-
1
-
-
84908870735
-
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Meta-analysis
-
Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Meta-analysis. Fetal Diagn Ther 2014; 35: 156-173.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 156-173
-
-
Gil, M.M.1
Akolekar, R.2
Quezada, M.S.3
Bregant, B.4
Nicolaides, K.H.5
-
2
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, Zheng YW, Lun FM, Chan LY, Jin Y, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011; 6: E21791.
-
(2011)
PLoS One
, vol.6
, pp. e21791
-
-
Chen, E.Z.1
Chiu, R.W.2
Sun, H.3
Akolekar, R.4
Chan, K.C.5
Leung, T.Y.6
Jiang, P.7
Zheng, Y.W.8
Lun, F.M.9
Chan, L.Y.10
Jin, Y.11
Go, A.T.12
Lau, E.T.13
To, W.W.14
Leung, W.C.15
Tang, R.Y.16
Au-Yeung, S.K.17
Lam, H.18
Kung, Y.Y.19
Zhang, X.20
Van Vugt, J.M.21
Minekawa, R.22
Tang, M.H.23
Wang, J.24
Oudejans, C.B.25
Lau, T.K.26
Nicolaides, K.H.27
Lo, Y.M.28
more..
-
3
-
-
81755176083
-
Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasma
-
Lim JH, Kim SY, Park SY, Lee SY, Kim MJ, Han YJ, Lee SW, Chung JH, Kim MY, Yang JH, Ryu HM. Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasma. PLoS One 2011; 6: E27709.
-
(2011)
PLoS One
, vol.6
, pp. e27709
-
-
Lim, J.H.1
Kim, S.Y.2
Park, S.Y.3
Lee, S.Y.4
Kim, M.J.5
Han, Y.J.6
Lee, S.W.7
Chung, J.H.8
Kim, M.Y.9
Yang, J.H.10
Ryu, H.M.11
-
4
-
-
79953739378
-
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
-
Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 2011; 17: 510-513.
-
(2011)
Nat Med
, vol.17
, pp. 510-513
-
-
Papageorgiou, E.A.1
Karagrigoriou, A.2
Tsaliki, E.3
Velissariou, V.4
Carter, N.P.5
Patsalis, P.C.6
-
5
-
-
80455137104
-
Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma
-
Zhang M, Li T, Chen J, Li L, Zhou C, Wang Y, Liu W, Zhang Y. Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma. J Huazhong Univ Sci Technolog Med Sci 2011; 31: 687-692.
-
(2011)
J Huazhong Univ Sci Technolog Med Sci
, vol.31
, pp. 687-692
-
-
Zhang, M.1
Li, T.2
Chen, J.3
Li, L.4
Zhou, C.5
Wang, Y.6
Liu, W.7
Zhang, Y.8
-
6
-
-
84861419058
-
Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells
-
Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, Vissers L, Geurts van Kessel A. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther 2012; 12 Suppl 1: S19-26.
-
(2012)
Expert Opin Biol Ther
, vol.12
, pp. S19-S26
-
-
Faas, B.H.1
De Ligt, J.2
Janssen, I.3
Eggink, A.J.4
Wijnberger, L.D.5
Van Vugt, J.M.6
Vissers, L.7
Geurts Van Kessel, A.8
-
7
-
-
84863954202
-
Non-invasive prenatal measurement of the fetal genome
-
Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR. Non-invasive prenatal measurement of the fetal genome. Nature 2012; 487: 320-324.
-
(2012)
Nature
, vol.487
, pp. 320-324
-
-
Fan, H.C.1
Gu, W.2
Wang, J.3
Blumenfeld, Y.J.4
El-Sayed, Y.Y.5
Quake, S.R.6
-
8
-
-
84861553409
-
Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA
-
Liao GJ, Chan KC, Jiang P, Sun H, Leung TY, Chiu RW, Lo YM. Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA. PLoS One 2012; 7: E38154.
-
(2012)
PLoS One
, vol.7
, pp. e38154
-
-
Liao, G.J.1
Chan, K.C.2
Jiang, P.3
Sun, H.4
Leung, T.Y.5
Chiu, R.W.6
Lo, Y.M.7
-
9
-
-
84857502701
-
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
-
Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, Zahn J, Lee K, Shen N, Doshi J, Sun M, Garrison J, Sandler J, Hollemon D, Pattee P, Tomita-Mitchell A, Mitchell M, Stuelpnagel J, Song K, Oliphant A. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012; 32: 3-9.
-
(2012)
Prenat Diagn
, vol.32
, pp. 3-9
-
-
Sparks, A.B.1
Wang, E.T.2
Struble, C.A.3
Barrett, W.4
Stokowski, R.5
McBride, C.6
Zahn, J.7
Lee, K.8
Shen, N.9
Doshi, J.10
Sun, M.11
Garrison, J.12
Sandler, J.13
Hollemon, D.14
Pattee, P.15
Tomita-Mitchell, A.16
Mitchell, M.17
Stuelpnagel, J.18
Song, K.19
Oliphant, A.20
more..
-
10
-
-
84861480719
-
Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms
-
Stumm M, Entezami M, Trunk N, Beck M, Löcherbach J, Wegner RD, Hagen A, Becker R, Hofmann W. Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms. Prenat Diagn 2012; 32: 569-577.
-
(2012)
Prenat Diagn
, vol.32
, pp. 569-577
-
-
Stumm, M.1
Entezami, M.2
Trunk, N.3
Beck, M.4
Löcherbach, J.5
Wegner, R.D.6
Hagen, A.7
Becker, R.8
Hofmann, W.9
-
11
-
-
84866988049
-
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21
-
Tsaliki E, Papageorgiou EA, Spyrou C, Koumbaris G, Kypri E, Kyriakou S, Sotiriou C, Touvana E, Keravnou A, Karagrigoriou A, Lamnissou K, Velissariou V, Patsalis PC. MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21. Prenat Diagn 2012; 32: 996-1001.
