-
1
-
-
19944418773
-
Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA
-
Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, et al: Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 101: 17765-17770 (2004).
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 17765-17770
-
-
Barrett, M.T.1
Scheffer, A.2
Ben-Dor, A.3
Sampas, N.4
Lipson, D.5
-
2
-
-
2942709617
-
Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion
-
Baumer A, Riegel M, Schinzel A: Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. J Med Genet 41:413-420 (2004).
-
(2004)
J Med Genet
, vol.41
, pp. 413-420
-
-
Baumer, A.1
Riegel, M.2
Schinzel, A.3
-
3
-
-
38749129175
-
22q11.2 distal deletion: A recurrent genomic disorder distinct from Di-George syndrome and velocardiofacial syndrome
-
Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, et al: 22q11.2 distal deletion: a recurrent genomic disorder distinct from Di-George syndrome and velocardiofacial syndrome. Am J Hum Genet 82: 214-221 (2008).
-
(2008)
Am J Hum Genet
, vol.82
, pp. 214-221
-
-
Ben-Shachar, S.1
Ou, Z.2
Shaw, C.A.3
Belmont, J.W.4
Patel, M.S.5
-
4
-
-
41849099288
-
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome
-
Butler MG, Fischer W, Kibiryeva N, Bittel DC: Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A 146A:854-860 (2008).
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 854-860
-
-
Butler, M.G.1
Fischer, W.2
Kibiryeva, N.3
Bittel, D.C.4
-
5
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, et al: Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61: 620-629(1997).
-
(1997)
Am J Hum Genet
, vol.61
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
Goldberg, R.4
McKie, J.5
-
6
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK: A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38: 75-81 (2006).
-
(2006)
Nat Genet
, vol.38
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
7
-
-
0035107772
-
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus
-
Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, et al: Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res 11: 208-217 (2001).
-
(2001)
Genome Res
, vol.11
, pp. 208-217
-
-
Edelmann, L.1
Stankiewicz, P.2
Spiteri, E.3
Pandita, R.K.4
Shaffer, L.5
-
8
-
-
33751349817
-
Accurate and reliable highthroughput detection of copy number variation in the human genome
-
Fiegler H, Redon R, Andrews D, Scott C, Andrews R, et al: Accurate and reliable highthroughput detection of copy number variation in the human genome. Genome Res 16:1566-1574 (2006).
-
(2006)
Genome Res
, vol.16
, pp. 1566-1574
-
-
Fiegler, H.1
Redon, R.2
Andrews, D.3
Scott, C.4
Andrews, R.5
-
9
-
-
9744258806
-
The molecular genetics of the 22q11-associated schizophrenia
-
Karayiorgou M, Gogos JA: The molecular genetics of the 22q11-associated schizophrenia. Brain Res Mol Brain Res 132: 95-104 (2004).
-
(2004)
Brain Res Mol Brain Res
, vol.132
, pp. 95-104
-
-
Karayiorgou, M.1
Gogos, J.A.2
-
10
-
-
85056925165
-
Velo-Cardio-Facial syndrome
-
Butler MG, Meaney FJ eds, Taylor and Francis group, Boca Raton
-
Kates WR, Antshel KM, Fremont W, Roizan N, Shprintzen R: Velo-Cardio-Facial syndrome, in Butler MG, Meaney FJ (eds): Genetics of Developmental Disabilities, pp 383-418 (Taylor and Francis group, Boca Raton 2005).
-
(2005)
Genetics of Developmental Disabilities
, pp. 383-418
-
-
Kates, W.R.1
Antshel, K.M.2
Fremont, W.3
Roizan, N.4
Shprintzen, R.5
-
11
-
-
33751340401
-
Genome assembly comparison identifies structural variants in the human genome
-
Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, et al: Genome assembly comparison identifies structural variants in the human genome. Nat Genet 38: 1413-1418(2006).
-
(2006)
Nat Genet
, vol.38
, pp. 1413-1418
-
-
Khaja, R.1
Zhang, J.2
MacDonald, J.R.3
He, Y.4
Joseph-George, A.M.5
-
12
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
Kobrynski LJ, Sullivan KE: Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370: 1443-1452 (2007).
-
(2007)
Lancet
, vol.370
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
13
-
-
33751345434
-
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
-
Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, et al: Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 16: 1575-1584 (2006).
-
(2006)
Genome Res
, vol.16
, pp. 1575-1584
-
-
Komura, D.1
Shen, F.2
Ishikawa, S.3
Fitch, K.R.4
Chen, W.5
-
14
-
-
1442280674
-
DNA copy-number analysis of the 22q11 deletionsyndrome region using array-CGH with genomic and PCR-based targets
-
Mantripragada KK, Tapia-Paez I, Blennow E, Nilsson P, Wedell A, Dumanski JP: DNA copy-number analysis of the 22q11 deletionsyndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 13: 273-279 (2004).
