-
1
-
-
0003815152
-
-
Gardner R.J.M. Sutherland G.R. Shaffer L.G. (eds). (4th edn) Oxford: New York, NY.
-
Gardner RJM, Sutherland GR, Shaffer LG, (eds). Chromosome Abnormalities and Genetic Counseling (4th edn) Oxford: New York, NY, 2012.
-
(2012)
Chromosome Abnormalities and Genetic Counseling
-
-
-
2
-
-
33748355113
-
Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss
-
Caughey AB, Hopkins LM, Norton ME,. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 2006; 108: 612-616.
-
(2006)
Obstet Gynecol
, vol.108
, pp. 612-616
-
-
Caughey, A.B.1
Hopkins, L.M.2
Norton, M.E.3
-
3
-
-
0037704145
-
First and second trimester antenatal screening for Down's syndrome: The results of the Serum, Urine and Ultrasound Screening Study (SURUSS)
-
Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM,. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003; 10: 56-104.
-
(2003)
J Med Screen
, vol.10
, pp. 56-104
-
-
Wald, N.J.1
Rodeck, C.2
Hackshaw, A.K.3
Walters, J.4
Chitty, L.5
MacKinson, A.M.6
-
4
-
-
84880045096
-
Position statement from the aneuploidy screening committee on behalf of the board of the International Society for Prenatal Diagnosis
-
Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B, Gross S, Johnson J, Maymon R, Norton M, Odibo A, Schielen P, Spencer K, Huang T, Wright D, Yaron Y,. Position statement from the aneuploidy screening committee on behalf of the board of the International Society for Prenatal Diagnosis. Prenat Diagn 2013; 33: 622-629.
-
(2013)
Prenat Diagn
, vol.33
, pp. 622-629
-
-
Benn, P.1
Borell, A.2
Chiu, R.3
Cuckle, H.4
Dugoff, L.5
Faas, B.6
Gross, S.7
Johnson, J.8
Maymon, R.9
Norton, M.10
Odibo, A.11
Schielen, P.12
Spencer, K.13
Huang, T.14
Wright, D.15
Yaron, Y.16
-
5
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS,. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-487.
-
(1997)
Lancet
, vol.350
, pp. 485-487
-
-
Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
Redman, C.W.6
Wainscoat, J.S.7
-
6
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu RWK, Chan KCA, Gao Y, Lau VYM, Zheng W, Leung TY, Foo CHF, Xie B, Tsui NBY, Lun FMF, Zee BCY, Lau TK, Cantor CR, Lo YMD,. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008; 105: 20458-20463.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 20458-20463
-
-
Chiu, R.W.K.1
Chan, K.C.A.2
Gao, Y.3
Lau, V.Y.M.4
Zheng, W.5
Leung, T.Y.6
Foo, C.H.F.7
Xie, B.8
Tsui, N.B.Y.9
Lun, F.M.F.10
Zee, B.C.Y.11
Lau, T.K.12
Cantor, C.R.13
Lo, Y.M.D.14
-
7
-
-
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 USA 2008; 105: 16266-162271.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 16266-162271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
Hudgins, L.4
Quake, S.R.5
-
8
-
-
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
-
9
-
-
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
-
-
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..
-
10
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler Transform
-
Li H, Durbin R,. Fast and accurate short read alignment with Burrows-Wheeler Transform. Bioinformatics 2009; 25: 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
11
-
-
77955255742
-
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
-
Fan HC, Quake SR,. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 2010; 5: e10439.
-
(2010)
PLoS One
, vol.5
-
-
Fan, H.C.1
Quake, S.R.2
-
12
-
-
0347898005
-
Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis
-
Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM,. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998; 62: 768-775.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 768-775
-
-
Lo, Y.M.1
Tein, M.S.2
Lau, T.K.3
Haines, C.J.4
Leung, T.N.5
Poon, P.M.6
Wainscoat, J.S.7
Johnson, P.J.8
Chang, A.M.9
Hjelm, N.M.10
-
13
-
-
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
-
-
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 III, 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
-
14
-
-
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
-
15
-
-
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
-
16
-
-
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
-
-
Sparks, A.B.1
Struble, C.A.2
Wang, E.T.3
Song, K.4
Oliphant, A.5
|