-
1
-
-
0016065167
-
A cytogenetic survey of 11,680 newborn infants
-
Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 1974;37:359-76.
-
(1974)
Ann Hum Genet
, vol.37
, pp. 359-376
-
-
Jacobs, P.A.1
Melville, M.2
Ratcliffe, S.3
Keay, A.J.4
Syme, J.5
-
2
-
-
0020634258
-
The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
-
Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-7.
-
(1983)
Hum Genet
, vol.64
, pp. 24-27
-
-
Hook, E.B.1
Warburton, D.2
-
3
-
-
0025921769
-
Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
-
Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-3.
-
(1991)
Hum Genet
, vol.87
, pp. 81-83
-
-
Nielsen, J.1
Wohlert, M.2
-
4
-
-
9044238647
-
Prevalence of Turner syndrome in Japan
-
Hibi I, Takano K, eds. Amsterdam: Excerpta Medica
-
Imaizumi K, Kuroki Y. Prevalence of Turner syndrome in Japan. In: Hibi I, Takano K, eds. Basic and clinical approach to Turner syndrome. Amsterdam: Excerpta Medica, 1993:3-6.
-
(1993)
Basic and Clinical Approach to Turner Syndrome
, pp. 3-6
-
-
Imaizumi, K.1
Kuroki, Y.2
-
5
-
-
0028214487
-
Turner's syndrome in Italy: Familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood
-
Bernasconi S, Larizza D, Benso L, Volta C, Vannelli S, Milani S, et al. Turner's syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood. Acta Paediatr 1994;83:292-8.
-
(1994)
Acta Paediatr
, vol.83
, pp. 292-298
-
-
Bernasconi, S.1
Larizza, D.2
Benso, L.3
Volta, C.4
Vannelli, S.5
Milani, S.6
-
6
-
-
0018909585
-
A collaborative study of the aetiology of Turner syndrome
-
Carothers AD, Frackiewicz A, De Mey R, Collyer S, Polani PE, Osztovics M, et al. A collaborative study of the aetiology of Turner syndrome. Ann Hum Gener 1980;43:355-68.
-
(1980)
Ann Hum Gener
, vol.43
, pp. 355-368
-
-
Carothers, A.D.1
Frackiewicz, A.2
De Mey, R.3
Collyer, S.4
Polani, P.E.5
Osztovics, M.6
-
7
-
-
0018736046
-
Inverse maternal age effect in monosomy X
-
Kajii T, Ohama K. Inverse maternal age effect in monosomy X. Hum Genet 1979;51:147-51.
-
(1979)
Hum Genet
, vol.51
, pp. 147-151
-
-
Kajii, T.1
Ohama, K.2
-
8
-
-
0018917387
-
Monosomy X: A chromosomal anomaly associated with young maternal age
-
Warburton D, Kline J, Stein Z, Susser M. Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet 1980;i:167-9.
-
(1980)
Lancet
, vol.1
, pp. 167-169
-
-
Warburton, D.1
Kline, J.2
Stein, Z.3
Susser, M.4
-
9
-
-
0037824207
-
-
Risskov: Denmark
-
Mikkelsen M, Philip J, Lundsteen C, Therkelsen AJ, Petersen GB, Hansen J. Prœnatale undersøgelser i Danmark 1992. Risskov: Denmark, 1992:1-56.
-
(1992)
Prœnatale Undersøgelser i Danmark 1992
, pp. 1-56
-
-
Mikkelsen, M.1
Philip, J.2
Lundsteen, C.3
Therkelsen, A.J.4
Petersen, G.B.5
Hansen, J.6
-
10
-
-
0023905065
-
45,X/46,XY mosaicism: Contrast of prenatal and postnatal diagnosis
-
Wheeler M, Peakman D, Robinson A, Henry G. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis. Am J Med Genet 1988;9:565-71.