-
(2012)
Prenat Diagn
, vol.32
, pp. 996-1001
-
-
Tsaliki, E.1
Papageorgiou, E.A.2
Spyrou, C.3
Koumbaris, G.4
Kypri, E.5
Kyriakou, S.6
Sotiriou, C.7
Touvana, E.8
Keravnou, A.9
Karagrigoriou, A.10
Lamnissou, K.11
Velissariou, V.12
Patsalis, P.C.13
-
12
-
-
84870695892
-
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
-
Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, Ryan A, Sigurjonsson S, Chopra N, Dodd M, Levy B, Rabinowitz M. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012; 32: 1233-1241.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1233-1241
-
-
Zimmermann, B.1
Hill, M.2
Gemelos, G.3
Demko, Z.4
Banjevic, M.5
Baner, J.6
Ryan, A.7
Sigurjonsson, S.8
Chopra, N.9
Dodd, M.10
Levy, B.11
Rabinowitz, M.12
-
13
-
-
84874616358
-
High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
-
Jensen TJ, Zwiefelhofer T, Tim RC, Dz?akula Z? , Kim SK, Mazloom AR, Zhu Z, Tynan J, Lu T, McLennan G, Palomaki GE, Canick JA, Oeth P, Deciu C, van den Boom D, Ehrich M. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One 2013; 8: E57381.
-
(2013)
PLoS One
, vol.8
, pp. e57381
-
-
Jensen, T.J.1
Zwiefelhofer, T.2
Tim, R.C.3
Dzakula, Z.4
Kim, S.K.5
Mazloom, A.R.6
Zhu, Z.7
Tynan, J.8
Lu, T.9
McLennan, G.10
Palomaki, G.E.11
Canick, J.A.12
Oeth, P.13
Deciu, C.14
Van Den Boom, D.15
Ehrich, M.16
-
14
-
-
84880036737
-
Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology
-
Kyriakou S, Kypri E, Spyrou C, Tsaliki E, Velissariou V, Papageorgiou EA, Patsalis PC. Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology. Prenat Diagn 2013; 33: 650-655.
-
(2013)
Prenat Diagn
, vol.33
, pp. 650-655
-
-
Kyriakou, S.1
Kypri, E.2
Spyrou, C.3
Tsaliki, E.4
Velissariou, V.5
Papageorgiou, E.A.6
Patsalis, P.C.7
-
15
-
-
84891451277
-
Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma
-
Lee da E, Kim SY, Lim JH, Park SY, Ryu HM. Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma. PLoS One 2013; 8: E78136.
-
(2013)
PLoS One
, vol.8
, pp. e78136
-
-
Lee Da, E.1
Kim, S.Y.2
Lim, J.H.3
Park, S.Y.4
Ryu, H.M.5
-
16
-
-
84880041572
-
Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing
-
Leung TY, Qu JZ, Liao GJ, Jiang P, Cheng YK, Chan KC, Chiu RW, Lo YM. Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing. Prenat Diagn 2013; 33: 675-681.
-
(2013)
Prenat Diagn
, vol.33
, pp. 675-681
-
-
Leung, T.Y.1
Qu, J.Z.2
Liao, G.J.3
Jiang, P.4
Cheng, Y.K.5
Chan, K.C.6
Chiu, R.W.7
Lo, Y.M.8
-
17
-
-
84887080693
-
Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing ofmaternal plasma DNA
-
Lun FM, Chiu RW, Sun K, Leung TY, Jiang P, Chan KC, Sun H, Lo YM. Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing ofmaternal plasma DNA. Clin Chem 2013; 59: 1583-1594.
-
(2013)
Clin Chem
, vol.59
, pp. 1583-1594
-
-
Lun, F.M.1
Chiu, R.W.2
Sun, K.3
Leung, T.Y.4
Jiang, P.5
Chan, K.C.6
Sun, H.7
Lo, Y.M.8
-
18
-
-
84876934935
-
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy
-
Yuan Y, Jiang F, Hua S, Du B, Hao Y, Ye L, Liu J, Feng K, Huang X, Yi X, Wang W, Yang L, Mu F, Liu C, Liang Y. Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy. Clin Chem 2013; 59: 846-849.
-
(2013)
Clin Chem
, vol.59
, pp. 846-849
-
-
Yuan, Y.1
Jiang, F.2
Hua, S.3
Du, B.4
Hao, Y.5
Ye, L.6
Liu, J.7
Feng, K.8
Huang, X.9
Yi, X.10
Wang, W.11
Yang, L.12
Mu, F.13
Liu, C.14
Liang, Y.15
-
19
-
-
84908178938
-
The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform
-
Jeon YJ, Zhou Y, Li Y, Guo Q, Chen J, Quan S, Zhang A, Zheng H, Zhu X, Lin J, Xu H, Wu A, Park SG, Kim BC, Joo HJ, Chen H, Bhak J. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform. PLoS One 2014; 9: E110240.
-
(2014)
PLoS One
, vol.9
, pp. e110240
-
-
Jeon, Y.J.1
Zhou, Y.2
Li, Y.3
Guo, Q.4
Chen, J.5
Quan, S.6
Zhang, A.7
Zheng, H.8
Zhu, X.9
Lin, J.10
Xu, H.11
Wu, A.12
Park, S.G.13
Kim, B.C.14
Joo, H.J.15
Chen, H.16
Bhak, J.17
-
20
-
-
84901020406
-
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
-
Liao C, Yin AH, Peng CF, Fu F, Yang JX, Li R, Chen YY, Luo DH, Zhang YL, Ou YM, Li J, Wu J, Mai MQ, Hou R, Wu F, Luo H, Li DZ, Liu HL, Zhang XZ, Zhang K. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci U S A 2014; 111: 7415-7420.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. 7415-7420
-
-
Liao, C.1
Yin, A.H.2
Peng, C.F.3
Fu, F.4
Yang, J.X.5
Li, R.6
Chen, Y.Y.7
Luo, D.H.8
Zhang, Y.L.9
Ou, Y.M.10
Li, J.11
Wu, J.12
Mai, M.Q.13
Hou, R.14
Wu, F.15
Luo, H.16
Li, D.Z.17
Liu, H.L.18
Zhang, X.Z.19
Zhang, K.20
more..
-
21
-
-
84898944048
-
Non-invasive detection of fetal trisomy 21 using fetal epigenetic biomarkers with a high CpG density
-
Lim JH, Lee da E, Kim KS, Kim HJ, Lee BY, Park SY, Ahn HK, Lee SW, Kim MY, Ryu HM. Non-invasive detection of fetal trisomy 21 using fetal epigenetic biomarkers with a high CpG density. Clin Chem Lab Med 2014; 52: 641-647.
-
(2014)
Clin Chem Lab Med
, vol.52
, pp. 641-647
-
-
Lim, J.H.1
Lee Da, E.2
Kim, K.S.3
Kim, H.J.4
Lee, B.Y.5
Park, S.Y.6
Ahn, H.K.7
Lee, S.W.8
Kim, M.Y.9
Ryu, H.M.10
-
22
-
-
84905025062
-
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection
-
Wang Y, Wen Z, Shen J, Cheng W, Li J, Qin X, Ma D, Shi Y. Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection. J Hum Genet 2014; 59: 393-396.
