-
2
-
-
0024420602
-
Jumping end-to-end dicentrics in a case of squamous cell carcinoma from a patient with xeroderma pigmentosum
-
Aledo R, Aurias A, Avril M-F, Dutrillaux B: Jumping end-to-end dicentrics in a case of squamous cell carcinoma from a patient with xeroderma pigmentosum. Cancer Genet Cytogenet 40:95-103 (1989).
-
(1989)
Cancer Genet Cytogenet
, vol.40
, pp. 95-103
-
-
Aledo, R.1
Aurias, A.2
Avril, M.-F.3
Dutrillaux, B.4
-
3
-
-
0031693412
-
Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity
-
Andreasson P, Hoglund M, Jonson T, Bekassy A, Mitelman F, Johansson B: Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity. Leukemia 12:1411-1416 (1998).
-
(1998)
Leukemia
, vol.12
, pp. 1411-1416
-
-
Andreasson, P.1
Hoglund, M.2
Jonson, T.3
Bekassy, A.4
Mitelman, F.5
Johansson, B.6
-
4
-
-
0034831138
-
Segmental duplications: Organization and impact within the current human genome project assembly
-
Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE: Segmental duplications: Organization and impact within the current human genome project assembly. Genome Res 11:1005-1017 (2001).
-
(2001)
Genome Res
, vol.11
, pp. 1005-1017
-
-
Bailey, J.A.1
Yavor, A.M.2
Massa, H.F.3
Trask, B.J.4
Eichler, E.E.5
-
5
-
-
0033967643
-
Jumping translocation in acute leukemia of myelomonocytic lineage: A case report and review of the literature
-
Bernard M, Lemée F, Picard F, Ghandour C, Drenou B, Le Prise PY, Lamy T: Jumping translocation in acute leukemia of myelomonocytic lineage: a case report and review of the literature. Leukemia 14:119-122 (2000).
-
(2000)
Leukemia
, vol.14
, pp. 119-122
-
-
Bernard, M.1
Lemée, F.2
Picard, F.3
Ghandour, C.4
Drenou, B.5
Le Prise, P.Y.6
Lamy, T.7
-
6
-
-
0032756052
-
Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: Rearrangements of DNA satellite II and new recurrent translocations
-
Busson-Le Coniat M, Salomon-Nguyen F, Dastugue N, Maarek O, Lafage-Pochitaloff M, Mozziconacci MJ, Baranger L, Brizard F, Radford I, Jeanpierre M, Bernard OA, Berger R: Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite II and new recurrent translocations. Leukemia 13:1975-1981 (1999).
-
(1999)
Leukemia
, vol.13
, pp. 1975-1981
-
-
Busson-Le Coniat, M.1
Salomon-Nguyen, F.2
Dastugue, N.3
Maarek, O.4
Lafage-Pochitaloff, M.5
Mozziconacci, M.J.6
Baranger, L.7
Brizard, F.8
Radford, I.9
Jeanpierre, M.10
Bernard, O.A.11
Berger, R.12
-
7
-
-
0023617756
-
Partial deletion 21: Case report with biochemical studies and review
-
Carpenter NJ, Mayes JS, Say B, Wilson DP: Partial deletion 21: case report with biochemical studies and review. J med Genet 24:706-709 (1987).
-
(1987)
J Med Genet
, vol.24
, pp. 706-709
-
-
Carpenter, N.J.1
Mayes, J.S.2
Say, B.3
Wilson, D.P.4
-
8
-
-
16944363754
-
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome
-
Devriendt K, Petit P, Matthijs G, Vermeesch JR, Holvoet M, De Muelenaere A, Marynen P, Cassiman J-J, Fryns J-P: Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. J med Genet 34:395-399 (1997).
-
(1997)
J Med Genet
, vol.34
, pp. 395-399
-
-
Devriendt, K.1
Petit, P.2
Matthijs, G.3
Vermeesch, J.R.4
Holvoet, M.5
De Muelenaere, A.6
Marynen, P.7
Cassiman, J.-J.8
Fryns, J.-P.9
-
9
-
-
0028145950
-
Cloning and characterization of a 135- to 500-kb region of homology on the long arm of human chromosome 21
-
Dutriaux A, Rossier J, Van Hul W, Nizetic D, Theophille D, Delabar JM, Van Broeckhoven C, Potier M-C: Cloning and characterization of a 135- to 500-kb region of homology on the long arm of human chromosome 21. Genomics 22:472-477 (1994).