-
(1988)
Am J Med Genet
, vol.9
, pp. 565-571
-
-
Wheeler, M.1
Peakman, D.2
Robinson, A.3
Henry, G.4
-
11
-
-
0025177372
-
The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases
-
Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46:156-67.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 156-167
-
-
Chang, H.J.1
Clark, R.D.2
Bachman, H.3
-
13
-
-
0024817810
-
The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: New data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes
-
Hook EB, Topol BB, Cross PK. The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. Am J Hum Genet 1989;45:855-61.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 855-861
-
-
Hook, E.B.1
Topol, B.B.2
Cross, P.K.3
-
14
-
-
0026531326
-
Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
-
Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, et al. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992;88:288-94.
-
(1992)
Hum Genet
, vol.88
, pp. 288-294
-
-
Held, K.R.1
Kerber, S.2
Kaminsky, E.3
Singh, S.4
Goetz, P.5
Seemanova, E.6
-
15
-
-
0026657024
-
Evidence for decreasing quality of semen during past 50 years
-
Carlsen E, Giwercman A, Keiding N, Skakkebaek NE. Evidence for decreasing quality of semen during past 50 years. BMJ 1992;305:609-13.
-
(1992)
BMJ
, vol.305
, pp. 609-613
-
-
Carlsen, E.1
Giwercman, A.2
Keiding, N.3
Skakkebaek, N.E.4
-
17
-
-
0023577485
-
The effect of age on the frequency of sperm chromosomal abnormalities in normal men
-
Martin RH, Rademaker AW. The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am J Hum Genet 1987;41:484-92.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 484-492
-
-
Martin, R.H.1
Rademaker, A.W.2
-
18
-
-
0023930140
-
Cytogenetic and molecular analysis of sex-chromosome monosomy
-
Hassold T, Benham F, Leppert M. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet 1988;42:534-41.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 534-541
-
-
Hassold, T.1
Benham, F.2
Leppert, M.3
-
20
-
-
0024987734
-
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome
-
Jacobs PA, Betts PR, Cockwell AE, Crolla JA, Mackenzie MJ, Robinson DO, et al. A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet 1990;54:209-23.
-
(1990)
Ann Hum Genet
, vol.54
, pp. 209-223
-
-
Jacobs, P.A.1
Betts, P.R.2
Cockwell, A.E.3
Crolla, J.A.4
Mackenzie, M.J.5
Robinson, D.O.6
-
21
-
-
0025281555
-
Study of the parental origin of sexual aneuploidy in ten families using RFLPs
-
Villamar M, Fernandez E, Ayuso C, Ramos C, Benitez J. Study of the parental origin of sexual aneuploidy in ten families using RFLPs. Ann Genet 1990;33:29-31.
-
(1990)
Ann Genet
, vol.33
, pp. 29-31
-
-
Villamar, M.1
Fernandez, E.2
Ayuso, C.3
Ramos, C.4
Benitez, J.5
-
22
-
-
0025974027
-
Analysis of the origin of Turner's syndrome using polymorphic DNA probes
-
Loughlin SA, Redha A, McIver J, Boyd E, Carothers A, Connor JM. Analysis of the origin of Turner's syndrome using polymorphic DNA probes. J Med Genet 1991;28:156-8.
-
(1991)
J Med Genet
, vol.28
, pp. 156-158
-
-
Loughlin, S.A.1
Redha, A.2
McIver, J.3
Boyd, E.4
Carothers, A.5
Connor, J.M.6
-
23
-
-
0026578519
-
Molecular study of 45,X conceptuses: Correlation with clinical findings
-
Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A. Molecular study of 45,X conceptuses: correlation with clinical findings. Am J Med Genet 1992;42:487-90.
-
(1992)
Am J Med Genet
, vol.42
, pp. 487-490
-
-
Lorda-Sanchez, I.1
Binkert, F.2
Maechler, M.3
Schinzel, A.4
-
24
-
-
0029042695
-
Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromsome in 45,X Turner syndrome ascertained cytogenetically
-
Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB, Nielsen J, et al. Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromsome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet 1995;48:6-11.