-
(2014)
J Hum Genet
, vol.59
, pp. 393-396
-
-
Wang, Y.1
Wen, Z.2
Shen, J.3
Cheng, W.4
Li, J.5
Qin, X.6
Ma, D.7
Shi, Y.8
-
23
-
-
84903816742
-
Genome-wide normalized score: A novel algorithm to detect fetal trisomy 21 during non-invasive prenatal testing
-
Yeang CH, Ma GC, Hsu HW, Lin YS, Chang SM, Cheng PJ, Chen CA, Ni YH, Chen M. Genome-wide normalized score: A novel algorithm to detect fetal trisomy 21 during non-invasive prenatal testing. Ultrasound Obstet Gynecol 2014; 44: 25-30.
-
(2014)
Ultrasound Obstet Gynecol
, vol.44
, pp. 25-30
-
-
Yeang, C.H.1
Ma, G.C.2
Hsu, H.W.3
Lin, Y.S.4
Chang, S.M.5
Cheng, P.J.6
Chen, C.A.7
Ni, Y.H.8
Chen, M.9
-
24
-
-
84902193969
-
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
-
Yu SC, Chan KC, Zheng YW, Jiang P, Liao GJ, SunH, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CB, Nicolaides KH, Chiu RW, Lo YM. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A 2014; 111: 8583-8588.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. 8583-8588
-
-
Yu, S.C.1
Chan, K.C.2
Zheng, Y.W.3
Jiang, P.4
Liao, G.J.5
SunH Akolekar, R.6
Leung, T.Y.7
Go, A.T.8
Van Vugt, J.M.9
Minekawa, R.10
Oudejans, C.B.11
Nicolaides, K.H.12
Chiu, R.W.13
Lo, Y.M.14
-
25
-
-
84919475041
-
Microarray-based cell-free DNA analysis improves noninvasive prenatal testing
-
Juneau K, Bogard PE, Huang S, Mohseni M, Wang ET, Ryvkin P, Kingsley C, Struble CA, Oliphant A, Zahn JM. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn Ther 2014; 36: 282-286.
-
(2014)
Fetal Diagn Ther
, vol.36
, pp. 282-286
-
-
Juneau, K.1
Bogard, P.E.2
Huang, S.3
Mohseni, M.4
Wang, E.T.5
Ryvkin, P.6
Kingsley, C.7
Struble, C.A.8
Oliphant, A.9
Zahn, J.M.10
-
26
-
-
84922720644
-
Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations
-
[Epub ahead of print]
-
Karlsson K, Sahlin E, Iwarsson E, Westgren M, Nordenskjöld M, Linnarsson S. Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations. Genomics 2014; DOI: 10.1016/j.ygeno.2014.12.005. [Epub ahead of print].
-
(2014)
Genomics
-
-
Karlsson, K.1
Sahlin, E.2
Iwarsson, E.3
Westgren, M.4
Nordenskjöld, M.5
Linnarsson, S.6
-
27
-
-
84870688045
-
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
-
Dan S, Wang W, Ren J, Li Y, Hu H, Xu Z, Lau TK, Xie J, Zhao W, Huang H, Xie J, Sun L, Zhang X, Wang W, Liao S, Qiang R, Cao J, Zhang Q, Zhou Y, Zhu H, Zhong M, Guo Y, Lin L, Gao Z, Yao H, Zhang H, Zhao L, Jiang F, Chen F, Jiang H, Li S, Li Y, Wang J, Wang J, Duan T, Su Y, Zhang X. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 2012; 32: 1225-1232.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1225-1232
-
-
Dan, S.1
Wang, W.2
Ren, J.3
Li, Y.4
Hu, H.5
Xu, Z.6
Lau, T.K.7
Xie, J.8
Zhao, W.9
Huang, H.10
Xie, J.11
Sun, L.12
Zhang, X.13
Wang, W.14
Liao, S.15
Qiang, R.16
Cao, J.17
Zhang, Q.18
Zhou, Y.19
Zhu, H.20
Zhong, M.21
Guo, Y.22
Lin, L.23
Gao, Z.24
Yao, H.25
Zhang, H.26
Zhao, L.27
Jiang, F.28
Chen, F.29
Jiang, H.30
Li, S.31
Li, Y.32
Wang, J.33
Wang, J.34
Duan, T.35
Su, Y.36
Zhang, X.37
more..
-
28
-
-
84866370851
-
Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience
-
Lau TK, Chan MK, Lo PS, Chan HY, Chan WS, Koo TY, Ng HY, Pooh RK. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med 2012; 25: 1856-1859.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1856-1859
-
-
Lau, T.K.1
Chan, M.K.2
Lo, P.S.3
Chan, H.Y.4
Chan, W.S.5
Koo, T.Y.6
Ng, H.Y.7
Pooh, R.K.8
-
29
-
-
84878150323
-
Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population
-
Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013; 33: 580-583.
-
(2013)
Prenat Diagn
, vol.33
, pp. 580-583
-
-
Fairbrother, G.1
Johnson, S.2
Musci, T.J.3
Song, K.4
-
30
-
-
84878120833
-
Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
-
Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013; 33: 569-574.
-
(2013)
Prenat Diagn
, vol.33
, pp. 569-574
-
-
Futch, T.1
Spinosa, J.2
Bhatt, S.3
De Feo, E.4
Rava, R.P.5
Sehnert, A.J.6
-
31
-
-
84879498242
-
Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies
-
Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013; 42: 34-40.
-
(2013)
Ultrasound Obstet Gynecol
, vol.42
, pp. 34-40
-
-
Gil, M.M.1
Quezada, M.S.2
Bregant, B.3
Ferraro, M.4
Nicolaides, K.H.5
-
32
-
-
84905091660
-
A single center's experience with noninvasive prenatal testing
-
Beamon CJ, Hardisty EE, Harris SC, Vora NL. A single center's experience with noninvasive prenatal testing. Genet Med 2014; 16: 681-687.
-
(2014)
Genet Med
, vol.16
, pp. 681-687
-
-
Beamon, C.J.1
Hardisty, E.E.2
Harris, S.C.3
Vora, N.L.4
-
33
-
-
84908296065
-
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing
-
Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014; 211: 527.e1-527.e17.