-
(1994)
Genomics
, vol.22
, pp. 472-477
-
-
Dutriaux, A.1
Rossier, J.2
Van Hul, W.3
Nizetic, D.4
Theophille, D.5
Delabar, J.M.6
Van Broeckhoven, C.7
Potier, M.-C.8
-
10
-
-
0035159359
-
AT-rich palindromes mediate the constitutional t(11;22) translocation
-
Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE: AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J hum Genet 68:1-13 (2001).
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1-13
-
-
Edelmann, L.1
Spiteri, E.2
Koren, K.3
Pulijaal, V.4
Bialer, M.G.5
Shanske, A.6
Goldberg, R.7
Morrow, B.E.8
-
11
-
-
0035014731
-
Segmental duplications: What's missing, misassigned, and misassembled - and should we care?
-
Eichler EE: Segmental duplications: what's missing, misassigned, and misassembled - and should we care? Genome Res 11:653-656 (2001).
-
(2001)
Genome Res
, vol.11
, pp. 653-656
-
-
Eichler, E.E.1
-
12
-
-
0027260825
-
Moving satellites and unstable chromosome translocations: Clinical and cytogenetic implications
-
Farrell SA, Winsor EJT, Markovic VD: Moving satellites and unstable chromosome translocations: clinical and cytogenetic implications. Am J med Genet 46:715-720 (1993).
-
(1993)
Am J Med Genet
, vol.46
, pp. 715-720
-
-
Farrell, S.A.1
Winsor, E.J.T.2
Markovic, V.D.3
-
13
-
-
0017895388
-
De novo simultaneous reciprocal translocation and deletion
-
Fries K, Mundel G, Rosenblatt M: De novo simultaneous reciprocal translocation and deletion. J med Genet 15:152-154 (1978).
-
(1978)
J Med Genet
, vol.15
, pp. 152-154
-
-
Fries, K.1
Mundel, G.2
Rosenblatt, M.3
-
14
-
-
0036071427
-
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
-
Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J hum Genet 71:276-285 (2002).
-
(2002)
Am J Hum Genet
, vol.71
, pp. 276-285
-
-
Giglio, S.1
Calvari, V.2
Gregato, G.3
Gimelli, G.4
Camanini, S.5
Giorda, R.6
Ragusa, A.7
Guerneri, S.8
Selicorni, A.9
Stumm, M.10
Tonnies, H.11
Ventura, M.12
Zollino, M.13
Neri, G.14
Barber, J.15
Wieczorek, D.16
Rocchi, M.17
Zuffardi, O.18
-
15
-
-
0030752632
-
Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma
-
Gray BA, Bent-Williams A, Wadsworth J, Maiese RL, Bhatia A, Zori RT: Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma. Cancer Genet Cytogenet 98:20-27 (1997).
-
(1997)
Cancer Genet Cytogenet
, vol.98
, pp. 20-27
-
-
Gray, B.A.1
Bent-Williams, A.2
Wadsworth, J.3
Maiese, R.L.4
Bhatia, A.5
Zori, R.T.6
-
16
-
-
0023637460
-
Neonatal diagnosis of Prader-Willi syndrome and its implications
-
Greenberg F, Elder FF, Ledbetter DH: Neonatal diagnosis of Prader-Willi syndrome and its implications. Am J med Genet 28:845-856 (1987).
-
(1987)
Am J Med Genet
, vol.28
, pp. 845-856
-
-
Greenberg, F.1
Elder, F.F.2
Ledbetter, D.H.3
-
17
-
-
0033553455
-
Telomeres do D-loop-T-loop
-
Greider CW: Telomeres do D-loop-T-loop. Cell 97: 419-422 (1999).
-
(1999)
Cell
, vol.97
, pp. 419-422
-
-
Greider, C.W.1
-
18
-
-
0029763259
-
A jumping Robertsonian translocation: A molecular and cytogenetic study
-
Gross SJ, Tharapel AT, Phillips OP, Shulman LP, Pivnick EK, Park VM: A jumping Robertsonian translocation: a molecular and cytogenetic study. Hum Genet 98:291-296 (1996).
