-
1
-
-
84981834288
-
The chromosome numbers of man
-
Tijo HJ, Levan A. The chromosome numbers of man. Hereditas 1956;42:1-6.
-
(1956)
Hereditas
, vol.42
, pp. 1-6
-
-
Tijo, H.J.1
Levan, A.2
-
2
-
-
0038346205
-
Études des chromosomes somatiques de neuf enfants mongoliens
-
Lejeune J, Gautier M, Turpin MR. Études des chromosomes somatiques de neuf enfants mongoliens. CR Acad Sci (Paris) 1959;248:302-3.
-
(1959)
CR Acad Sci (Paris)
, vol.248
, pp. 302-303
-
-
Lejeune, J.1
Gautier, M.2
Turpin, M.R.3
-
3
-
-
0028122628
-
Biochemical and ultrasound screening for chromosomal abnormalities
-
Norton ME. Biochemical and ultrasound screening for chromosomal abnormalities. Semin Perinatol 1994;18:256-65.
-
(1994)
Semin Perinatol
, vol.18
, pp. 256-265
-
-
Norton, M.E.1
-
4
-
-
0029436445
-
Antenatal screening for Down syndrome
-
Wald NJ. Antenatal screening for Down syndrome. Prog Clin Biol Res 1995;393:27-42.
-
(1995)
Prog Clin Biol Res
, vol.393
, pp. 27-42
-
-
Wald, N.J.1
-
5
-
-
0026636703
-
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
-
Klinger K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 1992;51:55-65.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 55-65
-
-
Klinger, K.1
Landes, G.2
Shook, D.3
-
6
-
-
0027534753
-
Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
-
Mansfield ES. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993;2:43-50.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 43-50
-
-
Mansfield, E.S.1
-
7
-
-
0028353764
-
Rapid molecular method for prenatal detection of Down's syndrome
-
Pertl B, Yau SC, Sherlock J, et al. Rapid molecular method for prenatal detection of Down's syndrome. Lancet 1994;343:1197-8.
-
(1994)
Lancet
, vol.343
, pp. 1197-1198
-
-
Pertl, B.1
Yau, S.C.2
Sherlock, J.3
-
8
-
-
0030665915
-
Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex
-
Pertl B, Kopp S, Kroisel PM, et al. Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex. Am J Obstet Gynecol 1997;177:899-906.
-
(1997)
Am J Obstet Gynecol
, vol.177
, pp. 899-906
-
-
Pertl, B.1
Kopp, S.2
Kroisel, P.M.3
-
9
-
-
0032721939
-
Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR
-
Cirigliano V, Sherlock J, Conway G, et al. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn 1999;19:1099-103.
-
(1999)
Prenat Diagn
, vol.19
, pp. 1099-1103
-
-
Cirigliano, V.1
Sherlock, J.2
Conway, G.3
-
10
-
-
0034789823
-
Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
-
Cirigliano V, Ejarque M, Canadas MP, et al. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod 2001;7:1001-6.
-
(2001)
Mol Hum Reprod
, vol.7
, pp. 1001-1006
-
-
Cirigliano, V.1
Ejarque, M.2
Canadas, M.P.3
-
11
-
-
0035968604
-
Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
-
Mann K, Fox SP, Abbs SJ, et al. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 2001;358:1057-61.
-
(2001)
Lancet
, vol.358
, pp. 1057-1061
-
-
Mann, K.1
Fox, S.P.2
Abbs, S.J.3
-
12
-
-
0035081439
-
A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy
-
Levett LJ, Liddle S, Meredith R. A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 2001;17:115-8.
-
(2001)
Ultrasound Obstet Gynecol
, vol.17
, pp. 115-118
-
-
Levett, L.J.1
Liddle, S.2
Meredith, R.3
-
14
-
-
0035991645
-
Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes
-
Rahil H, Solassol J, Philippe C, et al. Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet 2002;10:462-6.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 462-466
-
-
Rahil, H.1
Solassol, J.2
Philippe, C.3
-
15
-
-
0036107146
-
Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR
-
Bili C, Divane A, Apessos A, et al. Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat Diagn 2002;22:360-5.
-
(2002)
Prenat Diagn
, vol.22
, pp. 360-365
-
-
Bili, C.1
Divane, A.2
Apessos, A.3
-
16
-
-
59649122688
-
Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture
-
Lau ET, Tang L, Wong C, et al. Assessing discrepant findings between QF-PCR on uncultured prenatal samples and karyotyping on long-term culture. Prenat Diagn 2009;29:151-5.