-
(2014)
Am J Obstet Gynecol
, vol.211
, pp. 527e1-527e17
-
-
Dar, P.1
Curnow, K.J.2
Gross, S.J.3
Hall, M.P.4
Stosic, M.5
Demko, Z.6
Zimmermann, B.7
Hill, M.8
Sigurjonsson, S.9
Ryan, A.10
Banjevic, M.11
Kolacki, P.L.12
Koch, S.W.13
Strom, C.M.14
Rabinowitz, M.15
Benn, P.16
-
34
-
-
84920829031
-
Clinical implementation of cell-free DNA based aneuploidy screening: Perspectives from a national audit
-
Hui L, Teoh M, da Silva Costa F, Ramsay P, Palma-Dias R, Richmond Z, Piessens S, Walker S. Clinical implementation of cell-free DNA based aneuploidy screening: Perspectives from a national audit. Ultrasound Obstet Gynecol 2014; 45: 10-15.
-
(2014)
Ultrasound Obstet Gynecol
, vol.45
, pp. 10-15
-
-
Hui, L.1
Teoh, M.2
Da Silva Costa, F.3
Ramsay, P.4
Palma-Dias, R.5
Richmond, Z.6
Piessens, S.7
Walker, S.8
-
35
-
-
84897589453
-
Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: Review of 1982 consecutive cases in a single center
-
Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, Chan HY, Chan WS, Choy KW. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: Review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol 2014; 43: 254-264.
-
(2014)
Ultrasound Obstet Gynecol
, vol.43
, pp. 254-264
-
-
Lau, T.K.1
Cheung, S.W.2
Lo, P.S.3
Pursley, A.N.4
Chan, M.K.5
Jiang, F.6
Zhang, H.7
Wang, W.8
Jong, L.F.9
Yuen, O.K.10
Chan, H.Y.11
Chan, W.S.12
Choy, K.W.13
-
36
-
-
84926245497
-
Japan NIPT consortium. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: One-year experience
-
[Epub ahead of print]
-
Sago H, Sekizawa A; Japan NIPT consortium. Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: One-year experience. Prenat Diagn 2014; DOI:10.1002/pd.4539. [Epub ahead of print].
-
(2014)
Prenat Diagn
-
-
Sago, H.1
Sekizawa, A.2
-
37
-
-
84903769795
-
Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: Initial experience in a Chinese hospital
-
Yao H, Jiang F, Hu H, Gao Y, Zhu Z, Zhang H, Wang Y, Guo Y, Liu L, Yuan Y, Zhou L, Wang J, Du B, Qu N, Zhang R, Dong Y, Xu H, Chen F, Jiang H, Liu Y, Zhang L, Tian Z, Liu Q, Zhang C, Pan X, Yang S, Zhao L, Wang W, Liang Z. Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: Initial experience in a Chinese hospital. Ultrasound Obstet Gynecol 2014; 44: 17-24.
-
(2014)
Ultrasound Obstet Gynecol
, vol.44
, pp. 17-24
-
-
Yao, H.1
Jiang, F.2
Hu, H.3
Gao, Y.4
Zhu, Z.5
Zhang, H.6
Wang, Y.7
Guo, Y.8
Liu, L.9
Yuan, Y.10
Zhou, L.11
Wang, J.12
Du, B.13
Qu, N.14
Zhang, R.15
Dong, Y.16
Xu, H.17
Chen, F.18
Jiang, H.19
Liu, Y.20
Zhang, L.21
Tian, Z.22
Liu, Q.23
Zhang, C.24
Pan, X.25
Yang, S.26
Zhao, L.27
Wang, W.28
Liang, Z.29
more..
-
38
-
-
84909977965
-
Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: A hospital experience
-
Zhou Q, Pan L, Chen S, Chen F, Hwang R, Yang X, Wang W, Jiang J, Xu J, Huang H, Xu C. Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: A hospital experience. Prenat Diagn 2014; 34: 1061-1065.
-
(2014)
Prenat Diagn
, vol.34
, pp. 1061-1065
-
-
Zhou, Q.1
Pan, L.2
Chen, S.3
Chen, F.4
Hwang, R.5
Yang, X.6
Wang, W.7
Jiang, J.8
Xu, J.9
Huang, H.10
Xu, C.11
-
39
-
-
84920934388
-
Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies
-
Bevilacqua E, Gil MM, Nicolaides KH, Ordoñ ez E, Cirigliano V, Dierickx H, Willems PJ, Jani JC. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol 2015; 45: 61-66.
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, pp. 61-66
-
-
Bevilacqua, E.1
Gil, M.M.2
Nicolaides, K.H.3
Ordoñez, E.4
Cirigliano, V.5
Dierickx, H.6
Willems, P.J.7
Jani, J.C.8
-
40
-
-
84907978481
-
Feasibility of noninvasive prenatal testing for common fetal aneuploidies in an early gestational window
-
Shi X, Zhang Z, Cram DS, Liu C. Feasibility of noninvasive prenatal testing for common fetal aneuploidies in an early gestational window. Clin Chim Acta 2015; 439: 24-28.
-
(2015)
Clin Chim Acta
, vol.439
, pp. 24-28
-
-
Shi, X.1
Zhang, Z.2
Cram, D.S.3
Liu, C.4
-
41
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
-
Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. BMJ 2011; 342: C7401.
-
(2011)
BMJ
, vol.342
, pp. c7401
-
-
Chiu, R.W.1
Akolekar, R.2
Zheng, Y.W.3
Leung, T.Y.4
Sun, H.5
Chan, K.C.6
Lun, F.M.7
Go, A.T.8
Lau, E.T.9
To, W.W.10
Leung, W.C.11
Tang, R.Y.12
Au-Yeung, S.K.13
Lam, H.14
Kung, Y.Y.15
Zhang, X.16
Van Vugt, J.M.17
Minekawa, R.18
Tang, M.H.19
Wang, J.20
Oudejans, C.B.21
Lau, T.K.22
Nicolaides, K.H.23
Lo, Y.M.24
more..
-
42
-
-
79952302397
-
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting
-
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting. Am J Obstet Gynecol 2011; 204: 205 e1-11.
-
(2011)
Am J Obstet Gynecol
, vol.204
, pp. 205e1-205e11
-
-
Ehrich, M.1
Deciu, C.2
Zwiefelhofer, T.3
Tynan, J.A.4
Cagasan, L.5
Tim, R.6
Lu, V.7
McCullough, R.8
McCarthy, E.9
Nygren, A.O.10
Dean, J.11
Tang, L.12
Hutchison, D.13
Lu, T.14
Wang, H.15
Angkachatchai, V.16
Oeth, P.17
Cantor, C.R.18
Bombard, A.19
Van Den Boom, D.20
more..
-
43
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
-
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med 2011; 13: 913-920.
