-
2
-
-
0026445152
-
Association between confined placental trisomy, fetal uniparental disoray, and early intrauterine growth retardation
-
Bennett P, Vaughan J, Henderson D, Loughna S, Moore G (1992b): Association between confined placental trisomy, fetal uniparental disoray, and early intrauterine growth retardation. Lancet 340: 1284-1285.
-
(1992)
Lancet
, vol.340
, pp. 1284-1285
-
-
Bennett, P.1
Vaughan, J.2
Henderson, D.3
Loughna, S.4
Moore, G.5
-
3
-
-
0025360413
-
The predictive value of cytogenetic diagnosis after CVS: 1500 cases
-
Breed ASPM, Mantingh A, Beekhuis JR, Kloosterman MD, Bolscher HT, Anders GJPA (1990): The predictive value of cytogenetic diagnosis after CVS: 1500 cases. Prenat Diagn 10:101-110.
-
(1990)
Prenat Diagn
, vol.10
, pp. 101-110
-
-
Breed, A.S.P.M.1
Mantingh, A.2
Beekhuis, J.R.3
Kloosterman, M.D.4
Bolscher, H.T.5
Anders, G.J.P.A.6
-
4
-
-
0026629938
-
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
-
Cassidy SB, Lai L-W, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J (1992): Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 701-708
-
-
Cassidy, S.B.1
Lai, L.-W.2
Erickson, R.P.3
Magnuson, L.4
Thomas, E.5
Gendron, R.6
Herrmann, J.7
-
5
-
-
0019798833
-
A case of trisomy of chromosome 15
-
Coldwell S, Fitzgerald B, Semmens JM, Ede R, Bateman C (1981): A case of trisomy of chromosome 15. J Med Genet 18:146-148.
-
(1981)
J Med Genet
, vol.18
, pp. 146-148
-
-
Coldwell, S.1
Fitzgerald, B.2
Semmens, J.M.3
Ede, R.4
Bateman, C.5
-
6
-
-
0023840501
-
An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue
-
Crane JP, Cheung SW (1988): An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn 8:119-129.
-
(1988)
Prenat Diagn
, vol.8
, pp. 119-129
-
-
Crane, J.P.1
Cheung, S.W.2
-
7
-
-
0026450716
-
Uniparental disomy with normal phenotype
-
Dworniczak B, Koppers B, Kurlemann G, Holzgreve W, Horst J, Miny P (1992): Uniparental disomy with normal phenotype. Lancet 340:1285.
-
(1992)
Lancet
, vol.340
, pp. 1285
-
-
Dworniczak, B.1
Koppers, B.2
Kurlemann, G.3
Holzgreve, W.4
Horst, J.5
Miny, P.6
-
8
-
-
0025086138
-
Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage
-
Eiben B, Bartels I, Bähr-Porsch S, Borgmann S, Gatz G, Gellert G, Goebel R, Hammans W, Hentemann M, Osmers R, Rauskolb R, Hansmann I (1990): Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 47:656-663.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 656-663
-
-
Eiben, B.1
Bartels, I.2
Bähr-Porsch, S.3
Borgmann, S.4
Gatz, G.5
Gellert, G.6
Goebel, R.7
Hammans, W.8
Hentemann, M.9
Osmers, R.10
Rauskolb, R.11
Hansmann, I.12
-
9
-
-
2842532345
-
-
GEW Walstenholm and R Porter (eds): London: J and A Churchill
-
Ford CE (1967): In GEW Walstenholm and R Porter (eds): "Mongolism, CIBA Foundation Study Group No. 25." London: J and A Churchill, pp 71-72.
-
(1967)
Mongolism, CIBA Foundation Study Group No. 25
, pp. 71-72
-
-
Ford, C.E.1
-
10
-
-
0020597691
-
Prenatal diagnosis, fetal pathology and cytogenetic analysis of a 46,XX/47,XX,+15 mosaic
-
Gimelli G, Cuoco C, Porro E (1983): Prenatal diagnosis, fetal pathology and cytogenetic analysis of a 46,XX/47,XX,+15 mosaic. Prenat Diagn 3:75-79.
