-
1
-
-
22844440839
-
Vive la difference!
-
Lee C: Vive la difference! Nat Genet 37: 660-661, 2005.
-
(2005)
Nat Genet
, vol.37
, pp. 660-661
-
-
Lee, C.1
-
2
-
-
0347358913
-
The evolution of molecular markers - just a matter of fashion?
-
Schlötterer C: The evolution of molecular markers - just a matter of fashion? Nat Rev Genet 5: 63-69, 2004.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 63-69
-
-
Schlötterer, C.1
-
3
-
-
1942491171
-
Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches
-
Liehr T, Nietzel A, Starke H, Heller A, Weise A, Kuechler A, Senger G, Ebner S, Martin T, Stumm M, Wegner R, Tonnies H, Hoppe C, Claussen U and von Eggeling F: Characterization of small marker chromosomes (SMC) by recently developed molecular cytogenetic approaches. J Assoc Genet Technol 29: 5-10, 2003.
-
(2003)
J Assoc Genet Technol
, vol.29
, pp. 5-10
-
-
Liehr, T.1
Nietzel, A.2
Starke, H.3
Heller, A.4
Weise, A.5
Kuechler, A.6
Senger, G.7
Ebner, S.8
Martin, T.9
Stumm, M.10
Wegner, R.11
Tonnies, H.12
Hoppe, C.13
Claussen, U.14
von Eggeling, F.15
-
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 and Liehr T: Partial hexasomy 15pter-->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report. J Med Genet 40: e28, 2003.
-
(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
-
-
0016679172
-
Chromosome polymorphism in a human newborn population. II. Potentials of polymorphic chromosome variants for characterizing the idiogram of an individual
-
Müller H, Klinger HP and Glasser M: Chromosome polymorphism in a human newborn population. II. Potentials of polymorphic chromosome variants for characterizing the idiogram of an individual. Cytogenet Cell Genet 15: 239-255, 1975.
-
(1975)
Cytogenet Cell Genet
, vol.15
, pp. 239-255
-
-
Müller, H.1
Klinger, H.P.2
Glasser, M.3
-
8
-
-
10744222332
-
Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA heteromorphism
-
Liehr T, Ziegler M, Starke H, Heller A, Kuechler A, Kittner G, Beensen V, Seidel J, Hassler H, Musebeck J and Claussen U: Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA heteromorphism. Clin Genet 64: 166-167, 2003.
-
(2003)
Clin Genet
, vol.64
, pp. 166-167
-
-
Liehr, T.1
Ziegler, M.2
Starke, H.3
Heller, A.4
Kuechler, A.5
Kittner, G.6
Beensen, V.7
Seidel, J.8
Hassler, H.9
Musebeck, J.10
Claussen, U.11
-
9
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW and Lee C: Detection of large-scale variation in the human genome. Nat Genet 36: 949-951, 2004.
-
(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
-
10
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér 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 and Wigler M: Large-scale copy number polymorphism in the human genome. Science 23: 525-528, 2004.
-
(2004)
Science
, vol.23
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Månér, 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..
-
11
-
-
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, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M and Carter NP: 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.
-
(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
Fiegler, H.6
Firth, H.7
Sanlaville, D.8
Winter, R.9
Colleaux, L.10
Bobrow, M.11
Carter, N.P.12
-
12
-
-
20544462642
-
Segmental duplications and copy-number variation in the human genome
-
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D and Eichler EE: Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77: 78-88, 2005.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 78-88
-
-
Sharp, A.J.1
Locke, D.P.2
McGrath, S.D.3
Cheng, Z.4
Bailey, J.A.5
Vallente, R.U.6
Pertz, L.M.7
Clark, R.A.8
Schwartz, S.9
Segraves, R.10
Oseroff, V.V.11
Albertson, D.G.12
Pinkel, D.13
Eichler, E.E.14
-
13
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV and Eichler EE: Fine-scale structural variation of the human genome. Nat Genet 37: 727-732, 2005.
