-
1
-
-
0029022218
-
Down's syndrome births and pregnancy terminations in 1989 to 1993: Preliminary findings
-
7632634
-
Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings. E Alberman D Mutton R Ide A Nicholson M Bobrow, Br J Obstet Gynaecol 1995 102 445 447 7632634
-
(1995)
Br J Obstet Gynaecol
, vol.102
, pp. 445-447
-
-
Alberman, E.1
Mutton, D.2
Ide, R.3
Nicholson, A.4
Bobrow, M.5
-
2
-
-
38449087657
-
The origin of human aneuploidy: Where we have been, where we are going
-
10.1093/hmg/ddm243. 17911163
-
The origin of human aneuploidy: where we have been, where we are going. T Hassold H Hall P Hunt, Hum Mol Genet 2007 16 SpecN2 203 208 10.1093/hmg/ddm243 17911163
-
(2007)
Hum Mol Genet
, vol.16
, Issue.SPECN2
, pp. 18203-208
-
-
Hassold, T.1
Hall, H.2
Hunt, P.3
-
3
-
-
35348961532
-
Parental mosaicism for trisomy 21: Problems with its detection and an approach to determininig its population rate
-
DOI 10.1089/gte.2006.0515
-
Parental mosaicism for trisomy 21. Problems with its detection and an approach to determining its population rate. NV Kovaleva, Genet Test 2007 11 342 345 10.1089/gte.2006.0515 (Pubitemid 47614403)
-
(2007)
Genetic Testing
, vol.11
, Issue.3
, pp. 341-344
-
-
Kovaleva, N.V.1
-
4
-
-
68049085066
-
On the origin of trisomy 21 Down syndrome
-
10.1186/1755-8166-1-21. 18801168
-
On the origin of trisomy 21 Down syndrome. MA Hulten SD Patel M Tankimanova M Westgren N Papadogiannakis AM Jonsson E Iwarsson, Mol Cytogenet 2008 1 21 10.1186/1755-8166-1-21 18801168
-
(2008)
Mol Cytogenet
, vol.1
, pp. 21
-
-
Hulten, M.A.1
Patel, S.D.2
Tankimanova, M.3
Westgren, M.4
Papadogiannakis, N.5
Jonsson, A.M.6
Iwarsson, E.7
-
5
-
-
27544498145
-
Recurrent trisomy 21: Four cases in three generations
-
DOI 10.1111/j.1399-0004.2005.00512.x
-
Recurrent trisomy 21: four cases in three generations. JL Gair L Arbour R Rupps R Jiang H Bruyere WP Robinson, Clin Genet 2005 68 430 435 10.1111/j.1399-0004.2005.00512.x 16207210 (Pubitemid 41535967)
-
(2005)
Clinical Genetics
, vol.68
, Issue.5
, pp. 430-435
-
-
Gair, J.L.1
Arbour, L.2
Rupps, R.3
Jiang, R.4
Bruyere, H.5
Robinson, W.P.6
-
6
-
-
33846953609
-
The National Down syndrome project: Design and implementation
-
The National Down syndrome project: design and implementation. SB Freeman EG Allen CL Oxford-Wright SW Tinker C Druschel CA Hobbs LA O'Leary PA Romitti MH Royle CP Torfs SL Sherman, Publ Health Rep 2007 122 62 72
-
(2007)
Publ Health Rep
, vol.122
, pp. 62-72
-
-
Freeman, S.B.1
Allen, E.G.2
Oxford-Wright, C.L.3
Tinker, S.W.4
Druschel, C.5
Hobbs, C.A.6
O'Leary, L.A.7
Romitti, P.A.8
Royle, M.H.9
Torfs, C.P.10
Sherman, S.L.11
-
8
-
-
77951562557
-
Problems of chromosome 21 mosaicism. A review
-
14520876
-
Problems of chromosome 21 mosaicism. A review. NV Kovaleva, Tsitologiia 2003 45 434 439 14520876
-
(2003)
Tsitologiia
, vol.45
, pp. 434-439
-
-
Kovaleva, N.V.1
-
10
-
-
0020069794
-
Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome
-
DOI 10.1007/BF00569714
-
Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome. W Werner FH Herrmann B John, Hum Genet 1982 60 202 204 10.1007/BF00569714 6210621 (Pubitemid 12139675)
-
(1982)
Human Genetics
, vol.60
, Issue.2
, pp. 202-204
-
-
Werner, W.1
Herrmann, F.H.2
John, B.3
-
11
-
-
0027083386
-
Trisomy 21 mosaicism in two subjects from two generations
-
Trisomy 21 mosaicism in two subjects from two generations. A Casati R Giorgi A Lanza E Raimondi P Vagnarelli C Mondello P Ghetti G Piazzi F Nuzzo, Ann Genet 1992 35 245 250 1296525 (Pubitemid 23050781)
-
(1992)
Annales de Genetique
, vol.35
, Issue.4
, pp. 245-250
-
-
Casati, A.1
Giorgi, R.2
Lanza, A.3
Raimondi, E.4
Vagnarelli, P.5
Mondella, C.6
Ghetti, P.7
Piazzi, G.8
Nuzzo, F.9
-
12
-
-
0026970018
-
Distributive pairing and aneuploidy in man
-
1468642
-
Distributive pairing and aneuploidy in man. NV Kovaleva, Genetika 1992 28 5 15 1468642
-
(1992)
Genetika
, vol.28
, pp. 5-15
-
-
Kovaleva, N.V.1
-
13
-
-
0027379763
-
Paternal nondisjunction in trisomy 21: Excess of male patients
-
