-
1
-
-
81455144813
-
Application of SNP array for rapid prenatal diagnosis: Implementation, genetic counselling and diagnostic flow
-
Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ,. Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow. Eur J Hum Genet 2011; 19: 1230-1237.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1230-1237
-
-
Srebniak, M.1
Boter, M.2
Oudesluijs, G.3
Joosten, M.4
Govaerts, L.5
Van Opstal, D.6
Galjaard, R.J.7
-
2
-
-
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-S26.
-
(2012)
Expert Opin Biol Ther
, Issue.12
-
-
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
-
3
-
-
84889604341
-
Two cases of placental T21 mosaicism: Challenging the detection limits of non-invasive prenatal testing
-
Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, Wu Y, Han X, Ma D, Liu Z, Cram D, Cheng W,. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn 2013; 33: 1207-1210.
-
(2013)
Prenat Diagn
, vol.33
, pp. 1207-1210
-
-
Wang, Y.1
Zhu, J.2
Chen, Y.3
Lu, S.4
Chen, B.5
Zhao, X.6
Wu, Y.7
Han, X.8
Ma, D.9
Liu, Z.10
Cram, D.11
Cheng, W.12
-
4
-
-
77956148948
-
Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex?
-
Xu J, Siu VM,. Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex? Prenat Diagn 2010; 30: 839-844.
-
(2010)
Prenat Diagn
, vol.30
, pp. 839-844
-
-
Xu, J.1
Siu, V.M.2
-
5
-
-
80054890884
-
Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric y chromosomes
-
Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N,. Correlation of intercentromeric distance, mosaicism, and sexual phenotype: molecular localization of breakpoints in isodicentric Y chromosomes. Am J Med Genet A 2011; 155A: 2705-2712.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2705-2712
-
-
Beaulieu Bergeron, M.1
Brochu, P.2
Lemyre, E.3
Lemieux, N.4
-
6
-
-
84862325903
-
Molecular and clinical characteristics of 26 cases with structural y chromosome aberrations
-
Kim JW, Park SY, Ryu HM, Lee DE, Lee BY, Kim SY, Park YS, Lee HS, Seo JT,. Molecular and clinical characteristics of 26 cases with structural Y chromosome aberrations. Cytogenet Genome Res 2012; 136: 270-277.
-
(2012)
Cytogenet Genome Res
, vol.136
, pp. 270-277
-
-
Kim, J.W.1
Park, S.Y.2
Ryu, H.M.3
Lee, D.E.4
Lee, B.Y.5
Kim, S.Y.6
Park, Y.S.7
Lee, H.S.8
Seo, J.T.9
-
7
-
-
0028207074
-
The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods
-
Pittalis MC, Dalpra L, Torricelli F, Rizzo N, Nocera G, Cariati E, Santarini L, Tibiletti MG, Agosti S, Bovicelli L,. The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 1994; 14: 267-278.
-
(1994)
Prenat Diagn
, vol.14
, pp. 267-278
-
-
Pittalis, M.C.1
Dalpra, L.2
Torricelli, F.3
Rizzo, N.4
Nocera, G.5
Cariati, E.6
Santarini, L.7
Tibiletti, M.G.8
Agosti, S.9
Bovicelli, L.10
-
8
-
-
33646772168
-
Potential false-negative diagnoses in chorionic villi and a review of the literature
-
van den Berg C, Van Opstal D, Polak-Knook J, Galjaard RJ,. (Potential) false-negative diagnoses in chorionic villi and a review of the literature. Prenat Diagn 2006; 26: 401-408.
-
(2006)
Prenat Diagn
, vol.26
, pp. 401-408
-
-
Van Den Berg, C.1
Van Opstal, D.2
Polak-Knook, J.3
Galjaard, R.J.4
-
9
-
-
84880035770
-
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
-
Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE,. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013; 33: 667-674.
-
(2013)
Prenat Diagn
, vol.33
, pp. 667-674
-
-
Canick, J.A.1
Palomaki, G.E.2
Kloza, E.M.3
Lambert-Messerlian, G.M.4
Haddow, J.E.5
-
10
-
-
84873257075
-
Fetal aneuploidy screening by maternal plasma DNA sequencing: 'False positive' due to confined placental mosaicism
-
Choi H, Lau TK, Jiang FM, Chan MK, Zhang HY, Lo PS, Chen F, Zhang L, Wang W,. Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. Prenat Diagn 2013; 33: 198-200.
-
(2013)
Prenat Diagn
, vol.33
, pp. 198-200
-
-
Choi, H.1
Lau, T.K.2
Jiang, F.M.3
Chan, M.K.4
Zhang, H.Y.5
Lo, P.S.6
Chen, F.7
Zhang, L.8
Wang, W.9
-
11
-
-
84881610903
-
0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice
-
Srebniak MI, Mout L, Van Opstal D, Galjaard RJ,. 0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice. Hum Mutat 2013; 34: 1298-1303.
-
(2013)
Hum Mutat
, vol.34
, pp. 1298-1303
-
-
Srebniak, M.I.1
Mout, L.2
Van Opstal, D.3
Galjaard, R.J.4
|