-
(1983)
Prenat Diagn
, vol.3
, pp. 75-79
-
-
Gimelli, G.1
Cuoco, C.2
Porro, E.3
-
11
-
-
0019995804
-
Mosaic trisomies in human spontaneous abortions
-
Hassold T (1982): Mosaic trisomies in human spontaneous abortions. Hum Genet 61:31-35.
-
(1982)
Hum Genet
, vol.61
, pp. 31-35
-
-
Hassold, T.1
-
14
-
-
2842577963
-
Analysis of non-disjunction in human autosomal trisomies
-
Lott I, McCoy E (eds): New York: Wiley-Liss
-
Hassold T, Freeman S, Phillips C, Sherman S, Takaesu N (1992): Analysis of non-disjunction in human autosomal trisomies. In Lott I, McCoy E (eds): "Down Syndrome: Advances in Medical Care." New York: Wiley-Liss, pp 23-34.
-
(1992)
Down Syndrome: Advances in Medical Care
, pp. 23-34
-
-
Hassold, T.1
Freeman, S.2
Phillips, C.3
Sherman, S.4
Takaesu, N.5
-
15
-
-
0024398336
-
Analysis of non-disjunction in human trisomie spontaneous abortions
-
Hassold TJ, Epstein CJ (eds): New York: Alan R. Liss, Inc.
-
Hassold TJ, Takaesu N (1989): Analysis of non-disjunction in human trisomie spontaneous abortions. In Hassold TJ, Epstein CJ (eds): "Molecular and Cytogenetic Studies of Non-Disjunction." New York: Alan R. Liss, Inc., pp 115-134.
-
(1989)
Molecular and Cytogenetic Studies of Non-Disjunction
, pp. 115-134
-
-
Hassold, T.J.1
Takaesu, N.2
-
16
-
-
0022637865
-
Chorionic villus sampling: Experience of the first 1000 cases
-
Hogge WA, Schonberg SA, Golbus MS (1986): Chorionic villus sampling: Experience of the first 1000 cases. Am J Obst Gynecol 154: 1249-1252.
-
(1986)
Am J Obst Gynecol
, vol.154
, pp. 1249-1252
-
-
Hogge, W.A.1
Schonberg, S.A.2
Golbus, M.S.3
-
17
-
-
0018887287
-
Anatomic and chromosomal anomalies in 639 spontaneous bortuses
-
Kajii T, Ferner A, Niikawa N, Takahara H, Ohama K, Avirachan S (1980): Anatomic and chromosomal anomalies in 639 spontaneous bortuses. Hum Genet 55:87-98.
-
(1980)
Hum Genet
, vol.55
, pp. 87-98
-
-
Kajii, T.1
Ferner, A.2
Niikawa, N.3
Takahara, H.4
Ohama, K.5
Avirachan, S.6
-
18
-
-
0025991931
-
Confirmation of CVS mosaicism in term placenta and high frequency of intrauterine growth retardation association with confined placental mosaicism
-
Kalousek DK, Howard-Peebles PN, Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD (1991): Confirmation of CVS mosaicism in term placenta and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 11:743-750.
-
(1991)
Prenat Diagn
, vol.11
, pp. 743-750
-
-
Kalousek, D.K.1
Howard-Peebles, P.N.2
Olson, S.B.3
Barrett, I.J.4
Dorfmann, A.5
Black, S.H.6
Schulman, J.D.7
Wilson, R.D.8
-
19
-
-
0002711242
-
Mosaicism confined to chorionic tissue in human gestations
-
Fraccaro M, Simoni G, Brambati B (eds): Berlin: Springer-Verlag
-
Kalousek DK (1985): Mosaicism confined to chorionic tissue in human gestations. In Fraccaro M, Simoni G, Brambati B (eds): "First Trimester Fetal Diagnosis." Berlin: Springer-Verlag, pp 130-136.
