-
1
-
-
0034513406
-
Molecular mechanisms for constitutional chromosomal rearrangements in humans
-
Shaffer LG, Lupski JR (2000) Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34: 297-329.
-
(2000)
Annu Rev Genet
, vol.34
, pp. 297-329
-
-
Shaffer, L.G.1
Lupski, J.R.2
-
2
-
-
0025729359
-
Fluorescence in situ hybridization: Applications in cytogenetics and gene mapping
-
Trask BJ (1991) Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 7: 149-154.
-
(1991)
Trends Genet
, vol.7
, pp. 149-154
-
-
Trask, B.J.1
-
3
-
-
18744421982
-
Chromosomal and gene amplification in diffuse large B-cell lymphoma
-
Rao PH, Houldsworth J, Dyomina K, Parsa NZ, Cigudosa JC, et al. (1998) Chromosomal and gene amplification in diffuse large B-cell lymphoma. Blood 92: 234-240.
-
(1998)
Blood
, vol.92
, pp. 234-240
-
-
Rao, P.H.1
Houldsworth, J.2
Dyomina, K.3
Parsa, N.Z.4
Cigudosa, J.C.5
-
4
-
-
0029912473
-
Karyotyping human chromosomes by combinatorial multi-fluor FISH
-
Speicher MR, Gwyn BS, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12: 368-375.
-
(1996)
Nat Genet
, vol.12
, pp. 368-375
-
-
Speicher, M.R.1
Gwyn, B.S.2
Ward, D.C.3
-
5
-
-
0036848181
-
The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia
-
Lu XY, Harris CP, Cooley L, Margolin J, Steuber PC, et al. (2002) The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia. Leukemia 16: 2222-2227.
-
(2002)
Leukemia
, vol.16
, pp. 2222-2227
-
-
Lu, X.Y.1
Harris, C.P.2
Cooley, L.3
Margolin, J.4
Steuber, P.C.5
-
6
-
-
0037358306
-
Comprehensive molecular cytogenetic characterization of cervical cancer cell lines
-
Harris CP, Lu XY, Narayan G, Singh B, Murty VV, et al. (2003) Comprehensive molecular cytogenetic characterization of cervical cancer cell lines. Genes Chromosomes Cancer 36: 233-241.
-
(2003)
Genes Chromosomes Cancer
, vol.36
, pp. 233-241
-
-
Harris, C.P.1
Lu, X.Y.2
Narayan, G.3
Singh, B.4
Murty, V.V.5
-
7
-
-
0345714858
-
Frequent amplification and rearrangement of chromosomal bands 6p12-p21 and 17p11.2 in osteosarcoma
-
Lau CC, Harris CP, Lu XY, Perlaky L, Gogineni S, et al. (2004) Frequent amplification and rearrangement of chromosomal bands 6p12-p21 and 17p11.2 in osteosarcoma. Genes Chromosomes Cancer 39: 11-21.
-
(2004)
Genes Chromosomes Cancer
, vol.39
, pp. 11-21
-
-
Lau, C.C.1
Harris, C.P.2
Lu, X.Y.3
Perlaky, L.4
Gogineni, S.5
-
8
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, et al. (2006) Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43: 478-489.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
-
10
-
-
20044362567
-
Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
-
Vermeesch JR, Melotte C, Froyen G, Van VS, Dutta B, et al. (2005) Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 53: 413-422.
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 413-422
-
-
Vermeesch, J.R.1
Melotte, C.2
Froyen, G.3
Van, V.S.4
Dutta, B.5
-
11
-
-
25844490588
-
The new cytogenetics: Blurring the boundaries with molecular biology
-
Speicher MR, Carter NP (2005) The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 6: 782-792.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 782-792
-
-
Speicher, M.R.1
Carter, N.P.2
-
12
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, 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
-
13
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, et al. (2004) Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41: 241-248.
-
(2004)
J Med Genet
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
-
14
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports
-
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, et al. (2006) Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 43: 625-633.