-
(1996)
Hum Genet
, vol.98
, pp. 291-296
-
-
Gross, S.J.1
Tharapel, A.T.2
Phillips, O.P.3
Shulman, L.P.4
Pivnick, E.K.5
Park, V.M.6
-
19
-
-
0033602454
-
JTB: A novel membrane protein gene at 1q21 rearranged in a jumping translocation
-
Hatakeyama S, Osawa M, Omine M, Ishikawa F: JTB: a novel membrane protein gene at 1q21 rearranged in a jumping translocation. Oncogene 18:2085-2090 (1999).
-
(1999)
Oncogene
, vol.18
, pp. 2085-2090
-
-
Hatakeyama, S.1
Osawa, M.2
Omine, M.3
Ishikawa, F.4
-
20
-
-
0034682403
-
The DNA sequence of human chromosome 21
-
Erratum in: Nature 407:110 (2000)
-
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park H-S, Toyoda A, Ishii K, Totoki Y, Choi D-K, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schön O, Desario A, Reichelt J, Kauer G, Blöcker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo M-L: The DNA sequence of human chromosome 21. Nature 405:311-319 (2000); Erratum in: Nature 407:110 (2000).
-
(2000)
Nature
, vol.405
, pp. 311-319
-
-
Hattori, M.1
Fujiyama, A.2
Taylor, T.D.3
Watanabe, H.4
Yada, T.5
Park, H.-S.6
Toyoda, A.7
Ishii, K.8
Totoki, Y.9
Choi, D.-K.10
Groner, Y.11
Soeda, E.12
Ohki, M.13
Takagi, T.14
Sakaki, Y.15
Taudien, S.16
Blechschmidt, K.17
Polley, A.18
Menzel, U.19
Delabar, J.20
Kumpf, K.21
Lehmann, R.22
Patterson, D.23
Reichwald, K.24
Rump, A.25
Schillhabel, M.26
Schudy, A.27
Zimmermann, W.28
Rosenthal, A.29
Kudoh, J.30
Schibuya, K.31
Kawasaki, K.32
Asakawa, S.33
Shintani, A.34
Sasaki, T.35
Nagamine, K.36
Mitsuyama, S.37
Antonarakis, S.E.38
Minoshima, S.39
Shimizu, N.40
Nordsiek, G.41
Hornischer, K.42
Brant, P.43
Scharfe, M.44
Schön, O.45
Desario, A.46
Reichelt, J.47
Kauer, G.48
Blöcker, H.49
Ramser, J.50
Beck, A.51
Klages, S.52
Hennig, S.53
Riesselmann, L.54
Dagand, E.55
Haaf, T.56
Wehrmeyer, S.57
Borzym, K.58
Gardiner, K.59
Nizetic, D.60
Francis, F.61
Lehrach, H.62
Reinhardt, R.63
Yaspo, M.-L.64
more..
-
21
-
-
0026776170
-
Jumping translocations originate clonal rearrangements in SV40-transformed human fibroblasts
-
Hoffschir F, Ricoul M, Lemieux N, Estrade S, Cassingena R, and Dutrillaux B: Jumping translocations originate clonal rearrangements in SV40-transformed human fibroblasts. Int J Cancer 52:130-136 (1992).
-
(1992)
Int J Cancer
, vol.52
, pp. 130-136
-
-
Hoffschir, F.1
Ricoul, M.2
Lemieux, N.3
Estrade, S.4
Cassingena, R.5
Dutrillaux, B.6
-
22
-
-
0016281410
-
Monosomy for the centromeric and juxtacentromeric region of chromosome 21
-
Holbek S, Friedrich U, Brostrøm K, Petersen GB: Monosomy for the centromeric and juxtacentromeric region of chromosome 21. Humangenetik 24:191-195 (1974).
-
(1974)
Humangenetik
, vol.24
, pp. 191-195
-
-
Holbek, S.1
Friedrich, U.2
Brostrøm, K.3
Petersen, G.B.4
-
23
-
-
0035475786
-
Lessons from the human genome: Transitions between euchromatin and heterochromatin
-
Horvath JE, Bailey JA, Locke DP, Eichler EE: Lessons from the human genome: transitions between euchromatin and heterochromatin. Hum molec Genet 10:2215-2223 (2001).
