-
1
-
-
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
-
2
-
-
0014234658
-
Chemical differentiation along metaphase chromosomes
-
Caspersson T, Farber S, Foley GE, Kudynowski J, Modest EJ, Simonsson E, Wagh U, Zech L. 1968. Chemical differentiation along metaphase chromosomes. Exp Cell Res 49:219-222.
-
(1968)
Exp Cell Res
, vol.49
, pp. 219-222
-
-
Caspersson, T.1
Farber, S.2
Foley, G.E.3
Kudynowski, J.4
Modest, E.J.5
Simonsson, E.6
Wagh, U.7
Zech, L.8
-
3
-
-
29444441336
-
A high resolution survey of deletion polymorphism in the human genome
-
Conrad DR, Andrews TD, Carter NP, Hurles ME, Pritchard JK. 2006. A high resolution survey of deletion polymorphism in the human genome. Nat Genet 38:75-81.
-
(2006)
Nat Genet
, vol.38
, pp. 75-81
-
-
Conrad, D.R.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
5
-
-
0000971397
-
The chromosomes of man
-
Ford CE, Hamerton J. 1956. The chromosomes of man. Nature 178:1020-1023.
-
(1956)
Nature
, vol.178
, pp. 1020-1023
-
-
Ford, C.E.1
Hamerton, J.2
-
6
-
-
0021347280
-
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22
-
Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH. 1984. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet 65:317-319.
-
(1984)
Hum Genet
, vol.65
, pp. 317-319
-
-
Greenberg, F.1
Crowder, W.E.2
Paschall, V.3
Colon-Linares, J.4
Lubianski, B.5
Ledbetter, D.H.6
-
7
-
-
0013834960
-
Deletion of short arms of chromosome 4-5in a child with defects of midline fusion
-
Hirschorn K, Cooper HL, Firschein IL. 1965. Deletion of short arms of chromosome 4-5in a child with defects of midline fusion. Humangenetik 1:479-482.
-
(1965)
Humangenetik
, vol.1
, pp. 479-482
-
-
Hirschorn, K.1
Cooper, H.L.2
Firschein, I.L.3
-
8
-
-
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
-
9
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D. 1992. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818-821.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
Pinkel, D.7
-
10
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. 2006. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38:999-1001.
-
(2006)
Nat Genet
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
de Leeuw, N.4
Knight, S.J.5
Regan, R.6
Kooy, R.F.7
Reyniers, E.8
Romano, C.9
Fichera, M.10
Schinzel, A.11
Baumer, A.12
Anderlid, B.M.13
Schoumans, J.14
Knoers, N.V.15
van Kessel, A.G.16
Sistermans, E.A.17
Veltman, J.A.18
Brunner, H.G.19
de Vries, B.B.20
more..
-
11
-
-
0026746602
-
Minireview: Cryptic trnal-socations and telomere intergrity
-
Ledbetter DH. 1992. Minireview: Cryptic trnal-socations and telomere intergrity. Am J Hum Genet 51:451-456.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 451-456
-
-
Ledbetter, D.H.1
-
12
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
-
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New Eng J Med 304:325-329.
-
(1981)
New Eng J Med
, vol.304
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, B.S.5
Crawford, J.D.6
-
13
-
-
70449245071
-
Etude des chromosomes somatiques de neuf enfants mongoliens
-
Lejeune J, Gautier M, Turpin MR. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. CR Acad Sci (Paris) 248:1721-1722.
-
(1959)
CR Acad Sci (Paris)
, vol.248
, pp. 1721-1722
-
-
Lejeune, J.1
Gautier, M.2
Turpin, M.R.3
-
14
-
-
78651114072
-
Trois cas de délétion partielle du bras court d'un chromosome 5
-
Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, Turpin R. 1963. Trois cas de délétion partielle du bras court d'un chromosome 5. CR Acad Sci (D) 257: 3098-3102.
-
(1963)
CR Acad Sci
, vol.257
, Issue.D
, pp. 3098-3102
-
-
Lejeune, J.1
Lafourcade, J.2
Berger, R.3
Vialatte, J.4
Boeswillwald, M.5
Seringe, P.6
Turpin, R.7
-
15
-
-
29444457877
-
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM. International HapMap Consortium. 2006. Common deletion polymorphisms in the human genome. Nat Genet 38:86-92.