-
(2006)
J Med Genet
, vol.43
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
-
15
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, et al. (2004) A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36: 299-303.
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
DeLeeuw, R.J.4
Chi, B.5
-
16
-
-
10744221541
-
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
-
Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, 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
-
17
-
-
1242269840
-
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
-
Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, et al. (2004) Comparative genomic hybridisation 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
-
18
-
-
27244450998
-
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
-
Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, et al. (2005) Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet 13: 1019-1024.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1019-1024
-
-
Koolen, D.A.1
Reardon, W.2
Rosser, E.M.3
Lacombe, D.4
Hurst, J.A.5
-
20
-
-
17644397384
-
Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
-
Dhami P, Coffey AJ, Abbs S, Vermeesch JR, Dumanski JP, et al. (2005) Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 76: 750-762.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 750-762
-
-
Dhami, P.1
Coffey, A.J.2
Abbs, S.3
Vermeesch, J.R.4
Dumanski, J.P.5
-
21
-
-
28544444942
-
Methylation-associated silencing of the nuclear receptor 1I2 gene in advanced-type neuroblastomas, identified by bacterial artificial chromosome array-based methylated CpG island amplification
-
Misawa A, Inoue J, Sugino Y, Hosoi H, Sugimoto T, et al. (2005) Methylation-associated silencing of the nuclear receptor 1I2 gene in advanced-type neuroblastomas, identified by bacterial artificial chromosome array-based methylated CpG island amplification. Cancer Res 65: 10233-10242.
-
(2005)
Cancer Res
, vol.65
, pp. 10233-10242
-
-
Misawa, A.1
Inoue, J.2
Sugino, Y.3
Hosoi, H.4
Sugimoto, T.5
-
22
-
-
16344393207
-
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
-
Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, et al. (2005) Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 134: 259-267.
-
(2005)
Am J Med Genet A
, vol.134
, pp. 259-267
-
-
Bejjani, B.A.1
Saleki, R.2
Ballif, B.C.3
Rorem, E.A.4
Sundin, K.5
-
23
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, et al. (2005) Diagnostic genome profiling in mental retardation. Am J Hum Genet 77: 606-616.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
de Vries, B.B.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.5
-
24
-
-
23744491866
-
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
-
Cheung SW, Shaw CA, Yu W, Li J, Ou Z, et al. (2005) Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 7: 422-432.
-
(2005)
Genet Med
, vol.7
, pp. 422-432
-
-
Cheung, S.W.1
Shaw, C.A.2
Yu, W.3
Li, J.4
Ou, Z.5
-
25
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, et al. (2006) Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149: 98-102.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
-
26
-
-
31544442165
-
Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization
-
Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR (2005) Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn 25: 1188-1191.
-
(2005)
Prenat Diagn
, vol.25
, pp. 1188-1191
-
-
Lee, J.A.1
Cheung, S.W.2
Ward, P.A.3
Inoue, K.4
Lupski, J.R.5
-
28
-
-
33645778232
-
Prenatal detection of unbalanced chromosomal rearrangements by array CGH
-
Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, et al. (2006) Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 43: 353-361.
-
(2006)
J Med Genet
, vol.43
, pp. 353-361
-
-
Rickman, L.1
Fiegler, H.2
Shaw-Smith, C.3
Nash, R.4
Cirigliano, V.5
-
29
-
-
33646771662
-
Prenatal diagnosis of de novo interstitial 2q14.2-2q21.3 deletion assisted by array-based comparative genomic hybridization: A case report
-
Peng HH, Wang CJ, Wang TH, Chang SD (2006) Prenatal diagnosis of de novo interstitial 2q14.2-2q21.3 deletion assisted by array-based comparative genomic hybridization: a case report. J Reprod Med 51: 438-442.
