-
1
-
-
0141994858
-
Genomic microarrays in human genetic disease and cancer
-
Albertson DG, Pinkel D (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12 (Spec 2): R145-152
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SPEC. 2
-
-
Albertson, D.G.1
Pinkel, D.2
-
2
-
-
0034129516
-
Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene
-
Albertson DG, Ylstra B, Segraves R, Collins C, Dairkee SH, Kowbel D, Kuo WL, Gray JW, Pinkel D (2000) Quantitative
-
(2000)
Nat Genet
, vol.25
, pp. 144-146
-
-
Albertson, D.G.1
Ylstra, B.2
Segraves, R.3
Collins, C.4
Dairkee, S.H.5
Kowbel, D.6
Kuo, W.L.7
Gray, J.W.8
Pinkel, D.9
-
3
-
-
0028947055
-
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
-
Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E (1995) Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1162-1172
-
-
Church, D.M.1
Bengtsson, U.2
Nielsen, K.V.3
Wasmuth, J.J.4
Niebuhr, E.5
-
4
-
-
0030884218
-
A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p
-
Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ (1997) A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res 7:787-801
-
(1997)
Genome Res
, vol.7
, pp. 787-801
-
-
Church, D.M.1
Yang, J.2
Bocian, M.3
Shiang, R.4
Wasmuth, J.J.5
-
5
-
-
0035500899
-
Recent duplication, domain accretion and the dynamic mutation of the human genome
-
Eichler EE (2001) Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17: 661-669
-
(2001)
Trends Genet
, vol.17
, pp. 661-669
-
-
Eichler, E.E.1
-
6
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP (2003) DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:361-374
-
(2003)
Genes Chromosomes Cancer
, vol.36
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
Burford, D.C.4
Hunt, S.5
Scott, C.E.6
Smith, J.7
Vetrie, D.8
Gorman, P.9
Tomlinson, I.P.10
Carter, N.P.11
-
7
-
-
0029028370
-
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
-
Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J (1995) Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 56: 1404-1410
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1404-1410
-
-
Gersh, M.1
Goodart, S.A.2
Pasztor, L.M.3
Harris, D.J.4
Weiss, L.5
Overhauser, J.6
-
8
-
-
0030821483
-
Development of diagnostic tools for the analysis of 5p deletions using interphase FISH
-
Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J (1997) Development of diagnostic tools for the analysis of 5p deletions using interphase FISH. Cytogenet Cell Genet 77: 246-251
-
(1997)
Cytogenet Cell Genet
, vol.77
, pp. 246-251
-
-
Gersh, M.1
Grady, D.2
Rojas, K.3
Lovett, M.4
Moyzis, R.5
Overhauser, J.6
-
9
-
-
0033976407
-
Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: Further confirmation
-
Hand JL, Michels VV, Marinello MJ, Ketterling RP, Jalal SM (2000) Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation. Prenat Diagn 20:144-148
-
(2000)
Prenat Diagn
, vol.20
, pp. 144-148
-
-
Hand, J.L.1
Michels, V.V.2
Marinello, M.J.3
Ketterling, R.P.4
Jalal, S.M.5
-
10
-
-
0029416826
-
An STS-based map of the human genome
-
Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB, Silva J, Slonim DK, Baptista R, Kruglyak L, Xu S-H, Hu X, Colbert AME, Rosenberg C, Reeve-Daly MP, Rozen S, Hui L, Wu X, Vestergaard C, Wilson KM, Bae JS, Maitra S, Ganiatsas S, Evans CA, DeAngelis MM, Ingalls KA (1995) An STS-based map of the human genome. Science 270:1945-1954
-
(1995)
Science
, vol.270
, pp. 1945-1954
-
-
Hudson, T.J.1
Stein, L.D.2
Gerety, S.S.3
Ma, J.4
Castle, A.B.5
Silva, J.6
Slonim, D.K.7
Baptista, R.8
Kruglyak, L.9
Xu, S.-H.10
Hu, X.11
Colbert, A.M.E.12
Rosenberg, C.13
Reeve-Daly, M.P.14
Rozen, S.15
Hui, L.16
Wu, X.17
Vestergaard, C.18
Wilson, K.M.19
Bae, J.S.20
Maitra, S.21
Ganiatsas, S.22
Evans, C.A.23
DeAngelis, M.M.24
Ingalls, K.A.25
more..
