human genomic disorders
-
Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000;10:597-610.
-
(2000)
Genome Res
, vol.10
, pp. 597-610
-
-
Ji, Y.1
Eichler, E.E.2
Schwartz, S.3
Nicholls, R.D.4
-
9
-
-
0036591666
-
Molecular-evolutionary mechanisms for genomic disorders
-
Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 2002;12:312-19.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 312-319
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
10
-
-
0035179871
-
Assembly of microarrays for genome-wide measurement of DNA copy number
-
Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001;29:263-4.
-
(2001)
Nat Genet
, vol.29
, pp. 263-264
-
-
Snijders, A.M.1
Nowak, N.2
Segraves, R.3
Blackwood, S.4
Brown, N.5
Conroy, J.6
Hamilton, G.7
Hindle, A.K.8
Huey, B.9
Kimura, K.10
-
11
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers SW, Li PW, Eichler EE. Recent segmental duplications in the human genome. Science 2002;297:1003-7.
-
(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, S.W.8
Li, P.W.9
Eichler, E.E.10
-
12
-
-
0034018260
-
Molecular structure and evolution of an alpha/non-alpha satellite junction at 16p11
-
Horvath J, Viggiano L, Loftus B, Adams M, Rocchi M, Eichler E. Molecular structure and evolution of an alpha/non-alpha satellite junction at 16p11. Hum Mol Genet 2000;9:113-23.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 113-123
-
-
Horvath, J.1
Viggiano, L.2
Loftus, B.3
Adams, M.4
Rocchi, M.5
Eichler, E.6
-
13
-
-
0029592804
-
Miropeats: Graphical DNA sequence comparisons
-
Parsons J. Miropeats: graphical DNA sequence comparisons. Comput Appl Biosci 1995;11:615-19.
-
(1995)
Comput Appl Biosci
, vol.11
, pp. 615-619
-
-
Parsons, J.1
-
14
-
-
0037351987
-
Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization
-
Locke DP, Segraves R, Carbone L, Archidiacono N, Albertson DG, Pinkel D, Eichler EE. Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization. Genome Res 2003;13:347-57.
-
(2003)
Genome Res
, vol.13
, pp. 347-357
-
-
Locke, D.P.1
Segraves, R.2
Carbone, L.3
Archidiacono, N.4
Albertson, D.G.5
Pinkel, D.6
Eichler, E.E.7
-
15
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20:207-11.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
-
16
-
-
0036180003
-
Fully automatic quantification of microarray image data
-
Jain AN, Tokuyasu TA, Snijders AM, Segraves R, Albertson DG, Pinkel D. Fully automatic quantification of microarray image data. Genome Res 2002;12:325-32.
-
(2002)
Genome Res
, vol.12
, pp. 325-332
-
-
Jain, A.N.1
Tokuyasu, T.A.2
Snijders, A.M.3
Segraves, R.4
Albertson, D.G.5
Pinkel, D.6
-
17
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
18
-
-
0032971379
-
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
-
Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH: Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 1999;8:1025-37.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1025-1037
-
-
Christian, S.L.1
Fantes, J.A.2
Mewborn, S.K.3
Huang, B.4
Ledbetter, D.H.5
-
19
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11-q13
-
Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 1998;35:130-6.
-
(1998)
J Med Genet
, vol.35
, pp. 130-136
-
-
Robinson, W.P.1
Dutly, F.2
Nicholls, R.D.3
Bernasconi, F.4
Penaherrera, M.5
Michaelis, R.C.6
Abeliovich, D.7
Schinzel, A.A.8
-
20
-
-
0030761243
-
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
-
Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am J Hum Genet 1997;61:388-94.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 388-394
-
-
Conroy, J.M.1
Grebe, T.A.2
Becker, L.A.3
Tsuchiya, K.4
Nicholls, R.D.5
Buiting, K.6
Horsthemke, B.7
Cassidy, S.B.8
Schwartz, S.9
-
21
-
-
0642344260
-
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster
-
Locke DP, Archidiacono N, Misceo D, Cardone MF, Deschamps S, Roe B, Rocchi M, Eichler EE. Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster. Genome Biol 2003;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
-
22
-
-
85047695990
-
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
-
Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M, Estivill X. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet 2002;10:26-35.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 26-35
-
-
Pujana, M.A.1
Nadal, M.2
Guitart, M.3
Armengol, L.4
Gratacos, M.5
Estivill, X.6
-
23
-
-
0034650292
-
Measurement of locus copy number by hybridisation with amplifiable probes
-
Armour JA, Sismani C, Patsalis PC, Cross G. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 2000;28:605-9.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 605-609
-
-
Armour, J.A.1
Sismani, C.2
Patsalis, P.C.3
Cross, G.4
-
24
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
25
-
-
0036827032
-
High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)
-
Hollox EJ, Atia T, Cross G, Parkin T, Armour JA. High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH). J Med Genet 2002;39:790-5.
-
(2002)
J Med Genet
, vol.39
, pp. 790-795
-
-
Hollox, E.J.1
Atia, T.2
Cross, G.3
Parkin, T.4
Armour, J.A.5
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