-
(2006)
J Reprod Med
, vol.51
, pp. 438-442
-
-
Peng, H.H.1
Wang, C.J.2
Wang, T.H.3
Chang, S.D.4
-
30
-
-
33744979546
-
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
-
Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura K, et al. (2006) Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid. J Hum Genet 51: 412-417.
-
(2006)
J Hum Genet
, vol.51
, pp. 412-417
-
-
Miura, S.1
Miura, K.2
Masuzaki, H.3
Miyake, N.4
Yoshiura, K.5
-
31
-
-
33751172713
-
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
-
Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, et al. (2006) Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 8: 719-727.
-
(2006)
Genet Med
, vol.8
, pp. 719-727
-
-
Sahoo, T.1
Cheung, S.W.2
Ward, P.3
Darilek, S.4
Patel, A.5
-
32
-
-
84891418470
-
-
Lupski JR, Stankiewicz P, eds , Totowa, NJ: Human Press. 427 p
-
Lupski JR, Stankiewicz P, eds (2006) Genomic Disorders-The Genomic Basis of Disease. Totowa, NJ: Human Press. 427 p.
-
(2006)
Genomic Disorders-The Genomic Basis of Disease
-
-
-
33
-
-
28444466985
-
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
-
Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, et al. (2005) Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 139: 173-185.
-
(2005)
Am J Med Genet A
, vol.139
, pp. 173-185
-
-
Tyson, C.1
Harvard, C.2
Locker, R.3
Friedman, J.M.4
Langlois, S.5
-
34
-
-
34547697696
-
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
-
in press
-
Cheung SW, Shaw C, Scott DA, Patel A, Sahoo T, et al. (2007) Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet (in press).
-
(2007)
Am J Med Genet
-
-
Cheung, S.W.1
Shaw, C.2
Scott, D.A.3
Patel, A.4
Sahoo, T.5
-
35
-
-
33748286797
-
Genome structural variation and sporadic disease traits
-
Lupski JR (2006) Genome structural variation and sporadic disease traits. Nat Genet 38: 974-976.
-
(2006)
Nat Genet
, vol.38
, pp. 974-976
-
-
Lupski, J.R.1
-
36
-
-
33749081269
-
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
-
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, et al. (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 8: 784-792.
-
(2006)
Genet Med
, vol.8
, pp. 784-792
-
-
del Gaudio, D.1
Fang, P.2
Scaglia, F.3
Ward, P.A.4
Craigen, W.J.5
-
37
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
-
38
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36: 949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
-
39
-
-
34147120769
-
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment
-
in press
-
Lennon PA, Cooper ML, Peiffer D, Gunderson K, Patel A, et al. (2007) Deletion of 7q31.1 supports involvement of FOXP2 in language impairment. Am J Med Gene (in press).
-
(2007)
Am J Med Gene
-
-
Lennon, P.A.1
Cooper, M.L.2
Peiffer, D.3
Gunderson, K.4
Patel, A.5
-
40
-
-
0036467131
-
The end of the beginning of chromosome ends
-
Biesecker LG (2002) The end of the beginning of chromosome ends. Am J Med Genet 107: 263-266.
-
(2002)
Am J Med Genet
, vol.107
, pp. 263-266
-
-
Biesecker, L.G.1
-
41
-
-
23344450320
-
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features
-
Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, et al. (2005) Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am J Med Genet A 137: 88-93.
-
(2005)
Am J Med Genet A
, vol.137
, pp. 88-93
-
-
Hwang, K.S.1
Pearson, M.A.2
Stankiewicz, P.3
Lennon, P.A.4
Cooper, M.L.5
-
42
-
-
11844302200
-
Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases
-
Le CC, De MP, Vincent MC, Boceno M, Bourrouillou G, et al. (2005) Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. Am J Med Genet A 132: 175-180.
-
(2005)
Am J Med Genet A
, vol.132
, pp. 175-180
-
-
Le CC, D.M.1
Vincent, M.C.2
Boceno, M.3
Bourrouillou, G.4
-
43
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, 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
-
44
-
-
0031892597
-
Charcot-Marie-Tooth disease: Lessons in genetic mechanisms
-
Lupski JR (1998) Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med 4: 3-11.