-
(1985)
First Trimester Fetal Diagnosis
, pp. 130-136
-
-
Kalousek, D.K.1
-
20
-
-
2842517682
-
Mixed karyotypes obtained by chorionic villi analysis: Mosaicism and maternal contamination
-
Fraccaro M, Simoni G, Brambati B (eds): Berlin: Springer-Verlag
-
Karkut I, Zakrzewski S, Sperling K (1985): Mixed karyotypes obtained by chorionic villi analysis: Mosaicism and maternal contamination. In Fraccaro M, Simoni G, Brambati B (eds): "First Trimester Fetal Diagnosis." Berlin: Springer-Verlag, pp 144-146.
-
(1985)
First Trimester Fetal Diagnosis
, pp. 144-146
-
-
Karkut, I.1
Zakrzewski, S.2
Sperling, K.3
-
21
-
-
0025961506
-
Trisomy 15 associated with nonimmune hydrops
-
Kuller JA, Laifer SA (1991): Trisomy 15 associated with nonimmune hydrops. Am J Perinatol 8:39-40.
-
(1991)
Am J Perinatol
, vol.8
, pp. 39-40
-
-
Kuller, J.A.1
Laifer, S.A.2
-
22
-
-
0026638252
-
Mosaic trisomy 15 found at amniocentesis
-
Lähdetie J, Lakkala T (1992): Mosaic trisomy 15 found at amniocentesis. Prenat Diagn 12:551-552.
-
(1992)
Prenat Diagn
, vol.12
, pp. 551-552
-
-
Lähdetie, J.1
Lakkala, T.2
-
23
-
-
0021885132
-
Further studies on bivalent chiasma frequency in human males with normal karyotypes
-
Laurie DA, Hulten MA (1985): Further studies on bivalent chiasma frequency in human males with normal karyotypes. Ann Hum Genet 49:189-201.
-
(1985)
Ann Hum Genet
, vol.49
, pp. 189-201
-
-
Laurie, D.A.1
Hulten, M.A.2
-
24
-
-
0026682553
-
Cytogenetic results from the US
-
Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, Mahoney MJ, Desnick RJ, Schulman J, Copeland KL, Verlinsky Y, Yang-Feng T, Schonberg SA, Babu A, Tharapel A, Dorfmann A, Lubs HA, Rhoads GG, Fowler SE, de la Cruz F (1992): Cytogenetic results from the US. Collaborative study on CVS. Prenat Diagn 12:317-345.
-
(1992)
Collaborative Study on CVS. Prenat Diagn
, vol.12
, pp. 317-345
-
-
Ledbetter, D.H.1
Zachary, J.M.2
Simpson, J.L.3
Golbus, M.S.4
Pergament, E.5
Jackson, L.6
Mahoney, M.J.7
Desnick, R.J.8
Schulman, J.9
Copeland, K.L.10
Verlinsky, Y.11
Yang-Feng, T.12
Schonberg, S.A.13
Babu, A.14
Tharapel, A.15
Dorfmann, A.16
Lubs, H.A.17
Rhoads, G.G.18
Fowler, S.E.19
De La Cruz, F.20
more..
-
25
-
-
0022403392
-
Cytogenetic studies on spontaneous abortion: The Calgary experience
-
Lin CC, De Braekeleer M, Jamro H (1985): Cytogenetic studies on spontaneous abortion: the Calgary experience. Can J Genet Cytol 27:565-570.
-
(1985)
Can J Genet Cytol
, vol.27
, pp. 565-570
-
-
Lin, C.C.1
De Braekeleer, M.2
Jamro, H.3
-
26
-
-
0026676193
-
Nondisjunction of chromosome 21: Comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin
-
Lorber BJ, Grantham M, Peters J, Willard HF, Hassold TJ (1992): Nondisjunction of chromosome 21: Comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin. Am J Hum Genet 51:1265-1276.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1265-1276
-
-
Lorber, B.J.1
Grantham, M.2
Peters, J.3
Willard, H.F.4
Hassold, T.J.5
-
27
-
-
0009470409
-
Cytogenetic findings in first trimester chorionic villus biopsies: A collaborative study
-
Fraccaro M, Simoni G, Brambati B (eds): Berlin: Springer-Verlag
-
Mikkelsen M (1985): Cytogenetic findings in first trimester chorionic villus biopsies: A collaborative study. In Fraccaro M, Simoni G, Brambati B (eds): "First Trimester Fetal Diagnosis." Berlin: Springer-Verlag, pp 109-120.
