-
1
-
-
0038207040
-
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities
-
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Grimshaw GM, Szczepura A, Hultén M, MacDonald F, Nevin NC, Sutton F, Dhanjal S, Health Technol Assess 2003 7 1 146
-
(2003)
Health Technol Assess
, vol.7
, pp. 1-146
-
-
Grimshaw, G.M.1
Szczepura, A.2
Hultén, M.3
Macdonald, F.4
Nevin, N.C.5
Sutton, F.6
Dhanjal, S.7
-
2
-
-
70349660072
-
The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome
-
10.1097/GIM.0b013e3181b2e34c 19636252
-
The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO, Delabar JM, Mobley WC, Genet Med 2009 11 611 616 10.1097/GIM.0b013e3181b2e34c 19636252
-
(2009)
Genet Med
, vol.11
, pp. 611-616
-
-
Mégarbané, A.1
Ravel, A.2
Mircher, C.3
Sturtz, F.4
Grattau, Y.5
Rethoré, M.O.6
Delabar, J.M.7
Mobley, W.C.8
-
3
-
-
33845942655
-
ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities
-
Committee On Practice Bulletins 10.1097/00006250-200701000-00054 17197615
-
ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. ACOG Committee on Practice Bulletins, Obstet Gynecol 2007 109 217 227 10.1097/00006250-200701000-00054 17197615
-
(2007)
Obstet Gynecol
, vol.109
, pp. 217-227
-
-
-
4
-
-
27744477773
-
First-trimester or second-trimester screening, or both, for down's syndrome
-
DOI 10.1056/NEJMoa043693
-
First-trimester or second-trimester screening, or both, for Down's syndrome. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D'Alton ME, First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium, N Engl J Med 2005 353 2001 2011 10.1056/NEJMoa043693 16282175 (Pubitemid 41609093)
-
(2005)
New England Journal of Medicine
, vol.353
, Issue.19
, pp. 2001-2011
-
-
Malone, F.D.1
Canick, J.A.2
Ball, R.H.3
Nyberg, D.A.4
Comstock, C.H.5
Bukowski, R.6
Berkowitz, R.L.7
Gross, S.J.8
Dugoff, L.9
Craigo, S.D.10
Timor-Tritsch, I.E.11
Carr, S.R.12
Wolfe, H.M.13
Dukes, K.14
Bianchi, D.W.15
Rudnicka, A.R.16
Hackshaw, A.K.17
Lambert-Messerlian, G.18
Wald, N.J.19
D'Alton, M.E.20
more..
-
5
-
-
4043063702
-
Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities
-
DOI 10.1016/j.ajog.2004.03.090, PII S0002937804003394
-
Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Nicolaides KH, Am J Obstet Gynecol 2004 191 45 67 10.1016/j.ajog.2004.03.090 15295343 (Pubitemid 39077955)
-
(2004)
American Journal of Obstetrics and Gynecology
, vol.191
, Issue.1
, pp. 45-67
-
-
Nicolaides, K.H.1
-
6
-
-
33750999098
-
Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population
-
DOI 10.1016/j.ajog.2006.02.046, PII S0002937806002900
-
Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population. Rozenberg P, Bussières L, Chevret S, Bernard JP, Malagrida L, Cuckle H, Chabry C, Durand-Zaleski I, Bidat L, Lacroix I, Moulis M, Roger M, Jacquemot MC, Bault JP, Boukobza P, Boccara P, Vialard F, Giudicelli Y, Ville Y, Am J Obstet Gynecol 2006 195 1379 1387 10.1016/j.ajog.2006.02.046 16723105 (Pubitemid 44740408)
-
(2006)
American Journal of Obstetrics and Gynecology
, vol.195
, Issue.5
, pp. 1379-1387
-
-
Rozenberg, P.1
Bussieres, L.2
Chevret, S.3
Bernard, J.P.4
Malagrida, L.5
Cuckle, H.6
Chabry, C.7
Durand-Zaleski, I.8
Bidat, L.9
Lacroix, I.10
Moulis, M.11
Roger, M.12
Jacquemot, M.C.13
Bault, J.P.14
Boukobza, P.15
Boccara, P.16
Vialard, F.17
Giudicelli, Y.18
Ville, Y.19
-
7
-
-
38449105506
-
Invasive prenatal testing for aneuploidy
-
DOI 10.1097/01.AOG.0000291570.63450.44, PII 0000625020071200000050
-
ACOG practice bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. American College of Obstetricians and Gynecologists, Obstet Gynecol 2007 110 1459 1467 10.1097/01.AOG.0000291570.63450.44 18055749 (Pubitemid 351326103)
-
(2007)
Obstetrics and Gynecology
, vol.110
, Issue.6
, pp. 1459-1467
-
-
-
9
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
DOI 10.1016/S0140-6736(97)02174-0
-