Paternal nondisjunction in trisomy 21: excess of male patients. MB Petersen SE Antonarakis TJ Hassold SB Freeman SL Sherman D Avramopoulos M Mikkelsen, Hum Mol Genet 1993 2 1691 1695 10.1093/hmg/2.10.1691 8268923 (Pubitemid 23358690)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.10
, pp. 1691-1695
-
-
Petersen, M.B.1
Antonarakis, S.E.2
Hassold, T.J.3
Freeman, S.B.4
Sherman, S.L.5
Avramopoulos, D.6
Mikkelsen, M.7
-
14
-
-
0021229263
-
Maternal age-specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52 965 amniocenteses
-
10.1002/pd.1970040704. 6235485
-
Maternal age-specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52 965 amniocenteses. MA Ferguson-Smith JRW Yates, Prenat Diagn 1984 4 Special 5 45 10.1002/pd.1970040704 6235485
-
(1984)
Prenat Diagn
, vol.4
, Issue.SPECIAL
, pp. 5-45
-
-
Ferguson-Smith, M.A.1
Yates, J.R.W.2
-
15
-
-
0036878588
-
Sex ratio in Down syndrome. A review
-
Sex ratio in Down syndrome. A review. NV Kovaleva, Tsitol Genet 2002 36 6 54 69
-
(2002)
Tsitol Genet
, vol.36
, Issue.6
, pp. 54-69
-
-
Kovaleva, N.V.1
-
16
-
-
15744365616
-
Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes
-
10.1002/ajmg.a.30306. 15704133
-
Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. NV Kovaleva DE Mutton, Am J Med Genet A 2005 134A 24 32 10.1002/ajmg.a.30306 15704133
-
(2005)
Am J Med Genet A
, vol.134
, pp. 24-32
-
-
Kovaleva, N.V.1
Mutton, D.E.2
-
17
-
-
0029940214
-
Sex ratios in fetuses and liveborn infants with autosomal aneuploidy
-
DOI 10.1002/(SICI)1096-8628(19960614)63:3<492::AID-AJMG15>3.0.CO;2- H
-
Sex ratios in fetuses and liveborn infants with autosomal aneuploidy. CA Huether RLM Martin SM Stoppelman S D'Souza JK Bishop CP Torfs F Lorey KM May JS Hanna PA Baird JC Kelley, Am J Med Genet 1996 63 492 500 10.1002/(SICI)1096- 8628(19960614)63:3<492::AID-AJMG153.0.CO;2-H 8737659 (Pubitemid 26178754)
-
(1996)
American Journal of Medical Genetics
, vol.63
, Issue.3
, pp. 492-500
-
-
Huether, C.A.1
Martin, R.L.M.2
Stoppelman, S.M.3
D'Souza, S.4
Bishop, J.K.5
Torfs, C.P.6
Lorey, F.7
May, K.M.8
Hanna, J.S.9
Baird, P.A.10
Kelly, J.C.11
-
18
-
-
0033522794
-
Female predominance (low sex ratio) in 47,+21 mosaics
-
10.1002/(SICI)1096-8628(19990604)84:4<316::AID-AJMG23.0.CO;2-1. 10340644
-
Female predominance (low sex ratio) in 47,+21 mosaics. EB Hook PK Cross DE Mutton, Am J Med Genet 1999 84 316 319 10.1002/(SICI)1096-8628(19990604)84: 4<316::AID-AJMG23.0.CO;2-1 10340644
-
(1999)
Am J Med Genet
, vol.84
, pp. 316-319
-
-
Hook, E.B.1
Cross, P.K.2
Mutton, D.E.3
-
19
-
-
77951541560
-
Studies on mosaicism in Down's anomaly
-
Springfield, III: Charles C. Thomas Jervis GA
-
Studies on mosaicism in Down's anomaly. LS Penrose, Mental Retardation Springfield, III: Charles C. Thomas, Jervis GA, 1967
-
(1967)
Mental Retardation
-
-
Penrose, L.S.1
-
20
-
-
0014884642
-
Observations on mosaic parents of mongol propositi
-
4283611
-
Observations on mosaic parents of mongol propositi. BW Richards, J Ment Defic Res 1970 14 342 346 4283611
-
(1970)
J Ment Defic Res
, vol.14
, pp. 342-346
-
-
Richards, B.W.1
-
21
-
-
77951591559
-
Etude génétique des parents d'enfants trisomiques 21
-
Etude génétique des parents d'enfants trisomiques 21. JF Mattei, Thése Médecine, Marseille 1974
-
(1974)
Thése Médecine, Marseille
-
-
Mattei, J.F.1
-
22
-
-
0016341138
-
Investigation of 142 mosaic mongols and mosaic parents of mongols. Cytogenetic analysis and maternal age at birth
-
4282742
-
Investigation of 142 mosaic mongols and mosaic parents of mongols. Cytogenetic analysis and maternal age at birth. BW Richards, J Ment Defic Res 1974 18 199 208 4282742
-
(1974)
J Ment Defic Res
, vol.18
, pp. 199-208
-
-
Richards, B.W.1
-
24
-
-
1042280229
-
Mitotic errors in chromosome 21 of human preimplantation embryo are associated with non-viability
-
10.1093/molehr/gah017. 14742700
-
Mitotic errors in chromosome 21 of human preimplantation embryo are associated with non-viability. MG Katz-Jaffe AO Trounson DS Cram, Mol Hum Reprod 2004 10 143 147 10.1093/molehr/gah017 14742700
-
(2004)
Mol Hum Reprod
, vol.10
, pp. 143-147
-
-
Katz-Jaffe, M.G.1
Trounson, A.O.2