-
(2001)
Hum Molec Genet
, vol.10
, pp. 2215-2223
-
-
Horvath, J.E.1
Bailey, J.A.2
Locke, D.P.3
Eichler, E.E.4
-
24
-
-
2042437650
-
International Human Genome Sequencing Consortium: Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium: Initial sequencing and analysis of the human genome. Nature 409:860-921 (2001).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
25
-
-
0031798360
-
Jumping translocation with partial duplications and triplications of chromosomes 7 and 15
-
Jewett T, Marnane D, Stewart W, Hayworth-Hodge R, Finklea L, Klinepeter K, Rao PN, Pettenati MJ: Jumping translocation with partial duplications and triplications of chromosomes 7 and 15. Clin Genet 53:415-420 (1998).
-
(1998)
Clin Genet
, vol.53
, pp. 415-420
-
-
Jewett, T.1
Marnane, D.2
Stewart, W.3
Hayworth-Hodge, R.4
Finklea, L.5
Klinepeter, K.6
Rao, P.N.7
Pettenati, M.J.8
-
26
-
-
0034873101
-
An evaluation of the draft human genome sequence
-
Katsanis N, Worley KC, Lupski JR: An evaluation of the draft human genome sequence. Nature Genet 29:88-91 (2001).
-
(2001)
Nature Genet
, vol.29
, pp. 88-91
-
-
Katsanis, N.1
Worley, K.C.2
Lupski, J.R.3
-
27
-
-
0029007111
-
Non-random jumping translocations as a result of SV40 large T-antigen expression in benign human tumor cells
-
Kazmierczak B, Stern C, Bartnitzke S, Bullerdiek J: Non-random jumping translocations as a result of SV40 large T-antigen expression in benign human tumor cells. Cell Biol Int 19:315-322 (1995).
-
(1995)
Cell Biol Int
, vol.19
, pp. 315-322
-
-
Kazmierczak, B.1
Stern, C.2
Bartnitzke, S.3
Bullerdiek, J.4
-
28
-
-
0031025934
-
The second case of a t(17;22) in a family with neurofibromatosis type 1: Sequence analysis of the breakpoint regions
-
Kehrer-Sawatzki H, Häussler J, Krone W, Bode H, Jenne DE, Mehnert KU, Tümmers U, Assum G: The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions. Hum Genet 99:237-247 (1997).
-
(1997)
Hum Genet
, vol.99
, pp. 237-247
-
-
Kehrer-Sawatzki, H.1
Häussler, J.2
Krone, W.3
Bode, H.4
Jenne, D.E.5
Mehnert, K.U.6
Tümmers, U.7
Assum, G.8
-
29
-
-
0032189976
-
Unusual presentation of multiple myeloma with "jumping translocation" involving 1q21. A case report and review of the literature
-
Keung Y-K, Yung C, Wong JW, Shah F, Cobos E, Tonk V: Unusual presentation of multiple myeloma with "jumping translocation" involving 1q21. A case report and review of the literature. Cancer Genet Cytogenet 106:135-139 (1998).
-
(1998)
Cancer Genet Cytogenet
, vol.106
, pp. 135-139
-
-
Keung, Y.-K.1
Yung, C.2
Wong, J.W.3
Shah, F.4
Cobos, E.5
Tonk, V.6
-
30
-
-
0025780858
-
Deletion of chromosome 21 and normal intelligence: Molecular definition of the lesion
-
Korenberg JR, Kalousek DK, Anneren G, Pulst S-M, Hall JG, Epstein CJ, Cox DR: Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum Genet 87:112-118 (1991).
-
(1991)
Hum Genet
, vol.87
, pp. 112-118
-
-
Korenberg, J.R.1
Kalousek, D.K.2
Anneren, G.3
Pulst, S.-M.4
Hall, J.G.5
Epstein, C.J.6
Cox, D.R.7
-
31
-
-
0034234453
-
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
-
Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML: Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum molec Genet 9:1665-1670 (2000).
-
(2000)
Hum Molec Genet
, vol.9
, pp. 1665-1670
-
-
Kurahashi, H.1
Shaikh, T.H.2
Hu, P.3
Roe, B.A.4
Emanuel, B.S.5
Budarf, M.L.6
-
32
-
-
0018568073
-
Translocation sauteuse (5p;15q), (8q;15q), (12q; 15q)
-
Lejeune C, Maunoury M, Prieur M, Van den Akker J: Translocation sauteuse (5p;15q), (8q;15q), (12q; 15q). [A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)]. (in French). Ann Genet 22:210-213 (1979).