-
(2011)
Genet Med
, vol.13
, pp. 913-920
-
-
Palomaki, G.E.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
Haddow, J.E.4
Neveux, L.M.5
Ehrich, M.6
Van Den Boom, D.7
Bombard, A.T.8
Deciu, C.9
Grody, W.W.10
Nelson, S.F.11
Canick, J.A.12
-
44
-
-
79959759113
-
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
-
Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011; 57: 1042-1049.
-
(2011)
Clin Chem
, vol.57
, pp. 1042-1049
-
-
Sehnert, A.J.1
Rhees, B.2
Comstock, D.3
De Feo, E.4
Heilek, G.5
Burke, J.6
Rava, R.P.7
-
45
-
-
84859320067
-
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
-
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 322.e1-5.
-
(2012)
Am J Obstet Gynecol
, vol.206
, pp. 322e1-322e5
-
-
Ashoor, G.1
Syngelaki, A.2
Wagner, M.3
Birdir, C.4
Nicolaides, K.H.5
-
46
-
-
84860213983
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012; 119: 890-901.
-
(2012)
Obstet Gynecol
, vol.119
, pp. 890-901
-
-
Bianchi, D.W.1
Platt, L.D.2
Goldberg, J.D.3
Abuhamad, A.Z.4
Sehnert, A.J.5
Rava, R.P.6
-
47
-
-
84864297424
-
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
-
Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn 2012; 32: 730-734.
-
(2012)
Prenat Diagn
, vol.32
, pp. 730-734
-
-
Canick, J.A.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
Haddow, J.E.4
Ehrich, M.5
Van Den Boom, D.6
Bombard, A.T.7
Deciu, C.8
Palomaki, G.E.9
-
48
-
-
84870175220
-
Noninvasive Fetal Trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
-
Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, Su Y, Xie J, Yin B, Su W, Zhang H, Wang W, Chai X, Lin L, Guo H, Li Q, Li P, Yuan Y, Pan X, Li Y, Liu L, Chen H, Xuan Z, Chen S, Zhang C, Zhang H, Tian Z, Zhang Z, Jiang H, Zhao L, Zheng W, Li S, Li Y, Wang J, Wang J, Zhang X. Noninvasive Fetal Trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 2012; 5: 57.
-
(2012)
BMC Med Genomics
, vol.5
, pp. 57
-
-
Jiang, F.1
Ren, J.2
Chen, F.3
Zhou, Y.4
Xie, J.5
Dan, S.6
Su, Y.7
Xie, J.8
Yin, B.9
Su, W.10
Zhang, H.11
Wang, W.12
Chai, X.13
Lin, L.14
Guo, H.15
Li, Q.16
Li, P.17
Yuan, Y.18
Pan, X.19
Li, Y.20
Liu, L.21
Chen, H.22
Xuan, Z.23
Chen, S.24
Zhang, C.25
Zhang, H.26
Tian, Z.27
Zhang, Z.28
Jiang, H.29
Zhao, L.30
Zheng, W.31
Li, S.32
Li, Y.33
Wang, J.34
Wang, J.35
Zhang, X.36
more..
-
49
-
-
84859363202
-
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
-
Lau TK, Chen F, Pan X, Pooh RK, Jiang F, Li Y, Jiang H, Li X, Chen S, Zhang X. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 2012; 25: 1370-1374.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1370-1374
-
-
Lau, T.K.1
Chen, F.2
Pan, X.3
Pooh, R.K.4
Jiang, F.5
Li, Y.6
Jiang, H.7
Li, X.8
Chen, S.9
Zhang, X.10
-
50
-
-
84868029481
-
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
-
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012; 207: 374.e1-6.
-
(2012)
Am J Obstet Gynecol
, vol.207
, pp. 374e1-374e6
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Ashoor, G.3
Birdir, C.4
Touzet, G.5
-
51
-
-
84864408781
-
Non-invasive chromosomal evaluation (NICE) study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
-
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. Non-invasive chromosomal evaluation (NICE) study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 207: 137.e1-8.
-
(2012)
Am J Obstet Gynecol
, vol.207
, pp. 137e1-137e8
-
-
Norton, M.E.1
Brar, H.2
Weiss, J.3
Karimi, A.4
Laurent, L.C.5
Caughey, A.B.6
Rodriguez, M.H.7
Williams, J.8
Mitchell, M.E.9
Adair, C.D.10
Lee, H.11
Jacobsson, B.12
Tomlinson, M.W.13
Oepkes, D.14
Hollemon, D.15
Sparks, A.B.16
Oliphant, A.17
Song, K.18
-
52
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study
-
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE,Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study. Genet Med 2012; 14: 296-305.
-
(2012)
Genet Med
, vol.14
, pp. 296-305
-
-
Palomaki, G.E.1
Deciu, C.2
Kloza, E.M.3
Lambert-Messerlian, G.M.4
Haddow, J.E.5
Neveux, L.M.6
Ehrich, M.7
Van Den Boom, D.8
Bombard, A.T.9
Grody, W.W.10
Nelson, S.F.11
Canick, J.A.12
-
53
-
-
84859361254
-
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18
-
Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 319.e1-9.
-
(2012)
Am J Obstet Gynecol
, vol.206
, pp. 319e1-319e9
-
-
Sparks, A.B.1
Struble, C.A.2
Wang, E.T.3
Song, K.4
Oliphant, A.5
-
54
-
-
84871532946
-
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-freeDNAanalysis
-
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, Nicolaides KH. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-freeDNAanalysis. Ultrasound Obstet Gynecol 2013; 41: 21-25.
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, pp. 21-25
-
-
Ashoor, G.1
Syngelaki, A.2
Wang, E.3
Struble, C.4
Oliphant, A.5
Song, K.6
Nicolaides, K.H.7
-
55
-
-
84880039886
-
A robust 2nd generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in manternal blood
-
Guex N, Iseli C, Syngelaki A, Pescia G, Nicolaides KH,Xenarios I, Conrad B. A robust 2nd generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in manternal blood. Prenat Diagn 2013; 33: 707-710.
-
(2013)
Prenat Diagn
, vol.33
, pp. 707-710
-
-
Guex, N.1
Iseli, C.2
Syngelaki, A.3
Pescia, G.4
Nicolaides, K.H.5
Xenarios, I.6
Conrad, B.7
-
56
-
-
84873423195
-
Non-invasive prenatal screening of fetal Down syndrome by maternal plasmaDNAsequencing in twin pregnancies
-
Lau TK, Jiang F, Chan MK, Zhang H, Lo PS, Wang W. Non-invasive prenatal screening of fetal Down syndrome by maternal plasmaDNAsequencing in twin pregnancies.JMatern Fetal Neonatal Med 2013; 26: 434-437.