-
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM. International HapMap Consortium. 2006. Common deletion polymorphisms in the human genome. Nat Genet 38:86-92.
-
-
-
-
16
-
-
0000286732
-
A minute chromosome in human chronic granulocytic leukemia
-
Nowell PC, Hungerford DA. 1960. A minute chromosome in human chronic granulocytic leukemia. Science 132:1497-1501.
-
(1960)
Science
, vol.132
, pp. 1497-1501
-
-
Nowell, P.C.1
Hungerford, D.A.2
-
17
-
-
0022446922
-
Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
-
Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
18
-
-
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
-
19
-
-
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, Eash D, Ledbetter DH, Martin CL. 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
Eash, D.6
Ledbetter, D.H.7
Martin, C.L.8
-
20
-
-
33751329250
-
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler 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, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler 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, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
-
-
-
-
21
-
-
0015694748
-
A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining
-
Rowley JD. 1973. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243: 290-293.
-
(1973)
Nature
, vol.243
, pp. 290-293
-
-
Rowley, J.D.1
-
22
-
-
3242808027
-
-
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.
-
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.
-
-
-
-
23
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knoght SJ, Eichler EE. 2006. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042.
-
(2006)
Nat Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
Stewart, H.7
Price, S.M.8
Blair, E.9
Hennekam, R.C.10
Fitzpatrick, C.A.11
Segraves, R.12
Richmond, T.A.13
Guiver, C.14
Albertson, D.G.15
Pinkel, D.16
Eis, P.S.17
Schwartz, S.18
Knoght, S.J.19
Eichler, E.E.20
more..
-
24
-
-
33748300645
-
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
-
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. 2006. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38:1032-1037.
-
(2006)
Nat Genet
, vol.38
, pp. 1032-1037
-
-
Shaw-Smith, C.1
Pittman, A.M.2
Willatt, L.3
Martin, H.4
Rickman, L.5
Gribble, S.6
Curley, R.7
Cumming, S.8
Dunn, C.9
Kalaitzopoulos, D.10
Porter, K.11
Prigmore, E.12
Krepischi-Santos, A.C.13
Varela, M.C.14
Koiffmann, C.P.15
Lees, A.J.16
Rosenberg, C.17
Firth, H.V.18
de Silva, R.19
Carter, N.P.20
more..
-
25
-
-
84981834288
-
The chromosome numbers of man
-
Tjio HZ, Levan A. 1956. The chromosome numbers of man. Hereditas 42:1-6.
-
(1956)
Hereditas
, vol.42
, pp. 1-6
-
-
Tjio, H.Z.1
Levan, A.2
-
26
-
-
9144240478
-
-
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, Van der Vliet W, Huys EHLPG, Van Rijk A, Smeets D, Van Ravenswaaij-Arts CMA, Knoers NV, Van der Burgt I, De Jong PJ, Brunner HG, Van Kessel AG, Schoenmakers EFPM, Veltman JA. 2003. Array based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
-
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, Van der Vliet W, Huys EHLPG, Van Rijk A, Smeets D, Van Ravenswaaij-Arts CMA, Knoers NV, Van der Burgt I, De Jong PJ, Brunner HG, Van Kessel AG, Schoenmakers EFPM, Veltman JA. 2003. Array based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
-
-
-
-
27
-
-
0013831101
-
Defizienz an den kurzen armen eines chromosomes Nr. 4 [Deficiency on the short arms of a chromosome No. 4]
-
Wolf U, Reinwein H, Porsch R, Schroter R, Baitsch H. 1965. Defizienz an den kurzen armen eines chromosomes Nr. 4 [Deficiency on the short arms of a chromosome No. 4]. Humangenetik 1:397-413.
-
(1965)
Humangenetik
, vol.1
, pp. 397-413
-
-
Wolf, U.1
Reinwein, H.2
Porsch, R.3
Schroter, R.4
Baitsch, H.5
-
28
-
-
0019454785
-
Mid-prophase human chromosomes, the attainment of 2000 bands
-
Yunis JJ. 1981. Mid-prophase human chromosomes, the attainment of 2000 bands. Hum Genet 56:293-298.
-
(1981)
Hum Genet
, vol.56
, pp. 293-298
-
-
Yunis, J.J.1
|