-
(1998)
Mol Med
, vol.4
, pp. 3-11
-
-
Lupski, J.R.1
-
45
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR (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
-
46
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
-
Shaffer LG, Kennedy GM, Spikes AS, Lupski JR (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
-
47
-
-
34147169956
-
-
Potocki L, Bi W, Treadwell-Deering D, Carvalho cMB, EifertAnna, et al. (2007) Characterization of the Potocki-Lupski syndrome [dup(17)(p11.2p11.2)] and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (in press).
-
Potocki L, Bi W, Treadwell-Deering D, Carvalho cMB, EifertAnna, et al. (2007) Characterization of the Potocki-Lupski syndrome [dup(17)(p11.2p11.2)] and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (in press).
-
-
-
-
49
-
-
27544490144
-
Reciprocal translocations: A trap for cytogenetists?
-
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, et al. (2005) Reciprocal translocations: a trap for cytogenetists? Hum Genet 117: 571-582.
-
(2005)
Hum Genet
, vol.117
, pp. 571-582
-
-
Ciccone, R.1
Giorda, R.2
Gregato, G.3
Guerrini, R.4
Giglio, S.5
-
50
-
-
17144375306
-
Array CGH detection of a cryptic deletion in a complex chromosome rearrangement
-
Rosenberg C, Knijnenburg J, Chauffaille ML, Brunoni D, Catelani AL, et al. (2005) Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Hum Genet 116: 390-394.
-
(2005)
Hum Genet
, vol.116
, pp. 390-394
-
-
Rosenberg, C.1
Knijnenburg, J.2
Chauffaille, M.L.3
Brunoni, D.4
Catelani, A.L.5
-
51
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, et al. (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42: 8-16.
-
(2005)
J Med Genet
, vol.42
, pp. 8-16
-
-
Gribble, S.M.1
Prigmore, E.2
Burford, D.C.3
Porter, K.M.4
Ng, B.L.5
-
52
-
-
10744224218
-
Applications of combined DNA microarray and chromosome sorting technologies
-
Gribble SM, Fiegler H, Burford DC, Prigmore E, Yang F, et al. (2004) Applications of combined DNA microarray and chromosome sorting technologies. Chromosome Res 12: 35-43.
-
(2004)
Chromosome Res
, vol.12
, pp. 35-43
-
-
Gribble, S.M.1
Fiegler, H.2
Burford, D.C.3
Prigmore, E.4
Yang, F.5
-
53
-
-
33644559698
-
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement
-
Fauth C, Gribble SM, Porter KM, Codina-Pascual M, Ng BL, et al. (2006) Micro-array analyses decipher exceptional complex familial chromosomal rearrangement. Hum Genet 119: 145-153.
-
(2006)
Hum Genet
, vol.119
, pp. 145-153
-
-
Fauth, C.1
Gribble, S.M.2
Porter, K.M.3
Codina-Pascual, M.4
Ng, B.L.5
-
54
-
-
26444466177
-
Design considerations for array CGH to oligonucleotide arrays
-
Baldocchi RA, Glynne RJ, Chin K, Kowbel D, Collins C, et al. (2005) Design considerations for array CGH to oligonucleotide arrays. Cytometry A 67: 129-136.