-
(1995)
Clin Genet
, vol.48
, pp. 6-11
-
-
Larsen, T.1
Gravholt, C.H.2
Tillebeck, A.3
Larsen, H.4
Jensen, M.B.5
Nielsen, J.6
-
25
-
-
0025990010
-
Chromosomal mosaicism: A follow-up study of 39 unselected children found at birth
-
Gravholt CH, Friedrich U, Nielsen J. Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth. Hum Genet 1991;88:49-52.
-
(1991)
Hum Genet
, vol.88
, pp. 49-52
-
-
Gravholt, C.H.1
Friedrich, U.2
Nielsen, J.3
-
26
-
-
0024372066
-
Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated?
-
Kulkarni R, Hawkins J, Bradford WP. Prenatal diagnosis of 45,X/46,XX mosaicism in the fetus. Should the pregnancy be terminated? Prenat Diagn 1989;9:439-41.
-
(1989)
Prenat Diagn
, vol.9
, pp. 439-441
-
-
Kulkarni, R.1
Hawkins, J.2
Bradford, W.P.3
-
27
-
-
0025422427
-
Sex chromosome mosaicism not detected at amniocentesis
-
Roland B, Cox DM, Rudd NL. Sex chromosome mosaicism not detected at amniocentesis. Prenat Diagn 1990;10:333-6.
-
(1990)
Prenat Diagn
, vol.10
, pp. 333-336
-
-
Roland, B.1
Cox, D.M.2
Rudd, N.L.3
-
28
-
-
0024343937
-
Chromosome mosaicism of the placenta - A cause of developmental failure of the fetus?
-
Schwinger E, Seidl E, Klink F, Rehder H. Chromosome mosaicism of the placenta - a cause of developmental failure of the fetus? Prenat Diagn 1989;9:639-47.
-
(1989)
Prenat Diagn
, vol.9
, pp. 639-647
-
-
Schwinger, E.1
Seidl, E.2
Klink, F.3
Rehder, H.4
-
29
-
-
0024342350
-
Resorbed co-twin as an explanation for discrepant chorionic villus results: Non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood
-
Tharapel AT, Elias S, Shulman LP, Seely L, Emerson DS, Simpson JL. Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat Diagn 1989;9:467-72.
-
(1989)
Prenat Diagn
, vol.9
, pp. 467-472
-
-
Tharapel, A.T.1
Elias, S.2
Shulman, L.P.3
Seely, L.4
Emerson, D.S.5
Simpson, J.L.6
-
30
-
-
0024539382
-
The dilemma of chromosomal mosaicism in chorionic villus sampling - 'direct' versus long-term cultures
-
Nisani R, Chemke J, Voss R, Appelman Z, Caspi B, Lewin A, et al. The dilemma of chromosomal mosaicism in chorionic villus sampling - 'direct' versus long-term cultures. Prenat Diagn 1989;9:223-6.
-
(1989)
Prenat Diagn
, vol.9
, pp. 223-226
-
-
Nisani, R.1
Chemke, J.2
Voss, R.3
Appelman, Z.4
Caspi, B.5
Lewin, A.6
-
31
-
-
0024616039
-
False-positive and false-negative cytogenetic findings on chorionic villus sampling letter
-
Tomkins DJ, Vekemans MJ. False-positive and false-negative cytogenetic findings on chorionic villus sampling letter. Prenat Diagn 1989;9:139-40.
-
(1989)
Prenat Diagn
, vol.9
, pp. 139-140
-
-
Tomkins, D.J.1
Vekemans, M.J.2
-
32
-
-
0025779063
-
Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies
-
Miny P, Hammer P, Gerlach B, Tercanli S, Horst J, Holzgreve W, et al. Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies. Prenat Diagn 1991;11:581-9.
-
(1991)
Prenat Diagn
, vol.11
, pp. 581-589
-
-
Miny, P.1
Hammer, P.2
Gerlach, B.3
Tercanli, S.4
Horst, J.5
Holzgreve, W.6
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