-
(2009)
Prenat Diagn
, vol.29
, pp. 151-155
-
-
Lau, E.T.1
Tang, L.2
Wong, C.3
-
17
-
-
33845571784
-
Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS
-
Allen SK, Luharia A, Gould CP, et al. Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS. Prenat Diagn 2006;26:1160-7.
-
(2006)
Prenat Diagn
, vol.26
, pp. 1160-1167
-
-
Allen, S.K.1
Luharia, A.2
Gould, C.P.3
-
18
-
-
33750571690
-
Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS
-
Waters JJ, Walsh S, Levett LJ, et al. Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS. Prenat Diagn 2006;26:892-7.
-
(2006)
Prenat Diagn
, vol.26
, pp. 892-897
-
-
Waters, J.J.1
Walsh, S.2
Levett, L.J.3
-
19
-
-
34247230944
-
Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS
-
Waters JJ, Mann K, Grimsley L, et al. Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS. Prenat Diagn 2007;27:332-9.
-
(2007)
Prenat Diagn
, vol.27
, pp. 332-339
-
-
Waters, J.J.1
Mann, K.2
Grimsley, L.3
-
20
-
-
80055077668
-
Incidence of placental mosaicism leading to discrepant results between QF-PCR and karyotyping in 22,825 chorionic villus samples
-
Holgado E, Liddle S, Ballard T, Levett L. Incidence of placental mosaicism leading to discrepant results between QF-PCR and karyotyping in 22, 825 chorionic villus samples. Prenat Diagn 2011;31:1029-38.
-
(2011)
Prenat Diagn
, vol.31
, pp. 1029-1038
-
-
Holgado, E.1
Liddle, S.2
Ballard, T.3
Levett, L.4
-
21
-
-
85046908634
-
Prenatal detection of chromosome disorders
-
Mann K, Ogilvie CM. Prenatal detection of chromosome disorders. Lancet 2001;358:1646.
-
(2001)
Lancet
, vol.358
, pp. 1646
-
-
Mann, K.1
Ogilvie, C.M.2
-
22
-
-
33947431692
-
Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing
-
Mann K, Kabba M, Donaghue C, et al. Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing. Prenat Diagn 2007;27:287-9.
-
(2007)
Prenat Diagn
, vol.27
, pp. 287-289
-
-
Mann, K.1
Kabba, M.2
Donaghue, C.3
-
24
-
-
79952116481
-
Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR
-
Mann K, Petek E, Pertl B. Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR. Methods Mol Biol 2011;688:207-26.
-
(2011)
Methods Mol Biol
, vol.688
, pp. 207-226
-
-
Mann, K.1
Petek, E.2
Pertl, B.3
-
25
-
-
10844248472
-
Detection of aneuploidies by paralogous sequence quantification
-
Deutsch S, Choudhury U, Merla G, et al. Detection of aneuploidies by paralogous sequence quantification. J Med Genet 2004;41:908-15.
-
(2004)
J Med Genet
, vol.41
, pp. 908-915
-
-
Deutsch, S.1
Choudhury, U.2
Merla, G.3
-
26
-
-
13244249913
-
Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
-
Donaghue C, Mann K, Docherty Z, Ogilvie CM. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005;25:65-72.
-
(2005)
Prenat Diagn
, vol.25
, pp. 65-72
-
-
Donaghue, C.1
Mann, K.2
Docherty, Z.3
Ogilvie, C.M.4
-
27
-
-
7744225371
-
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy
-
Mann K, Donaghue C, Fox SP, et al. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004;12:907-15.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 907-915
-
-
Mann, K.1
Donaghue, C.2
Fox, S.P.3
-
28
-
-
59449088851
-
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9years of clinical experience
-
Cirigliano V, Voglino G, Ordonez E, et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9years of clinical experience. Prenat Diagn 2009;29:40-9.
-
(2009)
Prenat Diagn
, vol.29
, pp. 40-49
-
-
Cirigliano, V.1
Voglino, G.2
Ordonez, E.3
-
30
-
-
84859151502
-
-
UK audit of biallelic abnormal PCR results in Chorionic villus samples. Association of Clinical Cytogenetics Spring Meeting, Liverpool. .
-
Waters JJ, Mann K, Ogilvie C. UK audit of biallelic abnormal PCR results in Chorionic villus samples. Association of Clinical Cytogenetics Spring Meeting, Liverpool. 2008.
