-
1
-
-
0019121059
-
Complex chromosome rearrangements. Report of a new case and literature review
-
Pai G.S., Thomas G.H., Mahoney W., and Migeon B.R. Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet 18 (1980) 436-444
-
(1980)
Clin Genet
, vol.18
, pp. 436-444
-
-
Pai, G.S.1
Thomas, G.H.2
Mahoney, W.3
Migeon, B.R.4
-
2
-
-
27944474013
-
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and an approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation
-
Borg K., Stankiewicz P., Bocian E., Kruczek A., Obersztyn E., Lupski J.R., and Mazurczak T. Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and an approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet 118 (2005) 267-275
-
(2005)
Hum Genet
, vol.118
, pp. 267-275
-
-
Borg, K.1
Stankiewicz, P.2
Bocian, E.3
Kruczek, A.4
Obersztyn, E.5
Lupski, J.R.6
Mazurczak, T.7
-
3
-
-
0031864888
-
De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review
-
Batanian J.R., and Eswara M.S. De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review. Am J Med Genet A 78 (1998) 44-51
-
(1998)
Am J Med Genet A
, vol.78
, pp. 44-51
-
-
Batanian, J.R.1
Eswara, M.S.2
-
4
-
-
0031661854
-
Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products
-
Zahed L., Der Kaloustian V., and Batanian J.R. Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products. Am J Med Genet 79 (1998) 30-34
-
(1998)
Am J Med Genet
, vol.79
, pp. 30-34
-
-
Zahed, L.1
Der Kaloustian, V.2
Batanian, J.R.3
-
5
-
-
0342545888
-
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes
-
Röthlisberger B., Kotzot D., Brecevic L., Koehler M., Balmer D., Binkert F., and Schinzel A. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 8 (1999) 873-883
-
(1999)
Eur J Hum Genet
, vol.8
, pp. 873-883
-
-
Röthlisberger, B.1
Kotzot, D.2
Brecevic, L.3
Koehler, M.4
Balmer, D.5
Binkert, F.6
Schinzel, A.7
-
6
-
-
0037093698
-
Familial complex chromosomal rearrangement resulting in a recombinant chromosome
-
Berend S.A., Bodamer O.A., Shapira S.K., Shaffer L.G., and Bacino C.A. Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet 109 (2002) 311-317
-
(2002)
Am J Med Genet
, vol.109
, pp. 311-317
-
-
Berend, S.A.1
Bodamer, O.A.2
Shapira, S.K.3
Shaffer, L.G.4
Bacino, C.A.5
-
7
-
-
0142062986
-
A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure
-
Lespinasse J., North M.O., Paravy C., Brunel M.J., Malzac P., and Blouin J.L. A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure. Hum Reprod 18 (2003) 2058-2066
-
(2003)
Hum Reprod
, vol.18
, pp. 2058-2066
-
-
Lespinasse, J.1
North, M.O.2
Paravy, C.3
Brunel, M.J.4
Malzac, P.5
Blouin, J.L.6
-
8
-
-
4344590555
-
Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases
-
Lespinasse J., Réthoré M.O., North M.O., Bovier-Lapierre M., Lundsteen C., Fert-Ferrer S., et al. Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases. Ann Genet 47 (2004) 315-324
-
(2004)
Ann Genet
, vol.47
, pp. 315-324
-
-
Lespinasse, J.1
Réthoré, M.O.2
North, M.O.3
Bovier-Lapierre, M.4
Lundsteen, C.5
Fert-Ferrer, S.6
-
9
-
-
0042823383
-
Ten years follow up of a boy with a complex chromosomal rearrangement: going from a >5 to 15-breakpoint CCR
-
Houge G., Liehr T., Schouman J., Ness G.O., Solland K., Starke H., et al. Ten years follow up of a boy with a complex chromosomal rearrangement: going from a >5 to 15-breakpoint CCR. Am J Med Genet A 118 (2003) 235-240
-
(2003)
Am J Med Genet A
, vol.118
, pp. 235-240
-
-
Houge, G.1
Liehr, T.2