-
(1979)
Ann Genet
, vol.22
, pp. 210-213
-
-
Lejeune, C.1
Maunoury, M.2
Prieur, M.3
Van Den Akker, J.4
-
33
-
-
0037315253
-
Genomic disorders: Recombination-based disease resulting from genome architecture
-
Lupski JR: Genomic disorders: recombination-based disease resulting from genome architecture. Am J hum Genet 72:246-252 (2003).
-
(2003)
Am J Hum Genet
, vol.72
, pp. 246-252
-
-
Lupski, J.R.1
-
34
-
-
0031663725
-
Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
-
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE: Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 81:222-228 (1998).
-
(1998)
Cytogenet Cell Genet
, vol.81
, pp. 222-228
-
-
McTaggart, K.E.1
Budarf, M.L.2
Driscoll, D.A.3
Emanuel, B.S.4
Ferreira, P.5
McDermid, H.E.6
-
35
-
-
0035107553
-
Jumping translocations are common in solid tumor cell lines and result in recurrent fusions of whole chromosome arms
-
Padilla-Nash HM, Heselmeyer-Haddad K, Wangsa D, Zhang H, Ghadimi BM, Macville M, Augustus M, Schröck E, Hilgenfeld E, Reid T: Jumping translocations are common in solid tumor cell lines and result in recurrent fusions of whole chromosome arms. Genes Chrom Cancer 30:349-363 (2001).
-
(2001)
Genes Chrom Cancer
, vol.30
, pp. 349-363
-
-
Padilla-Nash, H.M.1
Heselmeyer-Haddad, K.2
Wangsa, D.3
Zhang, H.4
Ghadimi, B.M.5
Macville, M.6
Augustus, M.7
Schröck, E.8
Hilgenfeld, E.9
Reid, T.10
-
36
-
-
0032991850
-
Jumping translocations involving chromosome 1q in a patient with Crohn disease and acute monocytic leukemia: A review of the literature on jumping translocations in hematological malignancies and Crohn disease
-
Reddy KS, Parsons L, Colman L: Jumping translocations involving chromosome 1q in a patient with Crohn disease and acute monocytic leukemia: a review of the literature on jumping translocations in hematological malignancies and Crohn disease. Cancer Genet Cytogenet 109:144-149 (1999).
-
(1999)
Cancer Genet Cytogenet
, vol.109
, pp. 144-149
-
-
Reddy, K.S.1
Parsons, L.2
Colman, L.3
-
37
-
-
0033772181
-
Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation
-
Reddy KS, Murphy T: Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation. Hum Genet 107:268-275 (2000).
-
(2000)
Hum Genet
, vol.107
, pp. 268-275
-
-
Reddy, K.S.1
Murphy, T.2
-
38
-
-
0020986048
-
"Pure" monosomy 21pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5; 18)(q32;q22)
-
Rivera H, Rivas F, Plascencia L, Cantu JM: "Pure" monosomy 21pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5; 18)(q32;q22). Ann Genet 26:234-237 (1983).
-
(1983)
Ann Genet
, vol.26
, pp. 234-237
-
-
Rivera, H.1
Rivas, F.2
Plascencia, L.3
Cantu, J.M.4
-
39
-
-
0024999897
-
Nonreciprocal and (jumping translocations of 15q1→qter in Prader-Willi syndrome
-
Rivera H, Zuffardi O, Gargantini L: Nonreciprocal and (jumping translocations of 15q1→qter in Prader-Willi syndrome. Am J med Genet 37:311-317 (1990).
-
(1990)
Am J Med Genet
, vol.37
, pp. 311-317
-
-
Rivera, H.1
Zuffardi, O.2
Gargantini, L.3
-
40
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11→q13
-
Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Peñaherrera M, Michaelis RC, Abeliovich D, Schinzel AA: The mechanisms involved in formation of deletions and duplications of 15q11→q13. J med Genet 35:130-136 (1998).
