-
1
-
-
0024421774
-
The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987
-
Vejerslev LO, Mikkelsen M: The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987. Prenat Diagn 1989; 9: 575-588.
-
(1989)
Prenat Diagn
, vol.9
, pp. 575-588
-
-
Vejerslev, L.O.1
Mikkelsen, M.2
-
2
-
-
0025767956
-
Medical Research Council European trial of chorionic villus sampling: Medical Research Council working party on the evaluation of chorionic villus sampling
-
Medical Research Council working party on the evaluation of chorionic villus sampling: Medical Research Council European trial of chorionic villus sampling. Lancet 1991; 337: 1491-1499.
-
(1991)
Lancet
, vol.337
, pp. 1491-1499
-
-
-
3
-
-
0026856030
-
Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples
-
Teshima IE, Kalousek DK, Vekemans MJ et al: Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples. Prenat Diagn 1992; 12: 443-466.
-
(1992)
Prenat Diagn
, vol.12
, pp. 443-466
-
-
Teshima, I.E.1
Kalousek, D.K.2
Vekemans, M.J.3
-
4
-
-
0026682553
-
Cytogenetic results from the US Collaborative Study on CVS
-
Ledbetter DH, Zachary JM, Simpson JL et al: Cytogenetic results from the US Collaborative Study on CVS. Prenat Diagn 1992; 12: 317-345.
-
(1992)
Prenat Diagn
, vol.12
, pp. 317-345
-
-
Ledbetter, D.H.1
Zachary, J.M.2
Simpson, J.L.3
-
5
-
-
0027179033
-
Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies
-
Smidt-Jensen S, Lind AM, Permin M, Zachary JM, Lundsteen C, Philip J: Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies. Prenat Diagn 1993; 13: 723-740.
-
(1993)
Prenat Diagn
, vol.13
, pp. 723-740
-
-
Smidt-Jensen, S.1
Lind, A.M.2
Permin, M.3
Zachary, J.M.4
Lundsteen, C.5
Philip, J.6
-
6
-
-
0027531981
-
Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases
-
Wang BB, Rubin CH, Williams 3rd J: Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 1993; 13: 179-190.
-
(1993)
Prenat Diagn
, vol.13
, pp. 179-190
-
-
Wang, B.B.1
Rubin, C.H.2
Williams III, J.3
-
7
-
-
0028244914
-
Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of UK data
-
Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis:
-
Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis: Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of UK data. Prenatal Diagn 1994; 14: 363-379.
-
(1994)
Prenatal Diagn
, vol.14
, pp. 363-379
-
-
-
8
-
-
0028290914
-
Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective UK collaborative survey
-
Wolstenholme J, Rooney DE, Davison EV: Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective UK collaborative survey. Prenat Diagn 1994; 14: 345-361.
-
(1994)
Prenat Diagn
, vol.14
, pp. 345-361
-
-
Wolstenholme, J.1
Rooney, D.E.2
Davison, E.V.3
-
9
-
-
21644432644
-
Reevaluating confined placental mosaicism
-
Stetten G, Escallon CS, South ST, McMichael JL, Saul DO, Blakemore KJ: Reevaluating confined placental mosaicism. Am J Med Genet 2004; 131: 232-239.
-
(2004)
Am J Med Genet
, vol.131
, pp. 232-239
-
-
Stetten, G.1
Escallon, C.S.2
South, S.T.3
McMichael, J.L.4
Saul, D.O.5
Blakemore, K.J.6
-
10
-
-
0026540405
-
Does confined placental mosaicism affect the fetus?
-
Simoni G, Fraccaro M: Does confined placental mosaicism affect the fetus? Hum Reprod 1992; 7: 139-140.
-
(1992)
Hum Reprod
, vol.7
, pp. 139-140
-
-
Simoni, G.1
Fraccaro, M.2
-
11
-
-
0026560379
-
Spontaneous abortion and confined chromosomal mosaicism
-
Kalousek DK, Barrett IJ, Gartner AB: Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 1992; 88: 642-646.