Cram, D.S.3
-
25
-
-
0034803918
-
Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage
-
Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. M Sandalinas S Sadowy M Alikani G Calderon J Cohen S Munné Hum Reprod 2001 16 1954 1958 10.1093/humrep/16.9.1954 11527904 (Pubitemid 32916228)
-
(2001)
Human Reproduction
, vol.16
, Issue.9
, pp. 1954-1958
-
-
Sandalinas, M.1
Sadowy, S.2
Alikani, M.3
Calderon, G.4
Cohen, J.5
Munne, S.6
-
26
-
-
0034019909
-
Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: Detection by fluorescence in situ hybridization on binucleated lymphocytes
-
DOI 10.1007/s004390051005
-
Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleate lymphocytes. Q Shi I-D Adler J Zhang X Zhang X Shan R Martin, Hum Genet 2000 106 29 35 10.1007/s004390051005 10982178 (Pubitemid 30156390)
-
(2000)
Human Genetics
, vol.106
, Issue.1
, pp. 29-35
-
-
Shi, Q.1
Adler, I.-D.2
Zhang, J.3
Zhang, X.4
Shan, X.5
Martin, R.6
-
27
-
-
0032935302
-
Trisomy/tetrasomy 21 mosaicism in CVS: Interpretation of cytogenetic discrepancies between placental and fetal chromosome complements
-
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements. A Soler E Margarit A Carrio D Costa R Queralt F Ballesta, J Med Genet 1999 36 333 334 10227405 (Pubitemid 29161070)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.4
, pp. 333-334
-
-
Soler, A.1
Margarit, E.2
Carrio, A.3
Costa, D.4
Queralt, R.5
Ballesta, F.6
-
28
-
-
0023839766
-
Multiple recurrence of trisomy 21 Down syndrome
-
Multiple recurrence of trisomy 21 Down syndrome. KG Nielsen H Poulsen M Mikkelsen E Steuber, Hum Genet 1988 78 103 105 10.1007/BF00291249 2962924 (Pubitemid 18039540)
-
(1988)
Human Genetics
, vol.78
, Issue.1
, pp. 103-105
-
-
Nielsen, K.G.1
Poulsen, H.2
Mikkelsen, M.3
Steuber, E.4
-
29
-
-
0027357014
-
Structural chromosomal rearrangements and mosaicism in parents of children with Down's syndrome
-
8316960
-
Structural chromosomal rearrangements and mosaicism in parents of children with Down's syndrome. IV Butomo NV Kovaleva, Tsitol Genet 1993 27 87 91 8316960
-
(1993)
Tsitol Genet
, vol.27
, pp. 87-91
-
-
Butomo, I.V.1
Kovaleva, N.V.2
-
30
-
-
77951597340
-
A mosaic trisomy 21 woman with seven trisomy 21 and no cytogenetically normal pregnancies
-
A mosaic trisomy 21 woman with seven trisomy 21 and no cytogenetically normal pregnancies. EJ Ives PW Allderdice PJ Bridge IJ Barrett DK Kalousek MJ Connolly-Wilson MR Crowley, Am J Hum Genet 1997 61 suppl 4 128
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL 4
, pp. 1128
-
-
Ives, E.J.1
Allderdice, P.W.2
Bridge, P.J.3
Barrett, I.J.4
Kalousek, D.K.5
Connolly-Wilson, M.J.6
Crowley, M.R.7
-
31
-
-
0033372428
-
Risk of recurrence of fetal chromosomal aberrations: Analysis of trisomy 21, trisomy 18, trisomy 13, and 45,X in 1076 Japanese mothers
-
Risk of recurrence of fetal chromosomal aberrations: analysis of trisomy 21, trisomy 18, trisomy 13, and 45,X in 1,076 Japanese mothers. S Uehara N Yaegashi T Maeda N Hoshi S Fujimoto K Fujimori K Yanagida M Yamanaka F Hirahara A Yajima, J Obstet Gynaecol Res 1999 25 373 379 10680333 (Pubitemid 30028825)
-
(1999)
Journal of Obstetrics and Gynaecology Research
, vol.25
, Issue.6
, pp. 373-379
-
-
Uehara, S.1
Yaegashi, N.2
Maeda, T.3
Hoshi, N.4
Fujimoto, S.5
Fujimori, K.6
Yanagida, K.7
Yamanaka, M.8
Hirahara, F.9
Yajima, A.10
-
32
-
-
0014941643
-
Further observation of cell selection in vitro in normal/G trisomic mosaics
-
10.1038/227163a0. 4246764
-
Further observation of cell selection in vitro in normal/G trisomic mosaics. AI Taylor, Nature 1970 227 163 164 10.1038/227163a0 4246764
-
(1970)
Nature
, vol.227
, pp. 163-164
-
-
Taylor, A.I.1
-
33
-
-
0022415610
-
Trisomy 21 Down syndrome. Parental mosaicism
-
10.1007/BF00273450. 3160645
-
Trisomy 21 Down syndrome. Parental mosaicism. IA Uchida VCP Freeman, Hum Genet 1985 70 246 248 10.1007/BF00273450 3160645
-
(1985)
Hum Genet
, vol.70
, pp. 246-248
-
-
Uchida, I.A.1
Freeman, V.C.P.2
-
34
-
-
0025653494
-
Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risk
-
10.1002/ajmg.1320370737
-
Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risk. ES Sachs MGJ Jahoda FJ Los L Pijpers JW Wladimiroff, Am J Med Genet 1990 Suppl 7 186 188 10.1002/ajmg.1320370737
-
(1990)
Am J Med Genet
, Issue.SUPPL 7
, pp. 186-188
-
-
Sachs, E.S.1
Jahoda, M.G.J.2
Los, F.J.3
Pijpers, L.4
Wladimiroff, J.W.5
-
35
-
-
0028555884
-
Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism
-
10.1007/BF02335088. 7695369
-
Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism. L-H Tseng SM Chuang T-Y Lee T-M Ko, Arch Gynecol Obstet 1994 255 213 216 10.1007/BF02335088 7695369
-
(1994)
Arch Gynecol Obstet
, vol.255
, pp. 213-216
-
-
Tseng, L.-H.1
Chuang, S.M.2
Lee, T.-Y.3
Ko, T.-M.4
-
36
-
-
0032971825
-
A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception
-
DOI 10.1007/s004390050905
-
A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception. J Cozzi CM Coun J Harper RML Winston M Rindl PA Farndon JDA Delhanty, Hum Genet 1999 104 23 28 10.1007/s004390050905 10071188 (Pubitemid 29134637)
-
(1999)
Human Genetics
, vol.104
, Issue.1
, pp. 23-28
-
-
Cozzi, J.1
Conn, C.M.2
Harper, J.3
Winston, R.M.L.4
Rindl, M.5
Farndon, P.A.6
Delhanty, J.D.A.7
-
37
-
-
33845646696
-
Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: Mechanisms and consequences
-
DOI 10.2174/138920206779116756
-
Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: mechanisms and consequences. IY Iourov SG Vorsanova YB Yurov, Curr Genomics 2006 7 435 446 10.2174/138920206779116756 (Pubitemid 44942065)
-
(2006)
Current Genomics
, vol.7
, Issue.7
, pp. 435-446
-
-
Iourov, I.Y.1
Vorsanova, S.G.2
Yurov, Y.B.3
-
38
-
-
23044448818
-
Sex-specific chromosome instability in early human development
-
DOI 10.1002/ajmg.a.30815
-
Sex-specific instability in early human development. NV Kovaleva, Am J Med Genet 2005 136A 401 413 10.1002/ajmg.a.30815 16001445 (Pubitemid 41076599)
-
(2005)
American Journal of Medical Genetics
, vol.136 A
, Issue.4
, pp. 401-413
-
-
Kovaleva, N.V.1
-
39
-
-
77951554306
-
Mosaicism for unbalanced structural autosome rearrangement: Better prognosis for male carriers
-
15483643
-
Mosaicism for unbalanced structural autosome rearrangement: better prognosis for male carriers. NV Kovaleva PD Cotter, Eur J Hum Genet 2005 13 Suppl 1 171 15483643
-
(2005)
Eur J Hum Genet
, vol.13
, Issue.SUPPL 1
, pp. 171
-
-
Kovaleva, N.V.1
Cotter, P.D.2
-
40
-
-
0029917626
-
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993
-
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. D Mutton E Alberman EB Hook, J Med Genet 1996 33 387 394 10.1136/jmg.33.5.387 8733049 (Pubitemid 26147871)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.5
, pp. 387-394
-
-
Mutton, D.1
Alberman, E.2
Hook, E.B.3
-
42
-
-
18244413336
-
Recurrent trisomy 21 and uniparental disomy 21 in a family
-
DOI 10.1159/000073142
-
Recurrent trisomy 21 and uniparental disomy 21 in a family. Z Ban B Nagy C Papp A Beke E Toth-Pal Z Papp, Fetal Diagn Ther 2003 18 454 458 10.1159/000073142 14564119 (Pubitemid 37329184)
-
(2003)
Fetal Diagnosis and Therapy
, vol.18
, Issue.6
, pp. 454-458
-
-
Ban, Z.1
Nagy, B.2
Papp, C.3
Beke, A.4
Toth-Pal, E.5
Papp, Z.6
-
43
-
-
0026713576
-
DNA polymorphism analysis in families with recurrence of free trisomy 21
-
1415248
-
DNA polymorphism analysis in families with recurrence of free trisomy 21. CG Pangalos CC Talbot Jr JG Lewis PA Adelsberger MB Petersen JL Serre MO Rethore MC de Blois P Parent AA Schinzel F Binkert J Boue E Corbin MF Croquette S Gilgenkrantz J de Grouchy MF Bertheas M Prieur O Raoul F Serville PJ Siffroi F Thepot J Lejeune SE Antonarakis, Am J Hum Genet 1992 51 1015 1027 1415248
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1015-1027
-
-
Pangalos, C.G.1
Talbot Jr., C.C.2
Lewis, J.G.3
Adelsberger, P.A.4
Petersen, M.B.5
Serre, J.L.6
Rethore, M.O.7
De Blois, M.C.8
Parent, P.9
Schinzel, A.A.10
Binkert, F.11
Boue, J.12
Corbin, E.13
Croquette, M.F.14
Gilgenkrantz, S.15
De Grouchy, J.16
Bertheas, M.F.17
Prieur, M.18
Raoul, O.19
Serville, F.20
Siffroi, P.J.21
Thepot, F.22
Lejeune, J.23
Antonarakis, S.E.24
more..