Schouman, J.3
Ness, G.O.4
Solland, K.5
Starke, H.6
-
10
-
-
1542475319
-
De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature
-
Weise A., Rittinger O., Starke H., Ziegler M., Claussen U., and Liehr T. De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature. Cytogenet Genome Res 103 (2003) 14-16
-
(2003)
Cytogenet Genome Res
, vol.103
, pp. 14-16
-
-
Weise, A.1
Rittinger, O.2
Starke, H.3
Ziegler, M.4
Claussen, U.5
Liehr, T.6
-
11
-
-
1542790007
-
A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13→q24.1 and partial monosomy 4q27→q28
-
Grasshoff U., Singer S., Liehr T., Starke H., Fode B., Schöning M., and Dufke A. A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13→q24.1 and partial monosomy 4q27→q28. Cytogenet Genome Res 103 (2003) 17-23
-
(2003)
Cytogenet Genome Res
, vol.103
, pp. 17-23
-
-
Grasshoff, U.1
Singer, S.2
Liehr, T.3
Starke, H.4
Fode, B.5
Schöning, M.6
Dufke, A.7
-
12
-
-
4444331256
-
Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity
-
Patsalis P.C., Evangelidou P., Charalambous S., and Sismani C. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet 12 (2004) 647-653
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 647-653
-
-
Patsalis, P.C.1
Evangelidou, P.2
Charalambous, S.3
Sismani, C.4
-
13
-
-
14844336342
-
A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection
-
Kuechler A., Ziegler M., Blank C., Rommel B., Bullerdiek J., Ahrens J., et al. A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection. J Histochem Cytochem 53 (2005) 355-357
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 355-357
-
-
Kuechler, A.1
Ziegler, M.2
Blank, C.3
Rommel, B.4
Bullerdiek, J.5
Ahrens, J.6
-
14
-
-
33344456106
-
Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34),del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements
-
Chen C.P., Chern S.R., Lee C.C., Lin C.C., Li Y.C., Hsieh L.J., et al. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34),del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Prenat Diagn 26 (2006) 138-146
-
(2006)
Prenat Diagn
, vol.26
, pp. 138-146
-
-
Chen, C.P.1
Chern, S.R.2
Lee, C.C.3
Lin, C.C.4
Li, Y.C.5
Hsieh, L.J.6
-
15
-
-
33749450164
-
Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development
-
Karmous-Benailly H., Giuliano F., Massol C., Bloch C., De Ricaud D., Lambert J.C., and Perelman S. Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development. Eur J Med Genet 49 (2006) 431-438
-
(2006)
Eur J Med Genet
, vol.49
, pp. 431-438
-
-
Karmous-Benailly, H.1
Giuliano, F.2
Massol, C.3
Bloch, C.4
De Ricaud, D.5
Lambert, J.C.6
Perelman, S.7
-
16
-
-
33745629101
-
Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs
-
Giardino D., Corti C., Ballarati L., Finelli P., Valtorta C., Botta G., et al. Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs. Prenat Diagn 26 (2006) 565-570
-
(2006)
Prenat Diagn
, vol.26
, pp. 565-570
-
-
Giardino, D.1
Corti, C.2
Ballarati, L.3
Finelli, P.4
Valtorta, C.5
Botta, G.6
-
17
-
-
37249022297
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
-
De Gregori M., Ciccone R., Magini P., Pramparo T., Gimelli S., Messa J., et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44 (2007) 750-762
-
(2007)
J Med Genet
, vol.44
, pp. 750-762
-
-
De Gregori, M.1
Ciccone, R.2
Magini, P.3
Pramparo, T.4
Gimelli, S.5
Messa, J.6
-
18
-
-
34447313641
-
Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22
-
