-
1
-
-
0028205957
-
Molecular cytogenetics analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region, clinical implications
-
1918252 8178816
-
Leana-Cox J Jenkins L Palmer CG Plattner R Sheppard L Flejter WL Zackowski J Tsien F Schwartz S Molecular cytogenetics analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region, clinical implications Am J Hum Genet 1994, 54:748-756. 1918252 8178816
-
(1994)
Am J Hum Genet
, vol.54
, pp. 748-756
-
-
Leana-Cox, J.1
Jenkins, L.2
Palmer, C.G.3
Plattner, R.4
Sheppard, L.5
Flejter, W.L.6
Zackowski, J.7
Tsien, F.8
Schwartz, S.9
-
2
-
-
0033652564
-
Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of origin
-
10.1007/s004120000103 11151680
-
Wandstrat AE Schwartz S Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of origin Chromosoma 2000, 109:498-505. 10.1007/s004120000103 11151680
-
(2000)
Chromosoma
, vol.109
, pp. 498-505
-
-
Wandstrat, A.E.1
Schwartz, S.2
-
3
-
-
0002522630
-
Isochromosomes and interstitial direct and inverted duplications
-
Alan R Liss, New York Art Daniel
-
Van Dyke DL Isochromosomes and interstitial direct and inverted duplications The Cytogenetics of Mammalian Autosomal Rearrangements Alan R Liss, New York Art Daniel 1988, 635-665.
-
(1988)
The Cytogenetics of Mammalian Autosomal Rearrangements
, pp. 635-665
-
-
Van Dyke, D.L.1
-
4
-
-
0034012083
-
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
-
10.1136/jmg.37.4.281 10745046
-
Kotzot D Martinez MJ Bagci G Basaran S Baumer A Binkert F Brecevic L Castellan C Chrzanowska K Dutly F Gutkowsak A Karauzum SB Krajewska-Walasek M Luceli G Miny P Riegel M Schuffenhauer S Seidel H Schinzel A Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications J Med Genet 2000, 37(4):281-286. 10.1136/jmg.37.4.281 10745046
-
(2000)
J Med Genet
, vol.37
, Issue.4
, pp. 281-286
-
-
Kotzot, D.1
Martinez, M.J.2
Bagci, G.3
Basaran, S.4
Baumer, A.5
Binkert, F.6
Brecevic, L.7
Castellan, C.8
Chrzanowska, K.9
Dutly, F.10
Gutkowsak, A.11
Karauzum, S.B.12
Krajewska-Walasek, M.13
Luceli, G.14
Miny, P.15
Riegel, M.16
Schuffenhauer, S.17
Seidel, H.18
Schinzel, A.19
-
5
-
-
4644342382
-
Inverted duplications: How many of them are mosaic?
-
10.1038/sj.ejhg.5201240 15266302
-
Pramparo T Giglio S Gregato G de Gregori M Patricello MG Ciccone R Scappaticci S Mannino G Lombardi C Pirola B Giorda R Rocchi M Zuffardi O Inverted duplications: How many of them are mosaic? Eur J Hum Genet 2004, 12:713-717. 10.1038/sj.ejhg.5201240 15266302
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 713-717
-
-
Pramparo, T.1
Giglio, S.2
Gregato, G.3
de Gregori, M.4
Patricello, M.G.5
Ciccone, R.6
Scappaticci, S.7
Mannino, G.8
Lombardi, C.9
Pirola, B.10
Giorda, R.11
Rocchi, M.12
Zuffardi, O.13
-
6
-
-
34247216070
-
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: Evidence for coincident chromosome healing by telomere capture and neo-telomere formation
-
10.1136/jmg.2006.045476 17172463
-
Chabchoub E Rodriguez L Galan E Mansilla E Martinez-Fernandez ML Martinez-Frias ML Fryns J-P Vermeesch JR Molecular characterisation of a mosaicism with a complex chromosome rearrangement: Evidence for coincident chromosome healing by telomere capture and neo-telomere formation J Med Genet 2007, 44:250-256. 10.1136/jmg.2006.045476 17172463
-
(2007)
J Med Genet
, vol.44
, pp. 250-256
-
-
Chabchoub, E.1
Rodriguez, L.2
Galan, E.3
Mansilla, E.4
Martinez-Fernandez, M.L.5
Martinez-Frias, M.L.6
Fryns, J.-P.7
Vermeesch, J.R.8
-
7
-
-
0042232610
-
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
-
10.1093/hmg/ddg231 12915474
-
Ballif BC Yu W Shaw CA Kashork CD Shaffer LG Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions Hum Mol Genet 2003, 12(17):2153-2165. 10.1093/hmg/ddg231 12915474
-
(2003)
Hum Mol Genet
, vol.12
, Issue.17
, pp. 2153-2165
-
-
Ballif, B.C.1
Yu, W.2
Shaw, C.A.3
Kashork, C.D.4