-
44
-
-
0345913705
-
Karyological characterization of Down syndrome: Clinical and theoretical aspects
-
10658271
-
Karyological characterization of Down syndrome: clinical and theoretical aspects. NV Kovaleva IV Butomo DK Verlinskaya TN Ilyashenko IG Pantova MV Prozorova LE Khitrikova SK Shandlorenko, Tsitologiia 1999 41 1014 1021 10658271
-
(1999)
Tsitologiia
, vol.41
, pp. 1014-1021
-
-
Kovaleva, N.V.1
Butomo, I.V.2
Verlinskaya, D.K.3
Ilyashenko, T.N.4
Pantova, I.G.5
Prozorova, M.V.6
Khitrikova, L.E.7
Shandlorenko, S.K.8
-
45
-
-
0034487971
-
Nondisjunction in trisomy 21: Origin and mechanisms
-
Nondisjunction in trisomy 21: origin and mechanisms. MB Petersen M Mikkelsen, Cytogenet Cell Genet 2000 91 199 203 10.1159/000056844 11173856 (Pubitemid 32110365)
-
(2000)
Cytogenetics and Cell Genetics
, vol.91
, Issue.1-4
, pp. 199-203
-
-
Petersen, M.B.1
Mikkelsen, M.2
-
46
-
-
14844304699
-
Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis
-
10.1369/jhc.4A6424.2005. 15750024
-
Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis. SG Vorsanova AD Kolotii IY Iourov VV Monakhov EA Kirillova IV Soloviev YB Yurov, J Histochem Cytochem 2005 53 375 380 10.1369/jhc.4A6424.2005 15750024
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 375-380
-
-
Vorsanova, S.G.1
Kolotii, A.D.2
Iourov, I.Y.3
Monakhov, V.V.4
Kirillova, E.A.5
Soloviev, I.V.6
Yurov, Y.B.7
-
47
-
-
0036323909
-
Maternal trisomy 21 mosaicism and recurrent spontaneous abortion [4]
-
DOI 10.1016/S0015-0282(02)03217-X, PII S001502820203217X
-
Maternal trisomy 21 mosaicism and recurrent spontaneous abortion. P-L Kuo, Fertil Steril 2002 78 432 433 10.1016/S0015-0282(02)03217-X 12137890 (Pubitemid 34831753)
-
(2002)
Fertility and Sterility
, vol.78
, Issue.2
, pp. 432-433
-
-
Kuo, P.-L.1
-
48
-
-
0031799836
-
Maternal age specific risk rate estimates for Down syndrome among live births in whites and other races from Ohio and Metropolitan Atlanta, 1970-1989
-
Maternal age specific risk rate estimates for Down Syndrome among live births in whites and other races from Ohio and Metropolitan Atlanta, 1970-1989. CA Huether J Ivanovich BS Goodwin EL Krivchenia VS Hertzberg LD Edmond DS May JH Priest, J Med Genet 1998 35 482 490 10.1136/jmg.35.6.482 9643290 (Pubitemid 28252157)
-
(1998)
Journal of Medical Genetics
, vol.35
, Issue.6
, pp. 482-490
-
-
Huether, C.A.1
Ivanovich, J.2
Goodwin, B.S.3
Krivchenia, E.L.4
Hertzberg, V.S.5
Edmonds, L.D.6
May, D.S.7
Priest, J.H.8
-
49
-
-
0021749558
-
Advanced grandmaternal age on the mother's side, a risk of giving rise to trisomy 21
-
Advanced grandmaternal age on the mother's side: a risk of giving rise to trisomy 21. L Aagesen J Grinsted M Mikkelsen, Ann Hum Genet 1984 48 297 301 10.1111/j.1469-1809.1984.tb00843.x 6238565 (Pubitemid 15200911)
-
(1984)
Annals of Human Genetics
, vol.48
, Issue.4
, pp. 297-301
-
-
Aagesen, L.1
Grinsted, J.2
Mikkelsen, M.3
-
50
-
-
0027447719
-
Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age
-
DOI 10.1038/ng0293-146
-
Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. SE Antonarakis D Avramopoulos J-L Blouin C Talbot Jr AA Schinzel, Nature Genet 1993 3 146 150 10.1038/ng0293-146 8499948 (Pubitemid 23079797)
-
(1993)
Nature Genetics
, vol.3
, Issue.2
, pp. 146-150
-
-
Antonarakis, S.E.1
Avramopoulos, D.2
Blouin, J.-L.3
Talbot Jr., C.C.4
Schinzel, A.A.5
-
51
-
-
0014604906
-
Down's syndrome transmitted through maternal mosaicism
-
10.1111/j.1651-2227.1969.tb04769.x. 4244880
-
Down's syndrome transmitted through maternal mosaicism. D Aarskog, Acta Paediatr Scand 1969 58 609 614 10.1111/j.1651-2227.1969.tb04769.x 4244880
-
(1969)
Acta Paediatr Scand
, vol.58
, pp. 609-614
-
-
Aarskog, D.1
-
52
-
-
0005145759
-