-
(2013)
JMatern Fetal Neonatal Med
, vol.26
, pp. 434-437
-
-
Lau, T.K.1
Jiang, F.2
Chan, M.K.3
Zhang, H.4
Lo, P.S.5
Wang, W.6
-
57
-
-
84877601474
-
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
-
Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013; 33: 409-415.
-
(2013)
Prenat Diagn
, vol.33
, pp. 409-415
-
-
Liang, D.1
Lv, W.2
Wang, H.3
Xu, L.4
Liu, J.5
Li, H.6
Hu, L.7
Peng, Y.8
Wu, L.9
-
58
-
-
84878152406
-
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA frommaternal plasma
-
Mazloom AR, Dz?akula Z? , Oeth P, Wang H, Jensen T, Tynan J, McCullough R, Saldivar JS, Ehrich M, van den Boom D, Bombard AT, Maeder M, McLennan G,MeschinoW, Palomaki GE, Canick JA, Deciu C. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA frommaternal plasma. Prenat Diagn 2013; 33: 591-597.
-
(2013)
Prenat Diagn
, vol.33
, pp. 591-597
-
-
Mazloom, A.R.1
Dzakula, Z.2
Oeth, P.3
Wang, H.4
Jensen, T.5
Tynan, J.6
McCullough, R.7
Saldivar, J.S.8
Ehrich, M.9
Van Den Boom, D.10
Bombard, A.T.11
Maeder, M.12
McLennan, G.13
Meschino, W.14
Palomaki, G.E.15
Canick, J.A.16
Deciu, C.17
-
59
-
-
84878164024
-
Validation study of maternal blood cell-free DNA testing by targeted sequencing of single-nucleotide polymorphisms at chromosomes 13, 18, 21, X, and Y
-
Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation study of maternal blood cell-free DNA testing by targeted sequencing of single-nucleotide polymorphisms at chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013; 33: 575-579.
-
(2013)
Prenat Diagn
, vol.33
, pp. 575-579
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Gil, M.3
Atanasova, V.4
Markova, D.5
-
60
-
-
84880041032
-
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy
-
Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn 2013; 33: 643-649.
-
(2013)
Prenat Diagn
, vol.33
, pp. 643-649
-
-
Samango-Sprouse, C.1
Banjevic, M.2
Ryan, A.3
Sigurjonsson, S.4
Zimmermann, B.5
Hill, M.6
Hall, M.P.7
Westemeyer, M.8
Saucier, J.9
Demko, Z.10
Rabinowitz, M.11
-
61
-
-
84880038440
-
Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
-
Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013; 33: 700-706.
-
(2013)
Prenat Diagn
, vol.33
, pp. 700-706
-
-
Song, Y.1
Liu, C.2
Qi, H.3
Zhang, Y.4
Bian, X.5
Liu, J.6
-
62
-
-
84905561731
-
European Non-Invasive Trisomy Evaluation (EU-NITE) study: A multicenter prospective cohort study for non-invasive fetal trisomy 21 testing
-
Verweij EJ, Jacobsson B, van Scheltema PA, de Boer MA, Hoffer MJ, Hollemon D, Westgren M, Song K, Oepkes D. European Non-Invasive Trisomy Evaluation (EU-NITE) study: A multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn 2013; 22: 1-6.
-
(2013)
Prenat Diagn
, vol.22
, pp. 1-6
-
-
Verweij, E.J.1
Jacobsson, B.2
Van Scheltema, P.A.3
De Boer, M.A.4
Hoffer, M.J.5
Hollemon, D.6
Westgren, M.7
Song, K.8
Oepkes, D.9
-
63
-
-
84896691791
-
DNA sequencing versus standard prenatal aneuploidy screening
-
Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014; 370: 799-808.
-
(2014)
N Engl J Med
, vol.370
, pp. 799-808
-
-
Bianchi, D.W.1
Parker, R.L.2
Wentworth, J.3
Madankumar, R.4
Saffer, C.5
Das, A.F.6
Craig, J.A.7
Chudova, D.I.8
Devers, P.L.9
Jones, K.W.10
Oliver, K.11
Rava, R.P.12
Sehnert, A.J.13
-
64
-
-
84924051317
-
Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting
-
Comas C, Echevarria M, Rodríguez MA, Prats P, Rodríguez I, Serra B. Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. J Matern Fetal Neonatal Med 2014; 12: 1-6.
-
(2014)
J Matern Fetal Neonatal Med
, vol.12
, pp. 1-6
-
-
Comas, C.1
Echevarria, M.2
Rodríguez, M.A.3
Prats, P.4
Rodríguez, I.5
Serra, B.6
-
65
-
-
84906874410
-
Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies
-
delMar GilM, Quezada MS, Bregant B, Syngelaki A, Nicolaides KH. Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn Ther 2014; 35: 204-211.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 204-211
-
-
Del Mar Gil, M.1
Quezada, M.S.2
Bregant, B.3
Syngelaki, A.4
Nicolaides, K.H.5
-
66
-
-
84924082243
-
Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins
-
Grömminger S, Yagmur E, Erkan S, Nagy S, Schöck U, Bonnet J, Smerdka P, Ehrich M, Wegner RD, Hofmann W, Stumm M. Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins. J Clin Med 2014; 3: 679-692.
-
(2014)
J Clin Med
, vol.3
, pp. 679-692
-
-
Grömminger, S.1
Yagmur, E.2
Erkan, S.3
Nagy, S.4
Schöck, U.5
Bonnet, J.6
Smerdka, P.7
Ehrich, M.8
Wegner, R.D.9
Hofmann, W.10
Stumm, M.11
-
67
-
-
84900537983
-
Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphismand informatics-based approach
-
Hall MP, Hill M, Zimmermann B, Sigurjonsson S, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphismand informatics-based approach. PLoS One 2014; 9: E96677.
-
(2014)
PLoS One
, vol.9
, pp. e96677
-
-
Hall, M.P.1
Hill, M.2
Zimmermann, B.3
Sigurjonsson, S.4
Westemeyer, M.5
Saucier, J.6
Demko, Z.7
Rabinowitz, M.8
-
68
-
-
84898827257
-
Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction
-
Hooks J, Wolfberg AJ, Wang ET, Struble CA, Zahn J, Juneau K, Mohseni M, Huang S, Bogard P, Song K, Oliphant A, Musci TJ. Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn 2014; 34: 496-499.