-
(2005)
Nat Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
Pinkel, D.10
Olson, M.V.11
Eichler, E.E.12
-
14
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG and Veltman JA: Diagnostic genome profiling in mental retardation. Am J Hum Genet 77: 606-616, 2005.
-
(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
Janssen, I.M.6
Reijmersdal, S.7
Nillesen, W.M.8
Huys, E.H.9
Leeuw, N.10
Smeets, D.11
Sistermans, E.A.12
Feuth, T.13
van Ravenswaaij-Arts, C.M.14
van Kessel, A.G.15
Schoenmakers, E.F.16
Brunner, H.G.17
Veltman, J.A.18
-
15
-
-
34147145526
-
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
-
Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R and Scherer SW: Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet 1: 56, 2005.
-
(2005)
PLoS Genet
, vol.1
, pp. 56
-
-
Feuk, L.1
MacDonald, J.R.2
Tang, T.3
Carson, A.R.4
Li, M.5
Rao, G.6
Khaja, R.7
Scherer, S.W.8
-
16
-
-
24944478689
-
Detection of chromosomal imbalances in children with idiopathic mental retardation by array-based comparative genomic hybridisation (array-CGH)
-
Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM and Nordenskjold M: Detection of chromosomal imbalances in children with idiopathic mental retardation by array-based comparative genomic hybridisation (array-CGH). J Med Genet 42: 699-705, 2005.
-
(2005)
J Med Genet
, vol.42
, pp. 699-705
-
-
Schoumans, J.1
Ruivenkamp, C.2
Holmberg, E.3
Kyllerman, M.4
Anderlid, B.M.5
Nordenskjold, M.6
-
17
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
Conrad DF, Andrews TD, Carter NP, Hurles ME and 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
-
18
-
-
29444450702
-
Common deletions and SNPs are in linkage disequilibrium in the human genome
-
Hinds DA, Klock AP, Jen M, Chen X and Frazer KA: Common deletions and SNPs are in linkage disequilibrium in the human genome Nat Genet 38: 82-85, 2006.
-
(2006)
Nat Genet
, vol.38
, pp. 82-85
-
-
Hinds, D.A.1
Klock, A.P.2
Jen, M.3
Chen, X.4
Frazer, K.A.5
-
19
-
-
33746513094
-
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
-
Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM and Eichler EE: Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79: 275-290, 2006.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 275-290
-
-
Locke, D.P.1
Sharp, A.J.2
McCarroll, S.A.3
McGrath, S.D.4
Newman, T.L.5
Cheng, Z.6
Schwartz, S.7
Albertson, D.G.8
Pinkel, D.9
Altshuler, D.M.10
Eichler, E.E.11
-
20
-
-
33751329250
-
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fieglerm H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW and Hurles ME: Global variation in copy number in the human genome. Nature 444: 444-454, 2006.
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fieglerm H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW and Hurles ME: Global variation in copy number in the human genome. Nature 444: 444-454, 2006.
-
-
-
-
22
-
-
0036551276
-
Microdissection based high resolution multicolor banding for all 24 human chromosomes
-
Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A and Claussen U: Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335-339, 2002.
-
(2002)
Int J Mol Med
, vol.9
, pp. 335-339
-
-
Liehr, T.1
Heller, A.2
Starke, H.3
Rubtsov, N.4
Trifonov, V.5
Mrasek, K.6
Weise, A.7
Kuechler, A.8
Claussen, U.9
-
23
-
-
0000617458
-
Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH analysis
-
Liehr T, Thoma K, Kammler K, Gehring C, Ekici A, Bathke KD, Grehl H and Rautenstrauss B: Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH analysis. Appl Cytogenet 21: 185-188, 1995.
-
(1995)
Appl Cytogenet
, vol.21
, pp. 185-188
-
-
Liehr, T.1
Thoma, K.2
Kammler, K.3
Gehring, C.4
Ekici, A.5
Bathke, K.D.6
Grehl, H.7
Rautenstrauss, B.8
-
25
-
-
14844290272
-
An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics
-
Iourov IY, Soloviev IV, Vorsanova SG, Monakhov VV and Yurov YB: An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics. J Histochem Cytochem 53: 401-408, 2005.