Presence of fetal DNA in maternal plasma and serum. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS, Lancet 1997 350 485 487 10.1016/S0140-6736(97)02174-0 9274585 (Pubitemid 27343304)
-
(1997)
Lancet
, vol.350
, Issue.9076
, pp. 485-487
-
-
Dennis Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
Redman, C.W.G.6
Wainscoat, J.S.7
-
10
-
-
54049132561
-
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
-
10.1373/clinchem.2008.111385 18703764
-
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Lun FM, Chiu RW, Allen Chan KC, Yeung Leung T, Kin Lau T, Dennis Lo YM, Clin Chem 2008 54 1664 1672 10.1373/clinchem.2008.111385 18703764
-
(2008)
Clin Chem
, vol.54
, pp. 1664-1672
-
-
Lun, F.M.1
Chiu, R.W.2
Allen Chan, K.C.3
Yeung Leung, T.4
Kin Lau, T.5
Dennis Lo, Y.M.6
-
11
-
-
0033364339
-
Rapid clearance of fetal DNA from maternal plasma
-
DOI 10.1086/302205
-
Rapid clearance of fetal DNA from maternal plasma. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM, Am J Hum Genet 1999 64 218 224 10.1086/302205 9915961 (Pubitemid 30428975)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.1
, pp. 218-224
-
-
Dennis Lo, Y.M.1
Zhang, J.2
Leung, T.N.3
Lau, T.K.4
Chang, A.M.Z.5
Magnus Hjelm, N.6
-
12
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome wide genetic and mutational profile of the fetus
-
21148127
-
Maternal plasma DNA sequencing reveals the genome wide genetic and mutational profile of the fetus. Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW, Sci Transl Med 2010 2 61ra91 21148127
-
(2010)
Sci Transl Med
, vol.2
-
-
Lo, Y.M.1
Chan, K.C.2
Sun, H.3
Chen, E.Z.4
Jiang, P.5
Lun, F.M.6
Zheng, Y.W.7
Leung, T.Y.8
Lau, T.K.9
Cantor, C.R.10
Chiu, R.W.11
-
13
-
-
79952302397
-
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting
-
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, Am J Obstet Gynecol 2011 204 205 1 e11
-
(2011)
Am J Obstet Gynecol
, vol.204
, Issue.205
-
-
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..
-
14
-
-
84860213983
-
MatErnal BLood IS source to accurately diagnose fetal aneuploidy (MELISSA) study group: Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
10.1097/AOG.0b013e31824fb482 22362253
-
MatErnal BLood IS source to accurately diagnose fetal aneuploidy (MELISSA) study group: genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP, Obstet Gynecol 2012 119 890 901 10.1097/AOG.0b013e31824fb482 22362253
-
(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
-
15
-
-
84892673646
-
Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood
-
10.5468/OGS.2013.56.2.58 24327983
-
Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood. Lim JH, Park SY, Ryu HM, Obstet Gynecol Sci 2013 56 58 66 10.5468/OGS.2013.56.2.58 24327983
-
(2013)
Obstet Gynecol Sci
, vol.56
, pp. 58-66
-
-
Lim, J.H.1
Park, S.Y.2
Ryu, H.M.3
-
16
-
-
84879440987
-
Noninvasive detection of fetal trisomy 21: Systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012
-
10.1093/humupd/dmt001 23396607
-
Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Mersy E, Smits LJ, van Winden LA, de Die-Smulders CE, South-East Netherlands NIPT C, Paulussen AD, Macville MV, Coumans AB, Frints SG, Hum Reprod Update 2013 19 318 329 10.1093/humupd/dmt001 23396607
-
(2013)
Hum Reprod Update
, vol.19
, pp. 318-329
-
-
Mersy, E.1
Smits, L.J.2
Van Winden, L.A.3
De Die-Smulders, C.E.4
South-East Netherlands Nipt, C.5
Paulussen, A.D.6
Macville, M.V.7
Coumans, A.B.8
Frints, S.G.9
-
17
-
-
81755176083
-
Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasma
-
10.1371/journal.pone.0027709 22132128
-
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, PLoS One 2011 6 27709 10.1371/journal.pone.0027709 22132128
-
(2011)
PLoS One
, vol.6
, pp. 527709
-
-
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
-
18
-
-
79953739378
-
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
-
10.1038/nm.2312 21378977
-
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC, Nat Med 2011 17 510 513 10.1038/nm.2312 21378977