-
(1985)
First Trimester Fetal Diagnosis
, pp. 109-120
-
-
Mikkelsen, M.1
-
28
-
-
2742539743
-
Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant
-
Milunsky JM, Wyandt HE, Amos JA, Kang Z, Huang XL, Elias E, Milunsky A (1994): Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Hum Genet 55:A112 (636).
-
(1994)
Am J Hum Genet
, vol.55
, Issue.636
-
-
Milunsky, J.M.1
Wyandt, H.E.2
Amos, J.A.3
Kang, Z.4
Huang, X.L.5
Elias, E.6
Milunsky, A.7
-
29
-
-
0026057960
-
A cytogenetic study of spontaneous abortions with direct analysis of chorionic villi
-
Ohno M, Maeda T, Matsunobu A (1991): A cytogenetic study of spontaneous abortions with direct analysis of chorionic villi. Obstet Gynecol 77:394-398.
-
(1991)
Obstet Gynecol
, vol.77
, pp. 394-398
-
-
Ohno, M.1
Maeda, T.2
Matsunobu, A.3
-
30
-
-
0026680691
-
Letter to the editor: Uniparental disomy 15 resulting from "correction" of an initial trisomy 15
-
Purvis-Smith SG, Saville T, Manass S, Yip M-Y, Lam-Po-Tang PR, Duffy B, Johnston H, Leigh D, McDonald B (1992): Letter to the editor: Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet 50:1348-1350.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1348-1350
-
-
Purvis-Smith, S.G.1
Saville, T.2
Manass, S.3
Yip, M.-Y.4
Lam-Po-Tang, P.R.5
Duffy, B.6
Johnston, H.7
Leigh, D.8
McDonald, B.9
-
31
-
-
0016341138
-
Investigation of 142 mosaic mongols and mosaic parents of mongols; cytogenetic analysis and maternal age at birth
-
Richards BW (1974): Investigation of 142 mosaic mongols and mosaic parents of mongols; cytogenetic analysis and maternal age at birth. J Ment Defic Res 18:199-208.
-
(1974)
J Ment Defic Res
, vol.18
, pp. 199-208
-
-
Richards, B.W.1
-
32
-
-
0014261195
-
Maternal age influence and zygotic origin in Klinefelter and mongol mosaicism
-
Richards BW (1968): Maternal age influence and zygotic origin in Klinefelter and mongol mosaicism. J Ment Defic Res 12:84-86.
-
(1968)
J Ment Defic Res
, vol.12
, pp. 84-86
-
-
Richards, B.W.1
-
34
-
-
0026353331
-
Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients
-
Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A (1991): Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1219-1234
-
-
Robinson, W.P.1
Bottani, A.2
Yagang, X.3
Balakrishman, J.4
Binkert, F.5
Mächler, M.6
Prader, A.7
Schinzel, A.8
-
35
-
-
0027430806
-
Nondisjunction of chromosome 15: Origin and recombination
-
Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA (1993a): Nondisjunction of chromosome 15: Origin and recombination. Am J Hum Genet 53:740-751.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 740-751
-
-
Robinson, W.P.1
Bernasconi, F.2
Mutirangura, A.3
Ledbetter, D.H.4
Langlois, S.5
Malcolm, S.6
Morris, M.A.7
Schinzel, A.A.8
-
36
-
-
0027872461
-
Increased parental ages and uniparental disomy 15: A paternal age effect?
-
Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA (1993b): Increased parental ages and uniparental disomy 15: A paternal age effect? Eur J Hum Genet 1:280-286.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 280-286
-
-
Robinson, W.P.1
Lorda-Sanchez, I.2
Malcolm, S.3
Langlois, S.4
Schuffenhauer, S.5
Knoblauch, H.6
Horsthemke, B.7
Schinzel, A.A.8
-
37
-
-
0008011759
-
True fetal trisomy 15 mosaicism with maternal uniparental disomy
-
Rocklin ML, Elder FFB, Ledbetter DH, Christian S, Huang B, Rosenberg H, Sheppard C, Wilkins I (1994): True fetal trisomy 15 mosaicism with maternal uniparental disomy. Am J Hum Genet 55:A286 (1677).