Park J.K., Lee J.I., Jo H.C., Shin J.K., Choi W.J., Lee S.A., et al. Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22. Am J Med Genet A 143A (2007) 1502-1509
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1502-1509
-
-
Park, J.K.1
Lee, J.I.2
Jo, H.C.3
Shin, J.K.4
Choi, W.J.5
Lee, S.A.6
-
19
-
-
35948956330
-
Complex balanced translocation t(1;5;7)(p32.1;14,3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation
-
Borg K., Nowakowska B., Obersztyn E., Cheung S.W., Brycz-Witkowska J., Korniszewski L., et al. Complex balanced translocation t(1;5;7)(p32.1;14,3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A 143 (2007) 2738-2743
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2738-2743
-
-
Borg, K.1
Nowakowska, B.2
Obersztyn, E.3
Cheung, S.W.4
Brycz-Witkowska, J.5
Korniszewski, L.6
-
20
-
-
50849105770
-
Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality
-
Surace C., Digilio M.C., Lombardo A., Sirleto P., Tomaiuolo A.C., Roberti M.C., et al. Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality. Cytogenet Genome Res 121 (2008) 215-221
-
(2008)
Cytogenet Genome Res
, vol.121
, pp. 215-221
-
-
Surace, C.1
Digilio, M.C.2
Lombardo, A.3
Sirleto, P.4
Tomaiuolo, A.C.5
Roberti, M.C.6
-
21
-
-
67649130683
-
Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding
-
Karadeniz N., Mrasek K., and Weise A. Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding. Mol Cytogenet 1 (2008) 17
-
(2008)
Mol Cytogenet
, vol.1
, pp. 17
-
-
Karadeniz, N.1
Mrasek, K.2
Weise, A.3
-
22
-
-
0027537083
-
Complex chromosome rearrangement with ankyloblepharon filiforme adnatum
-
Kousseff B.G., Papenhausen P., Essig Y.P., and Torres M.P. Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. J Med Genet 30 (1993) 167-170
-
(1993)
J Med Genet
, vol.30
, pp. 167-170
-
-
Kousseff, B.G.1
Papenhausen, P.2
Essig, Y.P.3
Torres, M.P.4
-
23
-
-
0025325653
-
Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterization, paternal origin, and association with muscular dystrophy
-
Bodrug S.E., Roberson J.R., Weiss L., Ray P.N., Worton R.G., and Van Dyke D.L. Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterization, paternal origin, and association with muscular dystrophy. J Med Genet 27 (1990) 426-432
-
(1990)
J Med Genet
, vol.27
, pp. 426-432
-
-
Bodrug, S.E.1
Roberson, J.R.2
Weiss, L.3
Ray, P.N.4
Worton, R.G.5
Van Dyke, D.L.6
-
24
-
-
2442686701
-
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly
-
Pichon B., Vankerckhove S., Bourrouillou G., Duprez L., and Abramowicz M.J. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur J Hum Genet 12 (2004) 419-421
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 419-421
-
-
Pichon, B.1
Vankerckhove, S.2
Bourrouillou, G.3
Duprez, L.4
Abramowicz, M.J.5
-
25
-
-
11144339384
-
Long-range control of gene expression: emerging mechanisms and disruption in disease
-
Kleinjan D.A., and van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76 (2005) 8-32
-
(2005)
Am J Hum Genet
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
van Heyningen, V.2
-
26
-
-
42349115184
-
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set
-
Weise A., Mrasek K., Fickelscher I., Claussen U., Cheung S.W., Cai W.W., et al. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem 56 (2008) 487-493
-
(2008)
J Histochem Cytochem
, vol.56
, pp. 487-493
-
-
Weise, A.1
Mrasek, K.2
Fickelscher, I.3
Claussen, U.4
Cheung, S.W.5
Cai, W.W.6
-
28
-
-
0028124418
-
Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance
-
Lurie I.W., Wulfsberg E.A., Prabhakar G., Rosenblum-Vos L.S., Supovitz K.R., and Cohen M.M. Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance. Clin Genet 46 (1994) 244-247
-
(1994)
Clin Genet
, vol.46
, pp. 244-247
-
-
Lurie, I.W.1
Wulfsberg, E.A.2
Prabhakar, G.3
Rosenblum-Vos, L.S.4
Supovitz, K.R.5
Cohen, M.M.6
-
29
-
-
0042821994
-
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
-
Battisti C., Bonaglia M.C., Giglio S., Anichini C., Pucci L., Dotti M.T., et al. De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. Am J Med Genet A 117 (2003) 207-211
-
(2003)
Am J Med Genet A
, vol.117
, pp. 207-211
-
-
Battisti, C.1
Bonaglia, M.C.2
Giglio, S.3
Anichini, C.4
Pucci, L.5
Dotti, M.T.6
-
31
-
-
0021658651
-
Meiotic pairing and gametogenic failure
-
Burgoyne P.S., and Baker T.G. Meiotic pairing and gametogenic failure. Symp Soc Exp Biol 38 (1984) 349-362
-
(1984)
Symp Soc Exp Biol
, vol.38
, pp. 349-362
-
-
Burgoyne, P.S.1
Baker, T.G.2
-
32
-
-
0031883862
-
The meiotic checkpoint monitoring synapsis eliminates spermatocytes via p53-independent apoptosis
-
Odorisio T., Rodriguez T.A., Evans E.P., Clarke A.R., and Burgoyne P.S. The meiotic checkpoint monitoring synapsis eliminates spermatocytes via p53-independent apoptosis. Nat Genet 18 (1998) 257-261
-
(1998)
Nat Genet
, vol.18
, pp. 257-261
-
-
Odorisio, T.1
Rodriguez, T.A.2
Evans, E.P.3
Clarke, A.R.4
Burgoyne, P.S.5
-
33
-
-
10044288203
-
An excess of chromosome 1 breakpoints in male infertility
-
Bache I., Assche E.V., Cingoz S., Bugge M., Tümer Z., Hjorth M., et al. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 12 (2004) 993-1000
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 993-1000
-
-
Bache, I.1
Assche, E.V.2
Cingoz, S.3
Bugge, M.4
Tümer, Z.5
Hjorth, M.6
-
34
-
-
0034709196
-
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci
-
Berend S.A., Spikes A.S., Kashork C.D., Wu J.M., Daw S.C., Scambler P.J., et al. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Am J Med Genet 91 (2000) 313-317
-
(2000)
Am J Med Genet
, vol.91
, pp. 313-317
-
-
Berend, S.A.1
Spikes, A.S.2
Kashork, C.D.3
Wu, J.M.4
Daw, S.C.5
Scambler, P.J.6
-
35
-
-
0025922098
-
Cytogenetic studies in male infertility: a review
-
De Braekeleer M., and Dao T.N. Cytogenetic studies in male infertility: a review. Hum Reprod 6 (1991) 245-250
-
(1991)
Hum Reprod
, vol.6
, pp. 245-250
-
-
De Braekeleer, M.1
Dao, T.N.2
-
36
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
Gribble S.M., Prigmore E., Burford D.C., Porter K.M., Ng B.L., Douglas E.J., et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 42 (2005) 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
Douglas, E.J.6
-
37
-
-
33748448063
-
Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding
-
Liehr T., Starke H., Heller A., Kosyakova N., Mrasek K., Gross M., et al. Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res 114 (2006) 240-244
-
(2006)
Cytogenet Genome Res
, vol.114
, pp. 240-244
-
-
Liehr, T.1
Starke, H.2
Heller, A.3
Kosyakova, N.4
Mrasek, K.5
Gross, M.6
-
38
-
-
0036551276
-
Microdissection based high resolution multicolor banding for all 24 human chromosomes
-
Liehr T., Heller A., Starke H., Rubtsov N., Trifonov V., Mrasek K., et al. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9 (2002) 335-339
-
(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
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