-
11
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (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
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
12
-
-
0036180003
-
Fully automatic quantification of microarray image data
-
Jain AN, Tokuyasu TA, Snijders AM, Segraves R, Albertson DG, Pinkel D (2002) Fully automatic quantification of microarray image data. Genome Res 12:325-332
-
(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
-
13
-
-
0034097256
-
5p14 deletion associated with microcephaly and seizures
-
Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J (2000) 5p14 deletion associated with microcephaly and seizures. J Med Genet 37:125-127
-
(2000)
J Med Genet
, vol.37
, pp. 125-127
-
-
Johnson, E.I.1
Marinescu, R.C.2
Punnett, H.H.3
Tenenholz, B.4
Overhauser, J.5
-
14
-
-
0032895250
-
Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition
-
Kjaer I, Niebuhr E (1999) Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am J Med Genet 82:6-14
-
(1999)
Am J Med Genet
, vol.82
, pp. 6-14
-
-
Kjaer, I.1
Niebuhr, E.2
-
15
-
-
0037085682
-
Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat)
-
Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB (2002) Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). Am J Med Genet 108:192-197
-
(2002)
Am J Med Genet
, vol.108
, pp. 192-197
-
-
Levy, B.1
Dunn, T.M.2
Kern, J.H.3
Hirschhorn, K.4
Kardon, N.B.5
-
16
-
-
0029656003
-
Chromosomal duplications in bacteria, fruit flies, and humans
-
Lupski JR, Roth JR, Weinstock GM (1996) Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet 58:21-27
-
(1996)
Am J Hum Genet
, vol.58
, pp. 21-27
-
-
Lupski, J.R.1
Roth, J.R.2
Weinstock, G.M.3
-
17
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD (2001) Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 38:151-158
-
(2001)
J Med Genet
, vol.38
, pp. 151-158
-
-
Mainardi, P.C.1
Perfumo, C.2
Cali, A.3
Coucourde, G.4
Pastore, G.5
Cavani, S.6
Zara, F.7
Overhauser, J.8
Pierluigi, M.9
Bricarelli, F.D.10
-
18
-
-
0344980324
-
No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome
-
Marinescu RC, Johnson EI, Dykens EM, Hodapp RM, Overhauser J (1999a) No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome. Am J Med Genet 86:66-70
-
(1999)
Am J Med Genet
, vol.86
, pp. 66-70
-
-
Marinescu, R.C.1
Johnson, E.I.2
Dykens, E.M.3
Hodapp, R.M.4
Overhauser, J.5
-
19
-
-
0032697451
-
FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome
-
Marinescu RC, Johnson EI, Grady D, Chen XN, Overhauser J (1999b) FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. Clin Genet 56:282-288
-
(1999)
Clin Genet
, vol.56
, pp. 282-288
-
-
Marinescu, R.C.1
Johnson, E.I.2
Grady, D.3
Chen, X.N.4
Overhauser, J.5
-
20
-
-
0017898839
-
Cytologic observations in 35 individuals with a 5p-karyotype
-
Niebuhr E (1978a) Cytologic observations in 35 individuals with a 5p-karyotype. Hum Genet 42:143-156
-
(1978)
Hum Genet
, vol.42
, pp. 143-156
-
-
Niebuhr, E.1
-
21
-
-
0018137411
-
The cri du chat syndrome: Epidemiology, cytogenetics, and clinical features
-
- (1978b) The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 44:227-275
-
(1978)
Hum Genet
, vol.44
, pp. 227-275
-
-
-
22
-
-
0028054658
-
Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome
-
Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ (1994) Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 3:247-252
-
(1994)
Hum Mol Genet
, vol.3
, pp. 247-252
-
-
Overhauser, J.1
Huang, X.2
Gersh, M.3
Wilson, W.4
McMahon, J.5
Bengtsson, U.6
Rojas, K.7
Meyer, M.8
Wasmuth, J.J.9
-
23
-
-
0025164586
-
Parental origin of chromosome 5 deletions in the cri-du-chat syndrome
-
Overhauser J, McMahon J, Oberlender S, Carlin ME, Niebuhr E, Wasmuth JJ, Lee-Chen J (1990) Parental origin of chromosome 5 deletions in the cri-du-chat syndrome. Am J Med Genet 37:83-86
-
(1990)
Am J Med Genet
, vol.37
, pp. 83-86
-
-
Overhauser, J.1
McMahon, J.2
Oberlender, S.3
Carlin, M.E.4
Niebuhr, E.5
Wasmuth, J.J.6
Lee-Chen, J.7
-
24
-
-
0033404187
-
An integrated physical map for the short arm of human chromosome 5
-
Peterson ET, Sutherland R, Robinson DL, Chasteen L, Gersh M, Overhauser J, Deaven LL, Moyzis RK, Grady DL (1999) An integrated physical map for the short arm of human chromosome 5. Genome Res 9:1250-1267
-
(1999)
Genome Res
, vol.9
, pp. 1250-1267
-
-
Peterson, E.T.1
Sutherland, R.2
Robinson, D.L.3
Chasteen, L.4
Gersh, M.5
Overhauser, J.6
Deaven, L.L.7
Moyzis, R.K.8
Grady, D.L.9
-
25
-
-
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, Dairkee SH, Ljung BM, Gray JW, Albertson DG (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211
-
(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
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
26
-
-
0032823523
-
Genome-wide analysis of DNA copy-number changes using cDNA microarrays
-
Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO (1999) Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23:41-46
-
(1999)
Nat Genet
, vol.23
, pp. 41-46
-
-
Pollack, J.R.1
Perou, C.M.2
Alizadeh, A.A.3
Eisen, M.B.4
Pergamenschikov, A.5
Williams, C.F.6
Jeffrey, S.S.7
Botstein, D.8
Brown, P.O.9
-
27
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M (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
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
28
-
-
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, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG (2001) Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29:263-264
-
(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
Law, S.11
Myambo, K.12
Palmer, J.13
Ylstra, B.14
Yue, J.P.15
Gray, J.W.16
Jain, A.N.17
Pinkel, D.18
Albertson, D.G.19
-
29
-
-
0030701970
-
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
-
Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399-407
-
(1997)
Genes Chromosomes Cancer
, vol.20
, pp. 399-407
-
-
Solinas-Toldo, S.1
Lampel, S.2
Stilgenbauer, S.3
Nickolenko, J.4
Benner, A.5
Dohner, H.6
Cremer, T.7
Lichter, P.8
-
30
-
-
0032847867
-
Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome
-
Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J (1999) Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet 86:264-268
-
(1999)
Am J Med Genet
, vol.86
, pp. 264-268
-
-
Sreekantaiah, C.1
Kronn, D.2
Marinescu, R.C.3
Goldin, B.4
Overhauser, J.5
-
31
-
-
0020633044
-
Clinical heterogeneity in 80 home-reared children with cri du chat syndrome
-
Wilkins LE, Brown JA, Nance WE, Wolf B (1983) Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr 102:528-533
-
(1983)
J Pediatr
, vol.102
, pp. 528-533
-
-
Wilkins, L.E.1
Brown, J.A.2
Nance, W.E.3
Wolf, B.4
|