-
(1994)
Am J Hum Genet
, vol.55
, Issue.1677
-
-
Rocklin, M.L.1
Elder, F.F.B.2
Ledbetter, D.H.3
Christian, S.4
Huang, B.5
Rosenberg, H.6
Sheppard, C.7
Wilkins, I.8
-
38
-
-
0023227084
-
Chromosome mosaicism confined to chorionic tissue
-
Schulze B, Schlesinger EK, Miller K (1987): Chromosome mosaicism confined to chorionic tissue. Prenat Diagn 7:451-453.
-
(1987)
Prenat Diagn
, vol.7
, pp. 451-453
-
-
Schulze, B.1
Schlesinger, E.K.2
Miller, K.3
-
39
-
-
0022606171
-
First trimester fetal karyotyping: One thousand diagnoses
-
Simoni G, Gimelli G, Cuoco C, Romitti L, Terzoli G, Guerneri S, Rosella F, Pescetto L, Pezzolo A, Porta S, Brambati B, Porro E, Fraccaro M (1986): First trimester fetal karyotyping: One thousand diagnoses. Hum Genet 72:203-209.
-
(1986)
Hum Genet
, vol.72
, pp. 203-209
-
-
Simoni, G.1
Gimelli, G.2
Cuoco, C.3
Romitti, L.4
Terzoli, G.5
Guerneri, S.6
Rosella, F.7
Pescetto, L.8
Pezzolo, A.9
Porta, S.10
Brambati, B.11
Porro, E.12
Fraccaro, M.13
-
40
-
-
0025190806
-
Incidence and timing of pregnancy losses: Relevance to evaluating safety of early prenatal diagnosis
-
Simpson JL (1990): Incidence and timing of pregnancy losses: Relevance to evaluating safety of early prenatal diagnosis. Am J Med Genet 35:165-173.
-
(1990)
Am J Med Genet
, vol.35
, pp. 165-173
-
-
Simpson, J.L.1
-
41
-
-
0002722022
-
Trisomy 15 in a mosaic, doubly aneuploid two year old
-
Stallard R, Sommer A (1989): Trisomy 15 in a mosaic, doubly aneuploid two year old. Am J Hum Genet 45:A92 (0356).
-
(1989)
Am J Hum Genet
, vol.45
, Issue.356
-
-
Stallard, R.1
Sommer, A.2
-
42
-
-
0027981768
-
True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography
-
Sundberg K, Brocks V, Jacobsen JR, Beck B (1994): True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography. Prenat Diagn 14:559-563.
-
(1994)
Prenat Diagn
, vol.14
, pp. 559-563
-
-
Sundberg, K.1
Brocks, V.2
Jacobsen, J.R.3
Beck, B.4
-
43
-
-
0014405766
-
Cell selection in vivo in normal/G trisomic mosaics
-
Taylor AI (1968): Cell selection in vivo in normal/G trisomic mosaics. Nature 219:1028-1030.
-
(1968)
Nature
, vol.219
, pp. 1028-1030
-
-
Taylor, A.I.1
-
44
-
-
0027531981
-
Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases
-
Wang BBT, Rubin CH, Williams J III (1993): Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 13:179-190.
-
(1993)
Prenat Diagn
, vol.13
, pp. 179-190
-
-
Wang, B.B.T.1
Rubin, C.H.2
Williams III, J.3
-
46
-
-
0027937004
-
Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns
-
Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T (1994): Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns. Hum Genet 94:411-417.
-
(1994)
Hum Genet
, vol.94
, pp. 411-417
-
-
Zaragoza, M.V.1
Jacobs, P.A.2
James, R.S.3
Rogan, P.4
Sherman, S.5
Hassold, T.6
|