-
(2014)
Prenat Diagn
, vol.34
, pp. 496-499
-
-
Hooks, J.1
Wolfberg, A.J.2
Wang, E.T.3
Struble, C.A.4
Zahn, J.5
Juneau, K.6
Mohseni, M.7
Huang, S.8
Bogard, P.9
Song, K.10
Oliphant, A.11
Musci, T.J.12
-
69
-
-
84898059528
-
Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies
-
Huang X, Zheng J, Chen M, Zhao Y, Zhang C, Liu L, Xie W, Shi S, WeiY, Lei D, Xu C, WuQ, GuoX, Shi X, ZhouY, LiuQ, GaoY, Jiang F,ZhangH, Su F, GeH, Li X, PanX,Chen S,Chen F, Fang Q, Jiang H, Lau TK, Wang W. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat Diagn 2014; 34: 335-340.
-
(2014)
Prenat Diagn
, vol.34
, pp. 335-340
-
-
Huang, X.1
Zheng, J.2
Chen, M.3
Zhao, Y.4
Zhang, C.5
Liu, L.6
Xie, W.7
Shi, S.8
WeiY Lei, D.9
Xu, C.10
Wu, Q.11
Guo, X.12
Shi, X.13
Zhou, Y.14
Liu, Q.15
Gao, Y.16
Jiang, F.17
Zhang, H.18
Su, F.19
Ge, H.20
Li, X.21
Pan, X.22
Chen, S.23
Chen, F.24
Fang, Q.25
Jiang, H.26
Lau, T.K.27
Wang, W.28
more..
-
70
-
-
84896698058
-
Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis
-
Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther 2014; 35: 1-6.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 1-6
-
-
Nicolaides, K.H.1
Musci, T.J.2
Struble, C.A.3
Syngelaki, A.4
Gil, M.M.5
-
71
-
-
84905093469
-
RabinowitzM. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort
-
Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, Hall MP, Dodd M, Lacroute P, Stosic M, Chopra N, Hunkapiller N, Prosen DE, McAdoo S, Demko Z, Siddiqui A, Hill M, RabinowitzM. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014; 124: 210-218.
-
(2014)
Obstet Gynecol
, vol.124
, pp. 210-218
-
-
Pergament, E.1
Cuckle, H.2
Zimmermann, B.3
Banjevic, M.4
Sigurjonsson, S.5
Ryan, A.6
Hall, M.P.7
Dodd, M.8
Lacroute, P.9
Stosic, M.10
Chopra, N.11
Hunkapiller, N.12
Prosen, D.E.13
McAdoo, S.14
Demko, Z.15
Siddiqui, A.16
Hill, M.17
-
72
-
-
84907705050
-
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
-
Porreco RP, Garite TJ, Maurel K, Marusiak B; Obstetrix Collaborative Research Network, Ehrich M, van den Boom D, Deciu C, Bombard A. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol 2014; 211: 365.e1-12.
-
(2014)
Am J Obstet Gynecol
, vol.211
, pp. 365e1-365e12
-
-
Porreco, R.P.1
Garite, T.J.2
Maurel, K.3
Marusiak, B.4
Ehrich, M.5
Van Den Boom, D.6
Deciu, C.7
Bombard, A.8
-
73
-
-
84896724344
-
Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: A multicenter prospective cohort trial in Taiwan
-
Shaw SW, Hsiao CH, Chen CY, Ren Y, Tian F, Tsai C, Chen M, Cheng PJ. Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: A multicenter prospective cohort trial in Taiwan. Fetal Diagn Ther 2014; 35: 13-17.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 13-17
-
-
Shaw, S.W.1
Hsiao, C.H.2
Chen, C.Y.3
Ren, Y.4
Tian, F.5
Tsai, C.6
Chen, M.7
Cheng, P.J.8
-
74
-
-
84895072217
-
Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: A collaborative study in Europe
-
Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: A collaborative study in Europe. Prenat Diagn 2014; 34: 185-191.
-
(2014)
Prenat Diagn
, vol.34
, pp. 185-191
-
-
Stumm, M.1
Entezami, M.2
Haug, K.3
Blank, C.4
Wüstemann, M.5
Schulze, B.6
Raabe-Meyer, G.7
Hempel, M.8
Schelling, M.9
Ostermayer, E.10
Langer-Freitag, S.11
Burkhardt, T.12
Zimmermann, R.13
Schleicher, T.14
Weil, B.15
Schöck, U.16
Smerdka, P.17
Grömminger, S.18
Kumar, Y.19
Hofmann, W.20
more..
-
75
-
-
84920828910
-
Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks
-
Quezada MS, Gil MM, Francisco C, Oròsz G, Nicolaides KH. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol 2015; 45: 36-41.
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, pp. 36-41
-
-
Quezada, M.S.1
Gil, M.M.2
Francisco, C.3
Oròsz, G.4
Nicolaides, K.H.5
-
76
-
-
84920876199
-
Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy
-
Song Y, Huang S, Zhou X, Jiang Y, Qi Q, Bian X, Zhang J, Yan Y, Cram DS, Liu J. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy. Ultrasound Obstet Gynecol 2015; 45: 55-60.
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, pp. 55-60
-
-
Song, Y.1
Huang, S.2
Zhou, X.3
Jiang, Y.4
Qi, Q.5
Bian, X.6
Zhang, J.7
Yan, Y.8
Cram, D.S.9
Liu, J.10
-
77
-
-
80054740636
-
QUADAS-2: A revised tool for the quality assessment of diagnostic accuracy studies
-
Whiting PF, Rutjes AW, Westwood ME, Mallett S, Deeks JJ, Reitsma JB, Leeflang MM, Sterne JA, Bossuyt PM; QUADAS-2 Group. QUADAS-2: A revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med 2011; 155: 529-536.
-
(2011)
Ann Intern Med
, vol.155
, pp. 529-536
-
-
Whiting, P.F.1
Rutjes, A.W.2
Westwood, M.E.3
Mallett, S.4
Deeks, J.J.5
Reitsma, J.B.6
Leeflang, M.M.7
Sterne, J.A.8
Bossuyt, P.M.9
-
78
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008; 105: 266-271.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 266-271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
Hudgins, L.4
Quake, S.R.5
-
79
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A 2008; 105: 20458-20463.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 20458-20463
-
-
Chiu, R.W.1
Chan, K.C.2
Gao, Y.3
Lau, V.Y.4
Zheng, W.5
Leung, T.Y.6
Foo, C.H.7
Xie, B.8
Tsui, N.B.9
Lun, F.M.10
Zee, B.C.11
Lau, T.K.12
Cantor, C.R.13
Lo, Y.M.14
-
80
-
-
33846857305
-
A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: A preliminary study
-
Dhallan R, Guo X, Emche S, Damewood M, Bayliss P, Cronin M, Barry J, Betz J, Franz K, Gold K, Vallecillo B, Varney J. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: A preliminary study. Lancet 2007; 369: 474-481.