-
(1992)
Hum Genet
, vol.88
, pp. 642-646
-
-
Kalousek, D.K.1
Barrett, I.J.2
Gartner, A.B.3
-
12
-
-
0028675022
-
Confined placental mosaicism
-
Simoni G, Sirchia SM: Confined placental mosaicism. Prenat Diagn 1994; 14: 1185-1189.
-
(1994)
Prenat Diagn
, vol.14
, pp. 1185-1189
-
-
Simoni, G.1
Sirchia, S.M.2
-
13
-
-
16944367292
-
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblasts, and increased risk of fetal intrauterine growth restriction
-
Robinson WP, Barrett IJ, Bernard L et al: Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblasts, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 1997; 60: 917-927.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 917-927
-
-
Robinson, W.P.1
Barrett, I.J.2
Bernard, L.3
-
14
-
-
0025773075
-
Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection
-
Engel E, DeLozier-Blanchet CD: Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection. Am J Med Genet 1991; 40: 432-439.
-
(1991)
Am J Med Genet
, vol.40
, pp. 432-439
-
-
Engel, E.1
DeLozier-Blanchet, C.D.2
-
15
-
-
0034049607
-
Pathogenesis of chromosomal mosaicism and its effect on early human development
-
Kalousek DK: Pathogenesis of chromosomal mosaicism and its effect on early human development. Am J Med Genet 2000; 91: 39-45.
-
(2000)
Am J Med Genet
, vol.91
, pp. 39-45
-
-
Kalousek, D.K.1
-
16
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence JE, Perciaccante RG, Greig GM et al: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988; 42: 217-226.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
-
17
-
-
0024463137
-
Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A et al: Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 1989; 45: 373-380.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
-
19
-
-
0028676108
-
Genomic imprinting related to prenatal diagnosis
-
Kalousek DK, Barrett I: Genomic imprinting related to prenatal diagnosis. Prenat Diagn 1994; 14: 1191-1201.
-
(1994)
Prenat Diagn
, vol.14
, pp. 1191-1201
-
-
Kalousek, D.K.1
Barrett, I.2
-
20
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Spec No 1757-1764
-
Ledbetter DH, Engel E: UDiparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995; 4: Spec No 1757-1764.
-
(1995)
Hum Mol Genet
, vol.4
-
-
Ledbetter, D.H.1
Engel, E.2
-
21
-
-
0036258112
-
Uniparental disomy: Clinical indications for testing in growth retardation
-
Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA: Uniparental disomy: Clinical indications for testing in growth retardation. Eur J Pediatr 2002; 161: 305-312.
-
(2002)
Eur J Pediatr
, vol.161
, pp. 305-312
-
-
Eggermann, T.1
Zerres, K.2
Eggermann, K.3
Moore, G.4
Wollmann, H.A.5
-
22
-
-
0034175850
-
Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas
-
Grati FR, Sirchia SM, Garagiola I et al: Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas. Cancer Genet Cytogenet 2000; 118: 57-61.
-
(2000)
Cancer Genet Cytogenet
, vol.118
, pp. 57-61
-
-
Grati, F.R.1
Sirchia, S.M.2
Garagiola, I.3
-
23
-
-
0030941126
-
European collaborative research on mosaicism in CVS (EUCROMIC) - Fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy
-
Hahnemann JM, Vejerslev LO: European collaborative research on mosaicism in CVS (EUCROMIC) - fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet 1997; 70: 179-187.
-
(1997)
Am J Med Genet
, vol.70
, pp. 179-187
-
-
Hahnemann, J.M.1
Vejerslev, L.O.2
-
24
-
-
4043080589
-
Issues arising from the prenatal diagnosis of some rare trisomy mosaics - The importance of cryptic fetal mosaicism
-
Daniel A, Wu Z, Darmanian A et al: Issues arising from the prenatal diagnosis of some rare trisomy mosaics - the importance of cryptic fetal mosaicism. Prenat Diagn 2004; 24: 524-536.
-
(2004)
Prenat Diagn
, vol.24
, pp. 524-536
-
-
Daniel, A.1
Wu, Z.2
Darmanian, A.3
-
25
-
-
0032863575
-
The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: Experience from the ACC UK Collaborative Study
-
Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party
-
Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J: The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC UK Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. Prenat Diagn 1999; 19: 817-826.