Shaffer, L.G.5
-
8
-
-
0029872174
-
Telomerase activity in human germline and embryonic tissues and cells
-
10.1002/(SICI)1520-6408(1996)18:2<173::AID-DVG10>3.0.CO;2-3 8934879
-
Wright WE Piatyszek MA Rainey WE Byrd W Shay JW Telomerase activity in human germline and embryonic tissues and cells Dev Genet 1996, 18(2):173-179. 10.1002/ (SICI)1520-6408(1996)18:2<173::AID-DVG10>3.0.CO;2-3 8934879
-
(1996)
Dev Genet
, vol.18
, Issue.2
, pp. 173-179
-
-
Wright, W.E.1
Piatyszek, M.A.2
Rainey, W.E.3
Byrd, W.4
Shay, J.W.5
-
9
-
-
0035218603
-
Alternative lengthening of telomeres in human cells
-
10.1667/0033-7587(2001)155[0194:ALOTIH]2.0.CO;2 11121234
-
Reddel RR Bryan TM Colgin LM Perrem KT Yeager TR Alternative lengthening of telomeres in human cells Radiat Res 2001, 155(1):194-200. 10.1667/ 0033-7587(2001)155[0194:ALOTIH]2.0.CO;2 11121234
-
(2001)
Radiat Res
, vol.155
, Issue.1
, pp. 194-200
-
-
Reddel, R.R.1
Bryan, T.M.2
Colgin, L.M.3
Perrem, K.T.4
Yeager, T.R.5
-
10
-
-
0029021347
-
Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin
-
10.1002/ajmg.1320580402 8533837
-
Hoo JJ Chao M Szego K Rauer M Echiverri SC Harris C Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin Am J Med Genet 1995, 58:299-304. 10.1002/ajmg.1320580402 8533837
-
(1995)
Am J Med Genet
, vol.58
, pp. 299-304
-
-
Hoo, J.J.1
Chao, M.2
Szego, K.3
Rauer, M.4
Echiverri, S.C.5
Harris, C.6
-
11
-
-
0035934003
-
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
-
10.1002/1096-8628(20010722)102:1<76::AID-AJMG1389>3.0.CO;2-4 11471177
-
Cotter PD Kaffe S Lei L Gershin IF Hirschhorn K Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4 Am J Med Genet 2001, 102:76-80. 10.1002/ 1096-8628(20010722)102:1<76::AID-AJMG1389>3.0.CO;2-4 11471177
-
(2001)
Am J Med Genet
, vol.102
, pp. 76-80
-
-
Cotter, P.D.1
Kaffe, S.2
Lei, L.3
Gershin, I.F.4
Hirschhorn, K.5
-
12
-
-
0031762016
-
Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?
-
10.1038/sj.ejhg.5200217 9801868 9801868
-
Jenderny J Poetsch M Hoeltzenbein M Friedrich U Jauch A Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/ deficiencies? Eur J Hum Genet 1998, 6:439-444. 10.1038/sj.ejhg.5200217 9801868
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 439-444
-
-
Jenderny, J.1
Poetsch, M.2
Hoeltzenbein, M.3
Friedrich, U.4
Jauch, A.5
-
13
-
-
0041821830
-
Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome
-
10.1002/ajmg.a.20208
-
Kondoh Y Toma T Ohashi H Harada N Yoshiura K-O Ohta T Kishino T Niikawa N MatsumotoPN Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome Am J Med Genet 2003, 120A:123-126. 10.1002/ajmg.a.20208
-
(2003)
Am J Med Genet
, vol.120 A
, pp. 123-126
-
-
Kondoh, Y.1
Toma, T.2
Ohashi, H.3
Harada, N.4
Yoshiura, K.-O.5
Ohta, T.6
Kishino, T.7
Niikawa, N.8
Matsumoto, N.9
-
14
-
-
18244397419
-
Reproductive history of a healthy woman with mosaic duplication of chromosome 4p
-
10.1002/pd.1095 15849782
-
Bernardini L Sinibaldi L Ceccarini C Novelli A Dallapiccola B Reproductive history of a healthy woman with mosaic duplication of chromosome 4p Prenat Diagn 2005, 25:283-285. 10.1002/pd.1095 15849782
-
(2005)
Prenat Diagn
, vol.25
, pp. 283-285
-
-
Bernardini, L.1
Sinibaldi, L.2
Ceccarini, C.3
Novelli, A.4
Dallapiccola, B.5
-
15
-
-
0031031423
-
A paternally derived inverted duplication of 7q with evidence of a telomeric deletion
-
10.1002/(SICI)1096-8628(19970110)68:1<76::AID-AJMG15>3.0.CO;2-L 8986281
-
Stetten G Charity LL Kasch LM Scott AF Berman CL Pressman E Blakemore KJ A paternally derived inverted duplication of 7q with evidence of a telomeric deletion Am J Med Genet 1997, 68:76-81. 10.1002/ (SICI)1096-8628(19970110)68:1<76::AID-AJMG15>3.0.CO;2-L 8986281
-
(1997)
Am J Med Genet
, vol.68
, pp. 76-81
-
-
Stetten, G.1
Charity, L.L.2
Kasch, L.M.3
Scott, A.F.4
Berman, C.L.5
Pressman, E.6
Blakemore, K.J.7
-
16
-
-
0142217951
-