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 401-408
-
-
Iourov, I.Y.1
Soloviev, I.V.2
Vorsanova, S.G.3
Monakhov, V.V.4
Yurov, Y.B.5
-
26
-
-
22144446038
-
Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
-
Kotzot D and Utermann G: Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet 136: 287-305, 2005.
-
(2005)
Am J Med Genet
, vol.136
, pp. 287-305
-
-
Kotzot, D.1
Utermann, G.2
-
27
-
-
27144478643
-
Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias
-
Fitzgibbon J, Smith LL, Raghavan M, Smith ML, Debernardi S, Skoulakis S, Lillington D, Lister TA and Young BD: Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias. Cancer Res 65: 9152-9154, 2005.
-
(2005)
Cancer Res
, vol.65
, pp. 9152-9154
-
-
Fitzgibbon, J.1
Smith, L.L.2
Raghavan, M.3
Smith, M.L.4
Debernardi, S.5
Skoulakis, S.6
Lillington, D.7
Lister, T.A.8
Young, B.D.9
-
28
-
-
25844451158
-
Frequent loss of heterozygosity without loss of genetic material in acute myeloid leukemia with a normal karyotype
-
Gorletta TA, Gasparini P, D'Elios MM, Trubia M, Pelicci PG and Di Fiore PP: Frequent loss of heterozygosity without loss of genetic material in acute myeloid leukemia with a normal karyotype. Genes Chromosomes Cancer 44: 334-337, 2005.
-
(2005)
Genes Chromosomes Cancer
, vol.44
, pp. 334-337
-
-
Gorletta, T.A.1
Gasparini, P.2
D'Elios, M.M.3
Trubia, M.4
Pelicci, P.G.5
Di Fiore, P.P.6
-
29
-
-
27144450643
-
Association between large-scale genomic homozygosity without chromosomal loss and nonseminomatous germ cell tumor development
-
Lu YJ, Yang J, Noel E, Skoulakis S, Chaplin T, Raghavan M, Purkis T, McIntyre A, Kudahetti SC, Naase M, Berney D, Shipley J, Oliver RT and Young BD: Association between large-scale genomic homozygosity without chromosomal loss and nonseminomatous germ cell tumor development. Cancer Res 65: 9137-9141, 2005.
-
(2005)
Cancer Res
, vol.65
, pp. 9137-9141
-
-
Lu, Y.J.1
Yang, J.2
Noel, E.3
Skoulakis, S.4
Chaplin, T.5
Raghavan, M.6
Purkis, T.7
McIntyre, A.8
Kudahetti, S.C.9
Naase, M.10
Berney, D.11
Shipley, J.12
Oliver, R.T.13
Young, B.D.14
-
30
-
-
12544257171
-
Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias
-
Raghavan M, Lillington DM, Skoulakis S, Debernardi S, Chaplin T, Foot NJ, Lister TA and Young BD: Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias. Cancer Res 65: 375-378, 2005.
-
(2005)
Cancer Res
, vol.65
, pp. 375-378
-
-
Raghavan, M.1
Lillington, D.M.2
Skoulakis, S.3
Debernardi, S.4
Chaplin, T.5
Foot, N.J.6
Lister, T.A.7
Young, B.D.8
-
31
-
-
33745773044
-
Assessment of submicroscopic genetic lesions by single nucleotide polymorphism arrays in a child with acute myeloid leukemia and FLT3-intemal tandem duplication
-
Bungaro S, Raghavan M, Dell'Oro MG, Paolucci P, Young BD, Biondi A and Cazzaniga G: Assessment of submicroscopic genetic lesions by single nucleotide polymorphism arrays in a child with acute myeloid leukemia and FLT3-intemal tandem duplication. Haematologica 91: 998-1000, 2006.
-
(2006)
Haematologica
, vol.91
, pp. 998-1000
-
-
Bungaro, S.1
Raghavan, M.2
Dell'Oro, M.G.3
Paolucci, P.4
Young, B.D.5
Biondi, A.6
Cazzaniga, G.7
|