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Implementing non‐invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expanding scope.
Published in:
Journal of Genetic Counseling, 2020, v. 29, n. 1, p. 112, doi. 10.1002/jgc4.1188
By:
- Bakkeren, Iris M.;
- Kater‐Kuipers, Adriana;
- Bunnik, Eline M.;
- Go, Attie T. J. I.;
- Tibben, Aad;
- Beaufort, Inez D.;
- Galjaard, Robert‐Jan H.;
- Riedijk, Sam R.
Publication type:
Article
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Published in:
Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 6, p. 1106, doi. 10.1111/aogs.14053
By:
- Diderich, Karin E. M.;
- Romijn, Kathleen;
- Joosten, Marieke;
- Govaerts, Lutgarde C. P.;
- Polak, Marike;
- Bruggenwirth, Hennie T.;
- Wilke, Martina;
- Slegtenhorst, Marjon A.;
- Bever, Yolande;
- Brooks, Alice S.;
- Mancini, Grazia M. S.;
- Laar, Ingrid M. B. H.;
- Kromosoeto, Joan N. R.;
- Knapen, Maarten F. C. M.;
- Go, Attie T. J. I.;
- Van Opstal, Diane;
- Hoefsloot, Lies H.;
- Galjaard, Robert‐Jan H.;
- Srebniak, Malgorzata I.
Publication type:
Article
Social and medical need for whole genome high resolution NIPT.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1062
By:
- Srebniak, Malgorzata I.;
- Knapen, Maarten F. C. M.;
- Govaerts, Lutgarde C. P.;
- Polak, Marike;
- Joosten, Marieke;
- Diderich, Karin E. M.;
- van Zutven, Laura J. C. M.;
- Prinsen, Krista A. K. E.;
- Riedijk, Sam;
- Go, Attie T. J. I.;
- Galjaard, Robert‐Jan H.;
- Hoefsloot, Lies H.;
- Van Opstal, Diane
Publication type:
Article
Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2898, doi. 10.1002/ajmg.a.38398
By:
- Baas, Martijn;
- Potuijt, Jacob W.P.;
- Hovius, Steven E.R.;
- Hoogeboom, A. Jeannette M.;
- Galjaard, Robert‐Jan H.;
- van Nieuwenhoven, Christianne A.
Publication type:
Article
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1283, doi. 10.1002/ajmg.a.37565
By:
- Tomaszewska, Agnieszka;
- Behrendt, Jakub;
- Boter, Marjan;
- Wawrzkiewicz‐Witkowska, Angelika;
- Bos, Marnix J.;
- Podbiol‐Palenta, Agnieszka;
- Godula‐Stuglik, Urszula;
- Galjaard, Robert‐Jan H.;
- Srebniak, Malgorzata I.
Publication type:
Article
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2347, doi. 10.1002/ajmg.a.36076
By:
- Tomaszewska, Agnieszka;
- Podbiol ‐ PalENta, Agnieszka;
- Boter, Marjan;
- Geisler, Gabriela;
- Wawrzkiewicz ‐ Witkowska, Angelika;
- Galjaard, Robert ‐ Jan H.;
- Zajączek, Stanislaw;
- Srebniak, Malgorzata I.
Publication type:
Article
A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1501, doi. 10.1002/ajmg.a.35912
By:
- Kowalczyk, Malgorzata;
- Tomaszewska, Agnieszka;
- Podbiol‐Palenta, Agnieszka;
- Remiszewska, Barbara;
- Galjaard, Robert Jan H.;
- Zajaczek, Stanislaw;
- Srebniak, Malgorzata I.
Publication type:
Article
Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results.
Published in:
Prenatal Diagnosis, 2001, v. 21, n. 2, p. 75, doi. 10.1002/1097-0223(200102)21:2<75::AID-PD990>3.0.CO;2-B
By:
- Van Opstal, Diane;
- van den Berg, Cardi;
- Galjaard, Robert-Jan H.;
- Los, Frans J.
Publication type:
Article
Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 10, p. 1023, doi. 10.1002/(SICI)1097-0223(1998100)18:10<1023::AID-PD402>3.0.CO;2-1
By:
- Los, Frans J.;
- Van Den Berg, Cardi;
- Van Opstal, Diane;
- Noomen, Petra;
- Braat, Armando P. G.;
- Galjaard, Robert Jan H.;
- Pijpers, Leen;
- Cohen-Overbeek, Titia E.;
- Wildschut, Hajo I. J.;
- Brandenburg, Helen
Publication type:
Article
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb–polysyndactyly syndrome changes the pattern of local interactions.