-
(2004)
Int J Mol Med
, vol.13
, pp. 273-279
-
-
Mantripragada, K.K.1
Tapia-Paez, I.2
Blennow, E.3
Nilsson, P.4
Wedell, A.5
Dumanski, J.P.6
-
15
-
-
0032882849
-
High rates of schizophrenia in adults with velo-cardiofacial syndrome
-
Murphy KC, Jones LA, Owen MJ: High rates of schizophrenia in adults with velo-cardiofacial syndrome. Arch Gen Psychiatry 56:947-945 (1999).
-
(1999)
Arch Gen Psychiatry
, vol.56
, pp. 947-945
-
-
Murphy, K.C.1
Jones, L.A.2
Owen, M.J.3
-
16
-
-
33645829845
-
Determination of genomic copy number with quantitative microsphere hybridization
-
Newkirk HL, Rogan PK, Miralles M, Knoll JH: Determination of genomic copy number with quantitative microsphere hybridization. Hum Mutat 27: 376-386 (2006).
-
(2006)
Hum Mutat
, vol.27
, pp. 376-386
-
-
Newkirk, H.L.1
Rogan, P.K.2
Miralles, M.3
Knoll, J.H.4
-
17
-
-
34147203757
-
A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: Implications for clinical evaluation and treatment
-
Ousley O, Rockers K, Dell ML, Coleman K, Cubells JF: A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment. Curr Psychiatry Rep 9: 148-158 (2007).
-
(2007)
Curr Psychiatry Rep
, vol.9
, pp. 148-158
-
-
Ousley, O.1
Rockers, K.2
Dell, M.L.3
Coleman, K.4
Cubells, J.F.5
-
18
-
-
27644478443
-
Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice
-
Paterlini M, Zakharenko SS, Lai WS, Qin J, Zhang H, et al: Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat Neurosci 8: 1586-1594(2005).
-
(2005)
Nat Neurosci
, vol.8
, pp. 1586-1594
-
-
Paterlini, M.1
Zakharenko, S.S.2
Lai, W.S.3
Qin, J.4
Zhang, H.5
-
19
-
-
33744455443
-
Hotspots for copy number variation in chimpanzees and humans
-
Perry GH, Tchinda J, McGrath SD, Zhang J, Picker SR, et al: Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci USA 103: 8006-8011 (2006).
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 8006-8011
-
-
Perry, G.H.1
Tchinda, J.2
McGrath, S.D.3
Zhang, J.4
Picker, S.R.5
-
20
-
-
44149113011
-
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
-
Prasad SE, Howley S, Murphy KC: Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14: 26-34 (2008).
-
(2008)
Dev Disabil Res Rev
, vol.14
, pp. 26-34
-
-
Prasad, S.E.1
Howley, S.2
Murphy, K.C.3
-
21
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al: Global variation in copy number in the human genome. Nature 444: 444-454(2006).
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
22
-
-
34347348166
-
Challenges and standards in integrating surveys of structural variation
-
Scherer SW, Lee C, Birney E, Altshuler DA, Eichler EE, et al: Challenges and standards in integrating surveys of structural variation. Nat Genet Suppl 39:S7-S15 (2007).
-
(2007)
Nat Genet
, Issue.SUPPL. 39
-
-
Scherer, S.W.1
Lee, C.2
Birney, E.3
Altshuler, D.A.4
Eichler, E.E.5
-
23
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al: Large-scale copy number polymorphism in the human genome. Science 305:525-528 (2004).
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
24
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al: Strong association of de novo copy number mutations with autism. Science 316: 445-449 (2007).
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
-
25
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
-
Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, et al: 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).
-
(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
-
26
-
-
34147124382
-
Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms
-
Shaikh TH, O'Connor RJ, Pierpont ME, Mc-Grath J, Hacker AM, et al: Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res 17: 482-491(2007).
-
(2007)
Genome Res
, vol.17
, pp. 482-491
-
-
Shaikh, T.H.1
O'Connor, R.J.2
Pierpont, M.E.3
Mc-Grath, J.4
Hacker, A.M.5
-
27
-
-
44149115417
-
Velo-cardio-facial syndrome: 30 years of study
-
Shprintzen RJ: Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14: 3-10(2008).
-
(2008)
Dev Disabil Res Rev
, vol.14
, pp. 3-10
-
-
Shprintzen, R.J.1
-
28
-
-
43949124669
-
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
-
Stark KL, Xu B, Bagchi A, Lai WS, Liu H, et al: Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat Genet 40: 751-760 (2008).
-
(2008)
Nat Genet
, vol.40
, pp. 751-760
-
-
Stark, K.L.1
Xu, B.2
Bagchi, A.3
Lai, W.S.4
Liu, H.5
-
29
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, et al: Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315: 848-853 (2007).
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
-
30
-
-
33645243394
-
High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays
-
Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, et al: High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci USA 103:4534-4539 (2006).
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 4534-4539
-
-
Urban, A.E.1
Korbel, J.O.2
Selzer, R.3
Richmond, T.4
Hacker, A.5
-
32
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M: Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40: 880-885(2008).
-
(2008)
Nat Genet
, vol.40
, pp. 880-885
-
-
Xu, B.1
Roos, J.L.2
Levy, S.3
van Rensburg, E.J.4
Gogos, J.A.5
Karayiorgou, M.6
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