-
(1999)
Prenat Diagn
, vol.19
, pp. 817-826
-
-
Smith, K.1
Lowther, G.2
Maher, E.3
Hourihan, T.4
Wilkinson, T.5
Wolstenholme, J.6
-
26
-
-
0025779063
-
Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies
-
Miny P, Hammer P, Gerlach B et al: Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies. Prenat Diagn 1991; 11: 581-589.
-
(1991)
Prenat Diagn
, vol.11
, pp. 581-589
-
-
Miny, P.1
Hammer, P.2
Gerlach, B.3
-
27
-
-
0028925188
-
An audit of trisomy 16 in man
-
Wolstenholme J: An audit of trisomy 16 in man. Prenat Diagn 1995; 15: 109-121.
-
(1995)
Prenat Diagn
, vol.15
, pp. 109-121
-
-
Wolstenholme, J.1
-
28
-
-
0029950129
-
Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization
-
Wolstenholme J: Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn 1996; 16: 511-524.
-
(1996)
Prenat Diagn
, vol.16
, pp. 511-524
-
-
Wolstenholme, J.1
-
29
-
-
0028094977
-
Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype
-
Sirchia SM, De Andreis C, Pariani S et al: Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/ 47,XX,+14 karyotype. Hum Genet 1994; 94: 355-358.
-
(1994)
Hum Genet
, vol.94
, pp. 355-358
-
-
Sirchia, S.M.1
De Andreis, C.2
Pariani, S.3
-
30
-
-
0032999595
-
Maternal uniparental isodisomy for chromosome 14 detected prenatally
-
Ralph A, Scott F, Tiernan C et al: Maternal uniparental isodisomy for chromosome 14 detected prenatally. Prenat Diagn 1999; 19: 681-684.
-
(1999)
Prenat Diagn
, vol.19
, pp. 681-684
-
-
Ralph, A.1
Scott, F.2
Tiernan, C.3
-
31
-
-
0033504298
-
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
-
Fokstuen S, Ginsburg C, Zachmann M, Schinzel A: Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. J Pediatr 1999; 134: 689-695.
-
(1999)
J Pediatr
, vol.134
, pp. 689-695
-
-
Fokstuen, S.1
Ginsburg, C.2
Zachmann, M.3
Schinzel, A.4
-
32
-
-
0033922327
-
Maternal uniparental heterodisomy of chromosome 14: Chromosomal mechanism and clinical follow up
-
Sanlaville D, Aubry MC, Dumez Y et al: Maternal uniparental heterodisomy of chromosome 14: Chromosomal mechanism and clinical follow up. J Med Genet 2000; 37: 525-528.
-
(2000)
J Med Genet
, vol.37
, pp. 525-528
-
-
Sanlaville, D.1
Aubry, M.C.2
Dumez, Y.3
-
33
-
-
0034992754
-
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction
-
Towner DR, Shaffer LG, Yang SP, Walgenbach DD: Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat Diagn 2001; 21: 395-398.
-
(2001)
Prenat Diagn
, vol.21
, pp. 395-398
-
-
Towner, D.R.1
Shaffer, L.G.2
Yang, S.P.3
Walgenbach, D.D.4
-
34
-
-
19944384276
-
Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty
-
Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P et al: Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty. Am J Med Genet A 2005; 135: 336-338.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 336-338
-
-
Aretz, S.1
Raff, R.2
Woelfle, J.3
Zerres, K.4
Esser, M.5
Propping, P.6
-
35
-
-
3142687470
-
Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
-
Cox H, Bullman H, Temple IK: Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. Am J Med Genet A 2004; 127: 21-25.
-
(2004)
Am J Med Genet A
, vol.127
, pp. 21-25
-
-
Cox, H.1
Bullman, H.2
Temple, I.K.3
-
36
-
-
0032850551
-
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
-
Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RM, Stolte-Dijkstra I: Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet 1999; 36: 782-785.
-
(1999)
J Med Genet
, vol.36
, pp. 782-785
-
-
Hordijk, R.1
Wierenga, H.2
Scheffer, H.3
Leegte, B.4
Hofstra, R.M.5
Stolte-Dijkstra, I.6
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