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: A mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event
-
10.1136/jmg.40.8.e93 12920085
-
Vermeesch JR Thoelen R Salden I Raes M Matthijs G Fryns J-P Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: A mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event J Med Genet 2003, 40:e93. 10.1136/jmg.40.8.e93 12920085
-
(2003)
J Med Genet
, vol.40
-
-
Vermeesch, J.R.1
Thoelen, R.2
Salden, I.3
Raes, M.4
Matthijs, G.5
Fryns, J.-P.6
-
17
-
-
0035839840
-
DNA double strand break repair and chromosomal translocation: Lessons from animal models
-
10.1038/sj.onc.1204767 11607810
-
Ferguson DO Alt FW DNA double strand break repair and chromosomal translocation: Lessons from animal models Oncogene 2001, 20:5572-5579. 10.1038/sj.onc.1204767 11607810
-
(2001)
Oncogene
, vol.20
, pp. 5572-5579
-
-
Ferguson, D.O.1
Alt, F.W.2
-
18
-
-
0032739752
-
Telomeric repeat organization - A comparative in situ study between man and rodent
-
10.1159/000015339 10575206
-
Serakinci N Krejci K Koch J Telomeric repeat organization - a comparative in situ study between man and rodent Cytogenet Cell Genet 1999, 86:204-211. 10.1159/000015339 10575206
-
(1999)
Cytogenet Cell Genet
, vol.86
, pp. 204-211
-
-
Serakinci, N.1
Krejci, K.2
Koch, J.3
-
19
-
-
33544463211
-
Acrocentric chromosomes without short arms: Is there an increased risk for an autosomal trisomy due to isochromosome formation
-
abstract 3.072
-
Tuerlings J van Ravenswaay C Smeets D Acrocentric chromosomes without short arms: Is there an increased risk for an autosomal trisomy due to isochromosome formation Eur J Hum Genet 1996, 4(Suppl 1):37. abstract 3.072.
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.SUPPL. 1
, pp. 37
-
-
Tuerlings, J.1
van Ravenswaay, C.2
Smeets, D.3
-
20
-
-
0022460748
-
Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype
-
3723556
-
Sutton SD Ridler MA Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype J Med Genet 1986, 23(3):258-259. 3723556
-
(1986)
J Med Genet
, vol.23
, Issue.3
, pp. 258-259
-
-
Sutton, S.D.1
Ridler, M.A.2
-
21
-
-
0025326471
-
Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2)]
-
10.1002/ajmg.1320360221 2368814
-
Bryke CR Lindgren V Fryburg JS Yang-Feng TL Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/ 46,XY,-18,+dic(18)(q12.2)] Am J Med Genet 1990, 36(2):247-250. 10.1002/ ajmg.1320360221 2368814
-
(1990)
Am J Med Genet
, vol.36
, Issue.2
, pp. 247-250
-
-
Bryke, C.R.1
Lindgren, V.2
Fryburg, J.S.3
Yang-Feng, T.L.4
-
22
-
-
0034078687
-
Jumping translocations in spontaneous abortions
-
10.1159/000015478 10773659
-
Levy B Dunn TM Hirschhorn K Kardon N Jumping translocations in spontaneous abortions Cytogenet Cell Genet 2000, 88:25-29. 10.1159/ 000015478 10773659
-
(2000)
Cytogenet Cell Genet
, vol.88
, pp. 25-29
-
-
Levy, B.1
Dunn, T.M.2
Hirschhorn, K.3
Kardon, N.4
-
23
-
-
0031693412
-
Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity
-
10.1038/sj.leu.2401108 9737690
-
Andreasson P Hoglund M Jonson T Bekassy A Mitelman F Johansson B Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity Leukemia 1998, 12:1411-1416. 10.1038/ sj.leu.2401108 9737690
-
(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
-
24
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
1287181 10869233 10.1086/302998
-
Knight SJ Lese CM Precht KS Kuc J Ning Y Lucas S Regan R Brenan M Nicod A Lawrie NM Cardy DL Nguyen H Hudson TJ Riethman HC Ledbetter DH Flint J An optimized set of human telomere clones for studying telomere integrity and architecture Am J Hum Genet 2000, 67:320-332. 1287181 10869233 10.1086/302998
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.11
Nguyen, H.12
Hudson, T.J.13
Riethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
25
-
-
42349090556
-
-
MRC-Holland http://www.mrc-holland.com
-
-
-
|