-
(1998)
J Med Genet
, vol.35
, pp. 130-136
-
-
Robinson, W.P.1
Dutly, F.2
Nicholls, R.D.3
Bernasconi, F.4
Peñaherrera, M.5
Michaelis, R.C.6
Abeliovich, D.7
Schinzel, A.A.8
-
41
-
-
0025280887
-
A familial interstitial deletion of the long arm of chromosome 21
-
Roland B, Cox DM, Hoar DI, Fowlow SB, Robertson AS: A familial interstitial deletion of the long arm of chromosome 21. Clin Genet 37:423-428 (1990).
-
(1990)
Clin Genet
, vol.37
, pp. 423-428
-
-
Roland, B.1
Cox, D.M.2
Hoar, D.I.3
Fowlow, S.B.4
Robertson, A.S.5
-
42
-
-
0037162516
-
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: Possible involvement in the genesis of the Philadelphia chromosome translocation
-
Saglio G, Storlazzi CT, Giugliano E, Surace C, Anelli L, Rege-Cambrin G, Zagaria A, Jimenez Velasco A, Heiniger A, Scaravaglio P, Torres Gomez A, Roman Gomez J, Archidiacono N, Banfi S, Rocchi M: A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. Proc natl Acad Sci, USA 99:9882-9887 (2002).
-
(2002)
Proc Natl Acad Sci, USA
, vol.99
, pp. 9882-9887
-
-
Saglio, G.1
Storlazzi, C.T.2
Giugliano, E.3
Surace, C.4
Anelli, L.5
Rege-Cambrin, G.6
Zagaria, A.7
Jimenez Velasco, A.8
Heiniger, A.9
Scaravaglio, P.10
Torres Gomez, A.11
Roman Gomez, J.12
Archidiacono, N.13
Banfi, S.14
Rocchi, M.15
-
43
-
-
0036674397
-
Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child
-
Sala E, Villa N, Riva P, Varisco T, Larizza L, Dalprà L: Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child. J med Genet 39:e42 (2002).
-
(2002)
J Med Genet
, vol.39
-
-
Sala, E.1
Villa, N.2
Riva, P.3
Varisco, T.4
Larizza, L.5
Dalprà, L.6
-
44
-
-
0032030675
-
Jumping translocations of chromosome 1q in multiple myeloma: Evidence for a mechanism involving decondensation of pericentromeric heterochromatin
-
Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B: Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin. Blood 91:1732-1741 (1998).
-
(1998)
Blood
, vol.91
, pp. 1732-1741
-
-
Sawyer, J.R.1
Tricot, G.2
Mattox, S.3
Jagannath, S.4
Barlogie, B.5
-
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 and Lupski JR: 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).
-
(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
-
-
10744223807
-
Frequent translocations occur between low copy repeats on 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
-
Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potoki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE: Frequent translocations occur between low copy repeats on 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum molec Genet 12:1823-1837 (2003).
-
(2003)
Hum Molec Genet
, vol.12
, pp. 1823-1837
-
-
Spiteri, E.1
Babcock, M.2
Kashork, C.D.3
Wakui, K.4
Gogineni, S.5
Lewis, D.A.6
Williams, K.M.7
Minoshima, S.8
Sasaki, T.9
Shimizu, N.10
Potoki, L.11
Pulijaal, V.12
Shanske, A.13
Shaffer, L.G.14
Morrow, B.E.15
-
48
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82 (2002a).
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
49
-
-
0036591666
-
Molecular-evolutionary mechanisms for genomic disorders
-
Stankiewicz P, Lupski JR: Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev 12:312-319 (2002b).
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 312-319
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
50
-
-
0038067849
-
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
-
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park S-S, Lupski JR: Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J hum Genet 72: 1101-1116 (2003).
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1101-1116
-
-
Stankiewicz, P.1
Shaw, C.J.2
Dapper, J.D.3
Wakui, K.4
Shaffer, L.G.5
Withers, M.6
Elizondo, L.7
Park, S.-S.8
Lupski, J.R.9
-
51
-
-
0031838467
-
Segmental jumping translocation in leukemia and lymphoma with a highly complex karyotype
-
Tanaka K, Kamada N: Segmental jumping translocation in leukemia and lymphoma with a highly complex karyotype. Leuk Lymphoma 29:563-575 (1998).
-
(1998)
Leuk Lymphoma
, vol.29
, pp. 563-575
-
-
Tanaka, K.1
Kamada, N.2
-
52
-
-
0019390693
-
Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia
-
Taylor AMR, Oxford JM, Metcalfe JA: Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia. Int J Cancer 27:311-319 (1981).