Mosaicism in a mother with a mongol child
-
10.1136/bmj.2.5301.378. 13869828
-
Mosaicism in a mother with a mongol child. CE Blank E Gemmel MD Casey M Lord, Br Med J 1962 2 378 380 10.1136/bmj.2.5301.378 13869828
-
(1962)
Br Med J
, vol.2
, pp. 378-380
-
-
Blank, C.E.1
Gemmel, E.2
Casey, M.D.3
Lord, M.4
-
53
-
-
0034605363
-
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
-
DOI 10.1002/1096-8628(20000904)94:1<35::AID-AJMG8>3.0.CO;2-9
-
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. H Bruyére R Rupps BD Kuchinka JM Friedman WP Robinson, Am J Med Genet 2000 94 35 41 10.1002/1096-8628(20000904)94:1<35::AID-AJMG83.0.CO;2-9 10982480 (Pubitemid 30629354)
-
(2000)
American Journal of Medical Genetics
, vol.94
, Issue.1
, pp. 35-41
-
-
Bruyre, H.1
Rupps, R.2
Kuchinka, B.D.3
Friedman, J.M.4
Robinson, W.P.5
-
54
-
-
34547763199
-
Second pregnancy of trisomy 21 in a mother with mosaicism
-
Second pregnancy of trisomy 21 in a mother with mosaicism. Y-X Cui L-J Hao Y-H Wang X-Y Xia Y-C Shi H-Y Lu B Yao YF Huang, Chin Med J 2007 120 1295 1296 (Pubitemid 47232923)
-
(2007)
Chinese Medical Journal
, vol.120
, Issue.14
, pp. 1295-1296
-
-
Cui, Y.-X.1
Hao, L.-J.2
Wang, Y.-H.3
Xia, X.-Y.4
Shi, Y.-C.5
Lu, H.-Y.6
Yao, B.7
Huang, Y.-F.8
-
55
-
-
0015471937
-
Cytogenetic studies in families with two 47,+21 siblings
-
4281439
-
Cytogenetic studies in families with two 47,+21 siblings. R Dhadial RA Pfeiffer, J Genet Hum 1972 20 297 322 4281439
-
(1972)
J Genet Hum
, vol.20
, pp. 297-322
-
-
Dhadial, R.1
Pfeiffer, R.A.2
-
57
-
-
67650671795
-
Enfant mongolien - Parent mosaque. Etude de deux families
-
14269571
-
Enfant mongolien - parent mosaque. Etude de deux families. S Ferrier, J Genet Hum 1964 13 315 336 14269571
-
(1964)
J Genet Hum
, vol.13
, pp. 315-336
-
-
Ferrier, S.1
-
58
-
-
0022631771
-
Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division
-
10.1007/BF00278818. 2935477
-
Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division. PH Fitzgerald SA Archer CM Morris, Hum Genet 1986 72 58 62 10.1007/BF00278818 2935477
-
(1986)
Hum Genet
, vol.72
, pp. 58-62
-
-
Fitzgerald, P.H.1
Archer, S.A.2
Morris, C.M.3
-
59
-
-
0037179494
-
Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring
-
DOI 10.1016/S1383-5718(02)00163-8, PII S1383571802001638
-
Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring. S Frias S Ramos B Molina V del Castillo DG Mayen, Mutat Res 2002 520 25 37 (Pubitemid 35247570)
-
(2002)
Mutation Research - Genetic Toxicology and Environmental Mutagenesis
, vol.520
, Issue.1-2
, pp. 25-37
-
-
Frias, S.1
Ramos, S.2
Molina, B.3
Del Castillo, V.4
Mayen, D.G.5
-
61
-
-
77951526043
-
Familial mongolism Mosaicism (47,XX,G+/46,XX) in a mother with two mongol children
-
Wiener Medizinishen Academie
-
Familial mongolism Mosaicism (47,XX,G+/46,XX) in a mother with two mongol children. M Gomirato-Sandrucci C Fabris P Franceschini, Proc XIII Int Congr Pediatrics, Wien, 29 Aug - 4 Sept 1971 Wiener Medizinishen Academie 5 57 68
-
Proc XIII Int Congr Pediatrics, Wien, 29 Aug - 4 Sept 1971
, vol.5
, pp. 57-68
-
-
Gomirato-Sandrucci, M.1
Fabris, C.2
Franceschini, P.3
-
62
-
-
77951563628
-
Double satellites and mosaicism: Counseling dilemmas
-
Double satellites and mosaicism: counseling dilemmas. BA Goodwin BG Kousseff, Am J Hum Genet 1986 39 Suppl 3 177
-
(1986)
Am J Hum Genet
, vol.39
, Issue.SUPPL 3
, pp. 1177
-
-
Goodwin, B.A.1
Kousseff, B.G.2
-
64
-
-
0031869212
-
Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies
-
Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies. RS James K Ellis D Pettay PA Jacobs, Eur J Hum Genet 1998 6 207 212 10.1038/sj.ejhg.5200178 (Pubitemid 28316287)
-
(1998)
European Journal of Human Genetics
