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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 936, doi. 10.1038/ejhg.2012.285
By:
- Croonen, Ellen A;
- Nillesen, Willy M;
- Stuurman, Kyra E;
- Oudesluijs, Gretel;
- van de Laar, Ingrid M B M;
- Martens, Liesbeth;
- Ockeloen, Charlotte;
- Mathijssen, Inge B;
- Schepens, Marga;
- Ruiterkamp-Versteeg, Martina;
- Scheffer, Hans;
- Faas, Brigitte H W;
- van der Burgt, Ineke;
- Yntema, Helger G
Publication type:
Article
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data.
Published in:
Clinical Chemistry, 2024, v. 70, n. 8, p. 1056, doi. 10.1093/clinchem/hvae068
By:
- Smeekens, Sanne P;
- Timmermans, Raoul;
- Westra, Dineke;
- Gilissen, Christian;
- Faas, Brigitte H W
Publication type:
Article
Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations.
Published in:
Clinical Chemistry, 2017, v. 63, n. 2, p. 495, doi. 10.1373/clinchem.2016.254813
By:
- Yu, Stephanie C. Y.;
- Peiyong Jiang;
- Chan, K. C. Allen;
- Faas, Brigitte H. W.;
- Choy, Kwong W.;
- Leung, Wing C.;
- Leung, Tak Y.;
- Lo, Y. M. Dennis;
- Chiu, Rossa W. K.
Publication type:
Article
Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.
Published in:
Clinical Chemistry, 2015, v. 61, n. 12, p. 1515, doi. 10.1373/clinchem.2015.244962
By:
- Mersy, Elke;
- Faas, Brigitte H. W.;
- Spierts, Sabine;
- Houben, Leonie M. H.;
- Macville, Merryn V. E.;
- Frints, Suzanna G. M.;
- Paulussen, Aimee D. C.;
- Veltman, Joris A.
Publication type:
Article
Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.
Published in:
Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-6
By:
- Kooper, Angelique J. A.;
- Faas, Brigitte H. W.;
- Feenstra, Ilse;
- De Leeuw, Nicole;
- Smeets, Dominique F. C. M.
Publication type:
Article
All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 4, p. 527, doi. 10.1002/pd.6314
By:
- Faas, Brigitte H. W.;
- Westra, Dineke;
- de Munnik, Sonja A.;
- van Rij, Maartje;
- Marcelis, Carlo;
- Joosten, Sara;
- Krapels, Ingrid;
- Vernimmen, Vivian;
- Heijligers, Malou;
- Willemsen, Marjolein H.;
- de Leeuw, Nicole;
- Rinne, Tuula;
- Pfundt, Rolph;
- Smeekens, Sanne P.;
- Stegmann, Sander P. A.;
- Macville, Merryn;
- Sikkel, Esther;
- Coumans, Audrey;
- Wijnberger, Lia;
- Derks, Irma
Publication type:
Article
Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations.
Published in:
2016
By:
- Neveling, Kornelia;
- Tjwan Thung, Djie;
- Beulen, Lean;
- Rens‐Buijsman, Wendy;
- Gomes, Ingrid;
- Heuvel, Simone;
- Mieloo, Hanneke;
- Derks‐Prinsen, Irma;
- Kater‐Baats, Ellen;
- Faas, Brigitte H. W.
Publication type:
journal article
Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 6, p. 549, doi. 10.1002/pd.4571
By:
- Beulen, Lean;
- Grutters, Janneke P. C.;
- Faas, Brigitte H. W.;
- Feenstra, Ilse;
- Groenewoud, Hans;
- Vugt, John M. G.;
- Bekker, Mireille N.
Publication type:
Article
The 2014 Malcolm Ferguson-Smith Young Investigator Award.
Published in:
2015
By:
- Bianchi, Diana W.;
- Chitty, Lyn S.;
- Deprest, Jan;
- Faas, Brigitte H. W.;
- Ghidini, Alessandro;
- Cousens, Rupert K. J.
Publication type:
Editorial
Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk.