-
(1981)
Int J Cancer
, vol.27
, pp. 311-319
-
-
Taylor, A.M.R.1
Oxford, J.M.2
Metcalfe, J.A.3
-
53
-
-
0019406235
-
Unstable familial translocations: A t(11;22)mat inherited as a t(11;15)
-
Tomkins DJ: Unstable familial translocations: A t(11;22)mat inherited as a t(11;15). Am J hum Genet 33:745-751 (1981).
-
(1981)
Am J Hum Genet
, vol.33
, pp. 745-751
-
-
Tomkins, D.J.1
-
54
-
-
0035136724
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11→q14
-
Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH: Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11→q14. J med Genet 38: 26-34 (2001).
-
(2001)
J Med Genet
, vol.38
, pp. 26-34
-
-
Ungaro, P.1
Christian, S.L.2
Fantes, J.A.3
Mutirangura, A.4
Black, S.5
Reynolds, J.6
Malcolm, S.7
Dobyns, W.B.8
Ledbetter, D.H.9
-
55
-
-
0031006263
-
Interstitial telomeric sequences at the junction site of a jumping translocation
-
Vermeesch JR, Petit P, Speleman F, Devriendt K, Fryns J-P, Marynen P: Interstitial telomeric sequences at the junction site of a jumping translocation. Hum Genet 99:735-737 (1997).
-
(1997)
Hum Genet
, vol.99
, pp. 735-737
-
-
Vermeesch, J.R.1
Petit, P.2
Speleman, F.3
Devriendt, K.4
Fryns, J.-P.5
Marynen, P.6
-
56
-
-
0026758737
-
Putative monosomy 21 in two patients: Clinical findings and investigation using fluorescence in situ hybridization
-
Viljoen DL, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J: Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization. Clin Genet 42:105-109 (1992).
-
(1992)
Clin Genet
, vol.42
, pp. 105-109
-
-
Viljoen, D.L.1
Speleman, F.2
Smart, R.3
Van Roy, N.4
Du Toit, J.5
Leroy, J.6
-
57
-
-
0029963913
-
Jumping translocation in a phenotypically normal female
-
Von Ballestrem CL, Boavida MG, Zuther C, Carreiro MH, David D, Gal A, Schwinger E: Jumping translocation in a phenotypically normal female. Clin Genet 49:156-159 (1996).
-
(1996)
Clin Genet
, vol.49
, pp. 156-159
-
-
Von Ballestrem, C.L.1
Boavida, M.G.2
Zuther, C.3
Carreiro, M.H.4
David, D.5
Gal, A.6
Schwinger, E.7
-
58
-
-
0344795535
-
Jumping translocations of 9q onto 14p, 13q, and 7q, and pseudo isochromosome 9p results in 9p trisomy syndrome
-
Wakui K, Hidaka E, Ishikawa M, Ichikawa M, Katsuyama T, Fukushima Y: Jumping translocations of 9q onto 14p, 13q, and 7q, and pseudo isochromosome 9p results in 9p trisomy syndrome. Am J hum Genet Suppl 67:152 (2000).
-
(2000)
Am J Hum Genet Suppl
, Issue.67
, pp. 152
-
-
Wakui, K.1
Hidaka, E.2
Ishikawa, M.3
Ichikawa, M.4
Katsuyama, T.5
Fukushima, Y.6
-
59
-
-
0036032115
-
Familial 14-Mb deletion at 21q11.2→q21.3 and variable phenotypic expression
-
Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y: Familial 14-Mb deletion at 21q11.2→q21.3 and variable phenotypic expression. J hum Genet 47:511-516 (2002).
-
(2002)
J Hum Genet
, vol.47
, pp. 511-516
-
-
Wakui, K.1
Toyoda, A.2
Kubota, T.3
Hidaka, E.4
Ishikawa, M.5
Katsuyama, T.6
Sakaki, Y.7
Hattori, M.8
Fukushima, Y.9
-
60
-
-
0031946990
-
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
-
Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S: Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J hum Genet 62:925-936 (1998).
-
(1998)
Am J Hum Genet
, vol.62
, pp. 925-936
-
-
Wandstrat, A.E.1
Leana-Cox, J.2
Jenkins, L.3
Schwartz, S.4
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