, vol.6
, Issue.3
, pp. 207-212
-
-
James, R.S.1
Ellis, K.2
Pettay, D.3
Jacobs, P.A.4
-
65
-
-
0016327501
-
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down syndrome
-
10.1136/jmg.11.4.378. 4140911
-
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down syndrome. S Kaffe LYF Hsu K Hirschhorn, J Med Genet 1974 11 378 381 10.1136/jmg.11.4.378 4140911
-
(1974)
J Med Genet
, vol.11
, pp. 378-381
-
-
Kaffe, S.1
Hsu, L.Y.F.2
Hirschhorn, K.3
-
66
-
-
41049094564
-
Detection of gonadal mosaicism in parents of offspring with Down syndrome
-
Detection of gonadal mosaicism in parents of offspring with Down syndrome. NV Kovaleva M Tahmasebi-Hesari, Tsitol Genet 2007 41 5 36 42 18268965 (Pubitemid 351420853)
-
(2007)
Cytology and Genetics
, vol.41
, Issue.5
, pp. 36-42
-
-
Kovaleva, N.V.1
Tahmasebi-Hesari, M.2
-
67
-
-
0029555772
-
Recurrent regular trisomy 21 in two Bedoin families. Parental mosaicism versus genetic predisposition
-
8629809
-
Recurrent regular trisomy 21 in two Bedoin families. Parental mosaicism versus genetic predisposition. DS Krishna Murthy TI Farag, Ann Genet 1995 38 217 224 8629809
-
(1995)
Ann Genet
, vol.38
, pp. 217-224
-
-
Krishna Murthy, D.S.1
Farag, T.I.2
-
68
-
-
0015225989
-
Secondary nondisjunction causing regular trisomy 21 in the offspring of a mosaic trisomy 21 mother
-
4253289
-
Secondary nondisjunction causing regular trisomy 21 in the offspring of a mosaic trisomy 21 mother. E Krmpotic MB Hardin, Am J Obstet Gynecol 1971 110 589 590 4253289
-
(1971)
Am J Obstet Gynecol
, vol.110
, pp. 589-590
-
-
Krmpotic, E.1
Hardin, M.B.2
-
69
-
-
85009539201
-
Chromosome studies in patients with congenital and hereditary diseases, developmental deficiencies and sexual abnormalities
-
Chromosome studies in patients with congenital and hereditary diseases, developmental deficiencies and sexual abnormalities. S Makino, Cytologia (Tokyo) 1964 29 125
-
(1964)
Cytologia (Tokyo)
, vol.29
, pp. 125
-
-
Makino, S.1
-
70
-
-
0005184113
-
A Danish survey of patients with Down's syndrome born to young mothers
-
10.1111/j.1749-6632.1970.tb39345.x
-
A Danish survey of patients with Down's syndrome born to young mothers. M Mikkelsen, Ann NY Acad Sci 1970 171 370 378 10.1111/j.1749-6632.1970.tb39345.x
-
(1970)
Ann NY Acad Sci
, vol.171
, pp. 370-378
-
-
Mikkelsen, M.1
-
71
-
-
77951524487
-
Diagnosis of genetic disease by amniocentesis during the second trimester of pregnancy
-
Diagnosis of genetic disease by amniocentesis during the second trimester of pregnancy. MRCC, Medical Research Council of Canada, MRCC 1977, Report No. 5. Supply Services, Ottawa, Canada
-
MRCC 1977, Report No. 5. Supply Services, Ottawa, Canada
-
-
Mrcc, M.1
-
72
-
-
0016688158
-
A family with three sibs carrying trisomy 21
-
127545
-
A family with three sibs carrying trisomy 21. F Nuzzo M Stefanini G Simoni L Larizza A Mottura E Reali P Franceschini, Ann Genet 1975 18 111 116 127545
-
(1975)
Ann Genet
, vol.18
, pp. 111-116
-
-
Nuzzo, F.1
Stefanini, M.2
Simoni, G.3
Larizza, L.4
Mottura, A.5
Reali, E.6
Franceschini, P.7
-
73
-
-
0017694342
-
Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism
-
Regular Q21-trisomy in 3 sibs from mother with trisomy 21 mosaicism. A Osuna A Moreno, J Med Genet 1977 14 286 287 10.1136/jmg.14.4.286 (Pubitemid 8175900)
-
(1977)
Journal of Medical Genetics
, vol.14
, Issue.4
, pp. 286-287
-
-
Osuna, A.1
Moreno, A.2
-
74
-
-
0014164681
-
Down syndrome in a boy with mosaicism 46,XY,i(21)/47,XY,+21 and mosaicism 46,XX/47,XX,+21 in his mother
-
4235850
-
Down syndrome in a boy with mosaicism 46,XY,i(21)/47,XY,+21 and mosaicism 46,XX/47,XX,+21 in his mother. A Raichs M Tamparillas, Sangre (Barc) 1967 12 71 80 4235850
-
(1967)