-
(2008)
-
-
Waters, J.J.1
Mann, K.2
Ogilvie, C.3
-
31
-
-
75649105745
-
Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis
-
Donaghue C, Mann K, Docherty Z, et al. Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis. Prenat Diagn 2010;30:133-7.
-
(2010)
Prenat Diagn
, vol.30
, pp. 133-137
-
-
Donaghue, C.1
Mann, K.2
Docherty, Z.3
-
32
-
-
77952251561
-
Is karyotyping couples experiencing recurrent miscarriage worth the cost?
-
Barber JC, Cockwell AE, Grant E, et al. Is karyotyping couples experiencing recurrent miscarriage worth the cost? BJOG 2010;117:885-8.
-
(2010)
BJOG
, vol.117
, pp. 885-888
-
-
Barber, J.C.1
Cockwell, A.E.2
Grant, E.3
-
33
-
-
28544432673
-
Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
-
Hochstenbach R, Meijer J, van de Brug J, et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005;25:1032-9.
-
(2005)
Prenat Diagn
, vol.25
, pp. 1032-1039
-
-
Hochstenbach, R.1
Meijer, J.2
van de Brug, J.3
-
34
-
-
79954741750
-
Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis
-
Vialard F, Simoni G, Aboura A, et al. Prenatal BACs-on-Beads: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis. Prenat Diagn 2011;31:500-8.
-
(2011)
Prenat Diagn
, vol.31
, pp. 500-508
-
-
Vialard, F.1
Simoni, G.2
Aboura, A.3
-
35
-
-
77950847453
-
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
-
Ahn JW, Mann K, Walsh S, et al. Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Mol Cytogenet 2010;3:9.
-
(2010)
Mol Cytogenet
, vol.3
, pp. 9
-
-
Ahn, J.W.1
Mann, K.2
Walsh, S.3
-
36
-
-
0038066292
-
Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome?
-
Leung WC, Lau ET, Lao TT, Tang MH. Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome? Obstet Gynecol 2003;101:856-61.
-
(2003)
Obstet Gynecol
, vol.101
, pp. 856-861
-
-
Leung, W.C.1
Lau, E.T.2
Lao, T.T.3
Tang, M.H.4
-
37
-
-
14844293140
-
Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR)
-
Ogilvie CM, Donaghue C, Fox SP, et al. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 2005a;53:285-8.
-
(2005)
J Histochem Cytochem
, vol.53
, pp. 285-288
-
-
Ogilvie, C.M.1
Donaghue, C.2
Fox, S.P.3
-
38
-
-
22244465516
-
Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment
-
Caine A, Maltby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 2005;366:123-8.
-
(2005)
Lancet
, vol.366
, pp. 123-128
-
-
Caine, A.1
Maltby, A.E.2
Parkin, C.A.3
-
39
-
-
78650068383
-
Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
-
Gekas J, van den Berg DG, Durand A, et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet 2011;19:3-9.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 3-9
-
-
Gekas, J.1
van den Berg, D.G.2
Durand, A.3
-
40
-
-
32944461753
-
The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing
-
Ogilvie CM, Lashwood A, Chitty L, et al. The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. BJOG 2005b;112:1369-75.
-
(2005)
BJOG
, vol.112
, pp. 1369-1375
-
-
Ogilvie, C.M.1
Lashwood, A.2
Chitty, L.3
-
41
-
-
77952751774
-
QF-PCR as a stand-alone test for prenatal samples: the first 2years' experience in the London region
-
Hills A, Donaghue C, Waters J, et al. QF-PCR as a stand-alone test for prenatal samples: the first 2years' experience in the London region. Prenat Diagn 2010;30:509-17.
-
(2010)
Prenat Diagn
, vol.30
, pp. 509-517
-
-
Hills, A.1
Donaghue, C.2
Waters, J.3
-
42
-
-
58049209891
-
OmniPlex-a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population
-
Putzova M, Pecnova L, Dvorakova L, Soldatova I, Goetz P, Stejskal D. OmniPlex-a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population. Prenat Diagn 2008;28:1214-20.
-
(2008)
Prenat Diagn
, vol.28
, pp. 1214-1220
-
-
Putzova, M.1
Pecnova, L.2
Dvorakova, L.3
Soldatova, I.4
Goetz, P.5
Stejskal, D.6
|