-
(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
-
19
-
-
65649095218
-
Sites of differential DNA methylation between placenta and peripheral blood: Molecular markers for noninvasive prenatal diagnosis of aneuploidies
-
10.2353/ajpath.2009.081038 19349366
-
Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, Carter NP, Patsalis PC, Am J Pathol 2009 174 1609 1618 10.2353/ajpath.2009.081038 19349366
-
(2009)
Am J Pathol
, vol.174
, pp. 1609-1618
-
-
Papageorgiou, E.A.1
Fiegler, H.2
Rakyan, V.3
Beck, S.4
Hulten, M.5
Lamnissou, K.6
Carter, N.P.7
Patsalis, P.C.8
-
20
-
-
75949111786
-
Rapid quantification of DNA methylation by measuring relative peak heights in direct bisulfite-PCR sequencing traces
-
10.1038/labinvest.2009.132 20010852
-
Rapid quantification of DNA methylation by measuring relative peak heights in direct bisulfite-PCR sequencing traces. Jiang M, Zhang Y, Fei J, Chang X, Fan W, Qian X, Zhang T, Lu D, Lab Invest 2010 90 282 290 10.1038/labinvest.2009.132 20010852
-
(2010)
Lab Invest
, vol.90
, pp. 282-290
-
-
Jiang, M.1
Zhang, Y.2
Fei, J.3
Chang, X.4
Fan, W.5
Qian, X.6
Zhang, T.7
Lu, D.8
-
21
-
-
0020489781
-
Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells
-
10.1093/nar/10.8.2709 7079182
-
Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells. Ehrlich M, Gama-Sosa MA, Huang LH, Midgett RM, Kuo KC, McCune RA, Gehrke C, Nucleic Acids Res 1982 10 2709 2721 10.1093/nar/10.8.2709 7079182
-
(1982)
Nucleic Acids Res
, vol.10
, pp. 2709-2721
-
-
Ehrlich, M.1
Gama-Sosa, M.A.2
Huang, L.H.3
Midgett, R.M.4
Kuo, K.C.5
McCune, R.A.6
Gehrke, C.7
-
22
-
-
78649715229
-
Altered DNA methylation in leukocytes with trisomy 21
-
10.1371/journal.pgen.1001212 21124956
-
Altered DNA methylation in leukocytes with trisomy 21. Kerkel K, Schupf N, Hatta K, Pang D, Salas M, Kratz A, Minden M, Murty V, Zigman WB, Mayeux RP, Jenkins EC, Torkamani A, Schork NJ, Silverman W, Croy BA, Tycko B, PLoS Genet 2010 6 1001212 10.1371/journal.pgen.1001212 21124956
-
(2010)
PLoS Genet
, vol.6
, pp. 51001212
-
-
Kerkel, K.1
Schupf, N.2
Hatta, K.3
Pang, D.4
Salas, M.5
Kratz, A.6
Minden, M.7
Murty, V.8
Zigman, W.B.9
Mayeux, R.P.10
Jenkins, E.C.11
Torkamani, A.12
Schork, N.J.13
Silverman, W.14
Croy, B.A.15
Tycko, B.16
-
23
-
-
49949108971
-
Age-specific epigenetic drift in late-onset Alzheimer's disease
-
10.1371/journal.pone.0002698 18628954
-
Age-specific epigenetic drift in late-onset Alzheimer's disease. Wang SC, Oelze B, Schumacher A, PLoS One 2008 3 2698 10.1371/journal.pone.0002698 18628954
-
(2008)
PLoS One
, vol.3
, pp. 52698
-
-
Wang, S.C.1
Oelze, B.2
Schumacher, A.3
-
24
-
-
84858295994
-
Epigenetic modifications in cancer
-
10.1111/j.1399-0004.2011.01809.x 22082348
-
Epigenetic modifications in cancer. Kanwal R, Gupta S, Clin Genet 2012 81 303 311 10.1111/j.1399-0004.2011.01809.x 22082348
-
(2012)
Clin Genet
, vol.81
, pp. 303-311
-
-
Kanwal, R.1
Gupta, S.2
-
25
-
-
75049083298
-
Genome-scale approaches to the epigenetics of common human disease
-
10.1007/s00428-009-0847-2 19844740
-
Genome-scale approaches to the epigenetics of common human disease. Feinberg AP, Virchows Arch 2010 456 13 21 10.1007/s00428-009-0847-2 19844740
-
(2010)
Virchows Arch
, vol.456
, pp. 13-21
-
-
Feinberg, A.P.1
-
26
-
-
84866988049
-
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21
-
10.1002/pd.3947 22833530
-
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, Prenat Diagn 2012 32 996 1001 10.1002/pd.3947 22833530
-
(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
-
27
-
-
84868645244
-
Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis
-
10.1038/nm.2915 22961155
-
Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Tong YK, Chiu RW, Chan KC, Leung TY, Lo YM, Nat Med 2012 18 1327 1328 10.1038/nm.2915 22961155
-
(2012)
Nat Med
, vol.18
, pp. 1327-1328
-
-
Tong, Y.K.1
Chiu, R.W.2
Chan, K.C.3
Leung, T.Y.4
Lo, Y.M.5
|