-
(2005)
Cytometry A
, vol.67
, pp. 129-136
-
-
Baldocchi, R.A.1
Glynne, R.J.2
Chin, K.3
Kowbel, D.4
Collins, C.5
-
55
-
-
33746791626
-
Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies
-
Schulz R, Menheniott TR, Woodfine K, Wood AJ, Choi JD, et al. (2006) Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies. Nucleic Acids Res 34: e88.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Schulz, R.1
Menheniott, T.R.2
Woodfine, K.3
Wood, A.J.4
Choi, J.D.5
-
56
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
57
-
-
33748644928
-
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
-
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, et al. (2006) Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79: 500-513.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 500-513
-
-
Friedman, J.M.1
Baross, A.2
Delaney, A.D.3
Ally, A.4
Arbour, L.5
-
58
-
-
33644505833
-
Identification of large-scale human-specific copy number differences by interspecies array comparative genomic hybridization
-
Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, et al. (2006) Identification of large-scale human-specific copy number differences by interspecies array comparative genomic hybridization. Hum Genet 119: 185-198.
-
(2006)
Hum Genet
, vol.119
, pp. 185-198
-
-
Goidts, V.1
Armengol, L.2
Schempp, W.3
Conroy, J.4
Nowak, N.5
-
59
-
-
32044440064
-
Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla
-
Wilson GM, Flibotte S, Missirlis PI, Marra MA, Jones S, et al. (2006) Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla. Genome Res 16: 173-181.
-
(2006)
Genome Res
, vol.16
, pp. 173-181
-
-
Wilson, G.M.1
Flibotte, S.2
Missirlis, P.I.3
Marra, M.A.4
Jones, S.5
-
60
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski JR, Stankiewicz P (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1: e49.
-
(2005)
PLoS Genet
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
61
-
-
33947220222
-
Structural Variation in the Human Genome
-
submitted
-
Lupski JR (2007) Structural Variation in the Human Genome. N Eng J Med (submitted).
-
(2007)
N Eng J Med
-
-
Lupski, J.R.1
-
62
-
-
18344379676
-
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
-
Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, Merkx G, et al. (2002) High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 70: 1269-1276.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1269-1276
-
-
Veltman, J.A.1
Schoenmakers, E.F.2
Eussen, B.H.3
Janssen, I.4
Merkx, G.5
-
63
-
-
0037018157
-
In vivo dissection of the chromosome condensation machinery: Reversibility of condensation distinguishes contributions of condensin and cohesin
-
Lavoie BD, Hogan E, Koshland D (2002) In vivo dissection of the chromosome condensation machinery: reversibility of condensation distinguishes contributions of condensin and cohesin. J Cell Biol 156: 805-815.
-
(2002)
J Cell Biol
, vol.156
, pp. 805-815
-
-
Lavoie, B.D.1
Hogan, E.2
Koshland, D.3
-
64
-
-
4644360416
-
Visualization of early chromosome condensation: A hierarchical folding, axial glue model of chromosome structure
-
Kireeva N, Lakonishok M, Kireev I, Hirano T, Belmont AS (2004) Visualization of early chromosome condensation: a hierarchical folding, axial glue model of chromosome structure. J Cell Biol 166: 775-785.
-
(2004)
J Cell Biol
, vol.166
, pp. 775-785
-
-
Kireeva, N.1
Lakonishok, M.2
Kireev, I.3
Hirano, T.4
Belmont, A.S.5
-
65
-
-
33745593972
-
Folding and organization of a contiguous chromosome region according to the gene distribution pattern in primary genomic sequence
-
Shopland LS, Lynch CR, Peterson KA, Thornton K, Kepper N, et al. (2006) Folding and organization of a contiguous chromosome region according to the gene distribution pattern in primary genomic sequence. J Cell Biol 174: 27-38.
-
(2006)
J Cell Biol
, vol.174
, pp. 27-38
-
-
Shopland, L.S.1
Lynch, C.R.2
Peterson, K.A.3
Thornton, K.4
Kepper, N.5
-
66
-
-
10744230160
-
High-resolution analysis of DNA copy number using oligonucleotide microarrays
-
Bignell GR, Huang J, Greshock J, Watt S, Butler A, et al. (2004) High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 14: 287-295.
-
(2004)
Genome Res
, vol.14
, pp. 287-295
-
-
Bignell, G.R.1
Huang, J.2
Greshock, J.3
Watt, S.4
Butler, A.5
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