Sangre (Barc)
, vol.12
, pp. 71-80
-
-
Raichs, A.1
Tamparillas, M.2
-
75
-
-
0024333857
-
Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child
-
Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. IF Rowe MAC Ridler FB Gibberd, Lancet 1989 2 229 10.1016/S0140-6736(89)90421-2 2568565 (Pubitemid 19187025)
-
(1989)
Lancet
, vol.2
, Issue.8656
, pp. 229
-
-
Rowe, I.F.1
Ridler, M.A.C.2
Gibberd, F.B.3
-
77
-
-
34548704804
-
Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy
-
DOI 10.1002/pd.1782
-
Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy. ML Street JCK Barber TA Boyle KH Ellis H Bullman T Homfray, Prenat Diagn 2007 27 858 860 10.1002/pd.1782 17554802 (Pubitemid 47425407)
-
(2007)
Prenatal Diagnosis
, vol.27
, Issue.9
, pp. 858-860
-
-
Street, M.L.1
Barber, J.C.K.2
Boyle, T.A.3
Ellis, K.H.4
Bullman, H.5
Homfray, T.6
-
78
-
-
0015445618
-
Difficulty in showing mosaicism in the mother of three mongols
-
10.1136/adc.47.256.970. 4265043
-
Difficulty in showing mosaicism in the mother of three mongols. GR Sutherland MG Fitzgerald DM Danks, Arch Dis Child 1972 47 970 971 10.1136/adc.47.256.970 4265043
-
(1972)
Arch Dis Child
, vol.47
, pp. 970-971
-
-
Sutherland, G.R.1
Fitzgerald, M.G.2
Danks, D.M.3
-
79
-
-
0015221591
-
Down's syndrome due to maternal mosaicism, and the value of antenatal diagnosis
-
10.1016/S0140-6736(71)91153-6. 4100461
-
Down's syndrome due to maternal mosaicism, and the value of antenatal diagnosis. J Timson R Harris RL Gadd ME Ferguson-Smith MA Ferguson-Smith, Lancet 1971 1 549 550 10.1016/S0140-6736(71)91153-6 4100461
-
(1971)
Lancet
, vol.1
, pp. 549-550
-
-
Timson, J.1
Harris, R.2
Gadd, R.L.3
Ferguson-Smith, M.E.4
Ferguson-Smith, M.A.5
-
80
-
-
0005144889
-
Mosaic trisomy in phenotypically normal mother of a mongol
-
10.1016/S0140-6736(64)92912-5. 14100186
-
Mosaic trisomy in phenotypically normal mother of a mongol. H Verresen H Van den Berghe J Creemers, Lancet 1964 1 526 527 10.1016/S0140-6736(64)92912-5 14100186
-
(1964)
Lancet
, vol.1
, pp. 526-527
-
-
Verresen, H.1
Van Den Berghe, H.2
Creemers, J.3
-
81
-
-
0005233421
-
Maternal mosaicism and Down's syndrome (mongolism)
-
10.1016/S0022-3476(63)80370-4. 14074418
-
Maternal mosaicism and Down's syndrome (mongolism). ED Weinstein J Warkany, J Pediatr 1963 63 599 604 10.1016/S0022-3476(63)80370-4 14074418
-
(1963)
J Pediatr
, vol.63
, pp. 599-604
-
-
Weinstein, E.D.1
Warkany, J.2
-
85
-
-
0015550778
-
Paternal trisomy 21 mosaicism and Down's anomaly
-
4266542
-
Paternal trisomy 21 mosaicism and Down's anomaly. K Mehés, Humangenetik 1973 17 297 300 4266542
-
(1973)
Humangenetik
, vol.17
, pp. 297-300
-
-
Mehés, K.1
-
86
-
-
0016231572
-
Paternal normal-trisomy 21 mosaicism as an indication for amniocentesis
-
4279154
-
Paternal normal-trisomy 21 mosaicism as an indication for amniocentesis. Z Papp K Csecsei J Skapinyecz B Dolhay, Clin Genet 1974 6 192 194 4279154
-
(1974)
Clin Genet
, vol.6
, pp. 192-194
-
-
Papp, Z.1
Csecsei, K.2
Skapinyecz, J.3
Dolhay, B.4
-
87
-
-
76549166341
-
Genetic studies and chromosomal analyses in families with mongolism (Down's syndrome) in more than one member
-
Genetic studies and chromosomal analyses in families with mongolism (Down's syndrome) in more than one member. HC Soltan RG Wiens FP Sergovich, Acta Genet (Basel) 1964 14 251 264
-
(1964)
Acta Genet (Basel)
, vol.14
, pp. 251-264
-
-
Soltan, H.C.1
Wiens, R.G.2
Sergovich, F.P.3
-
89
-
-
0014675645
-
Mosaic Down's syndrome in a father and daughter
-
10.1016/S0140-6736(69)91340-3. 4179392
-
Mosaic Down's syndrome in a father and daughter. FA Walker R Ising, Lancet 1969 1 374 10.1016/S0140-6736(69)91340-3 4179392
-
(1969)
Lancet
, vol.1
, pp. 374
-
-
Walker, F.A.1
Ising, R.2
|