Published in:
2015
By:
- Van Lith, Jan M. M.;
- Faas, Brigitte H. W.;
- Bianchi, Diana W.
Publication type:
Other
The 2013 Malcolm Ferguson-Smith Young Investigator Award.
Published in:
2014
By:
- Bianchi, Diana W.;
- Chitty, Lyn S.;
- Deprest, Jan;
- Faas, Brigitte H. W.;
- Ghidini, Alessandro;
- Cousens, Rupert K. J.
Publication type:
Editorial
Comment on 'Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization'.
Published in:
2014
By:
- Kooper, Angelique J. A.;
- Faas, Brigitte H. W.
Publication type:
Other
Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.
Published in:
Prenatal Diagnosis, 2014, v. 34, n. 4, p. 402, doi. 10.1002/pd.4312
By:
- Buysse, Karen;
- Ligt, Joep;
- Janssen, Irene M.;
- Bon, Bregje W. M.;
- Gomes, Ingrid;
- Hehir‐Kwa, Jayne;
- Eggink, Alex J.;
- Vugt, John M. G.;
- Vissers, Lisenka E. L. M.;
- Geurts van Kessel, Ad;
- Faas, Brigitte H. W.
Publication type:
Article
In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.
Published in:
Prenatal Diagnosis, 2014, v. 34, n. 1, p. 1, doi. 10.1002/pd.4288
By:
- Bianchi, Diana W.;
- Van Mieghem, Tim;
- Shaffer, Lisa G.;
- Faas, Brigitte H. W.;
- Chitty, Lyn S.;
- Ghidini, Alessandro;
- Deprest, Jan
Publication type:
Article
Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 6, p. 563, doi. 10.1002/pd.4111
By:
- Boon, Elles M. J.;
- Faas, Brigitte H. W.
Publication type:
Article
Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 1, p. 1, doi. 10.1002/pd.4007
By:
- Faas, Brigitte H. W.;
- Odibo, Anthony O.;
- Cirigliano, V.;
- Schielen, P.;
- Pergament, D.;
- Devers, P.;
- Oepkes, D.;
- Benn, P.
Publication type:
Article
2010 Report from the ISPD Special Interest Groups.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 3, p. 246, doi. 10.1002/pd.2686
By:
- Odibo, Anthony O.;
- Faas, Brigitte H. W.;
- Oepkes, Dick;
- Leung, T. Y.;
- Shulman, Lee
Publication type:
Article
Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.
Published in:
Prenatal Diagnosis, 2008, v. 28, n. 11, p. 1004, doi. 10.1002/pd.2111
By:
- Kooper, Angelique J. A.;
- Faas, Brigitte H. W.;
- Kater-Baats, Ellen;
- Feuth, Ton;
- Janssen, Jasper C. J. A.;
- van der Burgt, Ineke;
- Lotgering, Fred K.;
- Geurts van Kessel, Ad;
- Smits, Arie P. T.
Publication type:
Article
Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.
Published in:
2007
By:
- Kooper, Angelique J. A.;
- de Bruijn, Dagmar;
- van Ravenwaaij-Arts, Conny M. A.;
- Faas, Brigitte H. W.;
- Creemers, Johan W. T.;
- Thomas, Chris M. G.;
- Smits, Arie P. T.
Publication type:
journal article
Maternal Malignancies Detected With Noninvasive Prenatal Testing.
Published in:
2015
By:
- Sistermans, Erik;
- Straver, Roy;
- Faas, Brigitte H. W.
Publication type:
commentary
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
Published in:
Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x
By:
- Voermans, Nicol C.;
- Kleefstra, Tjitske;
- Gabreëls-Festen, Anneke A.;
- Faas, Brigitte H. W.;
- Kamsteeg, Erik-Jan;
- Houlden, Henry;
- Laurá, Matilde;
- Polke, James M.;
- Pandraud, Amelie;
- van Ruissen, Fred;
- van Engelen, Baziel G.;
- Reilly, Mary M.
Publication type:
Article

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