-
(2007)
Lancet
, vol.369
, pp. 474-481
-
-
Dhallan, R.1
Guo, X.2
Emche, S.3
Damewood, M.4
Bayliss, P.5
Cronin, M.6
Barry, J.7
Betz, J.8
Franz, K.9
Gold, K.10
Vallecillo, B.11
Varney, J.12
-
81
-
-
84873186698
-
Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis
-
Qu JZ, Leung TY, Jiang P, Liao GJ, Cheng YK, Sun H, Chiu RW, Chan KC, Lo YM. Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis. Clin Chem 2013; 59: 427-435.
-
(2013)
Clin Chem
, vol.59
, pp. 427-435
-
-
Qu, J.Z.1
Leung, T.Y.2
Jiang, P.3
Liao, G.J.4
Cheng, Y.K.5
Sun, H.6
Chiu, R.W.7
Chan, K.C.8
Lo, Y.M.9
-
82
-
-
84908667499
-
Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis
-
Struble CA, Syngelaki A, Oliphant A, Song K, Nicolaides KH. Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis. Fetal Diagn Ther 2014; 35: 199-203.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 199-203
-
-
Struble, C.A.1
Syngelaki, A.2
Oliphant, A.3
Song, K.4
Nicolaides, K.H.5
-
83
-
-
84862492435
-
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Effect of maternal and fetal factors
-
Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Effect of maternal and fetal factors. Fetal Diagn Ther 2012; 31: 237-243.
-
(2012)
Fetal Diagn Ther
, vol.31
, pp. 237-243
-
-
Ashoor, G.1
Poon, L.2
Syngelaki, A.3
Mosimann, B.4
Nicolaides, K.H.5
-
84
-
-
84871536941
-
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Relation to maternal and fetal characteristics
-
Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013; 41: 26-32.
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, pp. 26-32
-
-
Ashoor, G.1
Syngelaki, A.2
Poon, L.C.3
Rezende, J.C.4
Nicolaides, K.H.5
-
85
-
-
84879498978
-
Firsttrimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing
-
Nicolaides KH, WrightD, Poon LC, Syngelaki A, GilMM.Firsttrimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2013; 42: 41-50.
-
(2013)
Ultrasound Obstet Gynecol
, vol.42
, pp. 41-50
-
-
Nicolaides, K.H.1
WrightD Poon, L.C.2
Syngelaki, A.3
Gil, M.M.4
-
86
-
-
84908660739
-
First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing
-
Nicolaides KH, Syngelaki A, Poon LC, Gil MM, Wright D. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther 2014; 35: 185-192.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 185-192
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Poon, L.C.3
Gil, M.M.4
Wright, D.5
-
87
-
-
84920842694
-
First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing
-
Kagan KO, Wright D,Nicolaides KH. First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 2015; 45: 42-47.
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, pp. 42-47
-
-
Kagan, K.O.1
Wright, D.2
Nicolaides, K.H.3
-
88
-
-
79954998794
-
Turning the pyramid of prenatal care
-
Nicolaides KH: Turning the pyramid of prenatal care. Fetal Diagn Ther 2011; 29: 183-196.
-
(2011)
Fetal Diagn Ther
, vol.29
, pp. 183-196
-
-
Nicolaides, K.H.1
-
89
-
-
53149090900
-
Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A
-
Kagan KO, Wright D, Maiz N, Pandeva I, Nicolaides KH. Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 2008; 32: 488-492.
-
(2008)
Ultrasound Obstet Gynecol
, vol.32
, pp. 488-492
-
-
Kagan, K.O.1
Wright, D.2
Maiz, N.3
Pandeva, I.4
Nicolaides, K.H.5
-
90
-
-
54149092040
-
Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free ß-hCG and pregnancy-associated plasma protein-A
-
Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free ß-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23: 1968-1975.
-
(2008)
Hum Reprod
, vol.23
, pp. 1968-1975
-
-
Kagan, K.O.1
Wright, D.2
Valencia, C.3
Maiz, N.4
Nicolaides, K.H.5
-
91
-
-
84896113111
-
First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing
-
Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014; 35: 118-126.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 118-126
-
-
Wright, D.1
Syngelaki, A.2
Bradbury, I.3
Akolekar, R.4
Nicolaides, K.H.5
-
92
-
-
0031746363
-
Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks
-
Sebire NJ, Snijders RJ, Brown R, Southall T, Nicolaides KH. Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks. Prenat Diagn 1998; 18: 581-584.
-
(1998)
Prenat Diagn
, vol.18
, pp. 581-584
-
-
Sebire, N.J.1
Snijders, R.J.2
Brown, R.3
Southall, T.4
Nicolaides, K.H.5
-
93
-
-
0034062921
-
Maternal serum free ß-hCG and PAPP-A in fetal sex chromosome defects in the first trimester
-
Spencer K, Tul N, Nicolaides KH. Maternal serum free ß-hCG and PAPP-A in fetal sex chromosome defects in the first trimester. Prenat Diagn 2000; 20: 390-394.
-
(2000)
Prenat Diagn
, vol.20
, pp. 390-394
-
-
Spencer, K.1
Tul, N.2
Nicolaides, K.H.3
-
94
-
-
77951946765
-
A review of trisomy X (47,XXX
-
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L: A review of trisomy X (47,XXX). Orphanet J Rare Dis 2010; 5: 8.
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 8
-
-
Tartaglia, N.R.1
Howell, S.2
Sutherland, A.3
Wilson, R.4
Wilson, L.5
-
95
-
-
84897022652
-
Turner syndrome revisited: Review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss
-
Hook EB, Warburton D. Turner syndrome revisited: Review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet 2014; 133: 417-424.
-
(2014)
Hum Genet
, vol.133
, pp. 417-424
-
-
Hook, E.B.1
Warburton, D.2
-
96
-
-
84891822473
-
Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing
-
Wang Y, Chen Y, Tian F, Zhang J, Song Z, Wu Y, Han X, Hu W, Ma D, Cram D, Cheng W. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014; 60: 251-259.
-
(2014)
Clin Chem
, vol.60
, pp. 251-259
-
-
Wang, Y.1
Chen, Y.2
Tian, F.3
Zhang, J.4
Song, Z.5
Wu, Y.6
Han, X.7
Hu, W.8
Ma, D.9
Cram, D.10
Cheng, W.11
|