Published in:
Molecular Genetics & Genomics, 2022, v. 297, n. 5, p. 1343, doi. 10.1007/s00438-022-01921-2
By:
- Potuijt, Jacob W. P.;
- Sowinska-Seidler, Anna;
- Bukowska-Olech, Ewelina;
- Nguyen, Picard;
- Jankowski, Aleksander;
- Magielsen, Frank;
- Matuszewska, Karolina;
- van Nieuwenhoven, Christianne A.;
- Galjaard, Robert-Jan H.;
- de Klein, Annelies;
- Jamsheer, Aleksander
Publication type:
Article
Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT).
Published in:
Bioethics, 2020, v. 34, n. 7, p. 671, doi. 10.1111/bioe.12760
By:
- Kater‐Kuipers, Adriana;
- Beaufort, Inez D.;
- Galjaard, Robert‐Jan H.;
- Bunnik, Eline M.
Publication type:
Article
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 856, doi. 10.1038/ejhg.2013.254
By:
- Srebniak, Malgorzata I;
- Diderich, Karin EM;
- Govaerts, Lutgarde CP;
- Joosten, Marieke;
- Riedijk, Sam;
- Galjaard, Robert Jan H;
- Van Opstal, Diane
Publication type:
Article
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1230, doi. 10.1038/ejhg.2011.119
By:
- Srebniak, Malgorzata;
- Boter, Marjan;
- Oudesluijs, Grétel;
- Joosten, Marieke;
- Govaerts, Lutgarde;
- Van Opstal, Diane;
- Galjaard, Robert-Jan H
Publication type:
Article
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 1, p. 112, doi. 10.1038/ejhg.2008.161
By:
- Van Opstal, Diane;
- Boter, Marjan;
- de Jong, Danielle;
- van den Berg, Cardi;
- Brüggenwirth, Hennie T.;
- Wildschut, Hajo I J.;
- de Klein, Annelies;
- Galjaard, Robert-Jan H.
Publication type:
Article
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 5, p. 409, doi. 10.1038/sj.ejhg.5200982
By:
- Galjaard, Robert-Jan H;
- Smits, Arie P T;
- Tuerlings, Joep H A M;
- Bais, Aagje G;
- Avella, Aida M Bertoli;
- Breedveld, Guido;
- Graaff, Esther de;
- Oostra, Ben A;
- Heutink, Peter
Publication type:
Article
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692
By:
- Galjaard, Robert-Jan H;
- Kostakoglu, Naci;
- Hoogeboom, Jeannette J M;
- Breedveld, Guido J;
- van der Linde, Herma C;
- Hovius, Steven ER;
- Oostra, Ben A;
- Sandkuijl, Lodewijk A;
- Akarsu, A Nurten;
- Heutink, Peter
Publication type:
Article
A multidisciplinary review of triphalangeal thumb.
Published in:
Journal of Hand Surgery (17531934), 2019, v. 44, n. 1, p. 59, doi. 10.1177/1753193418803521
By:
- Potuijt, Jacob W. P.;
- Galjaard, Robert-Jan H.;
- van der Spek, Peter J.;
- van Nieuwenhoven, Christianne A.;
- Ahituv, Nadav;
- Oberg, Kerby C.;
- Hovius, Steven E. R.
Publication type:
Article
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study.
Published in:
BMC Pregnancy & Childbirth, 2008, v. 8, p. 1, doi. 10.1186/1471-2393-8-18
By:
- Boormans, Elisabeth M. A.;
- Birnie, Erwin;
- Wildschut, Hajo I.;
- Schuring-Blom, Heleen G.;
- Oepkes, Dick;
- van Oppen, Carla A. C.;
- Nijhuis, Jan G.;
- Macville, Merryn V. E.;
- Kooper, Angelique J. A.;
- Huijsdens, Karin;
- Hoffer, Mariëtte V. J.;
- Go, Attie;
- Creemers, Johan;
- Bhola, Shama L.;
- Bilardo, Katia M.;
- Suijkerbuijk, Ron;
- Bouman, Katelijne;
- Galjaard, Robert-Jan H.;
- Bonsel, Gouke J.;
- van Lith, Jan M. M.
Publication type:
Article
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
Published in:
Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0279-z
By:
- Srebniak, Malgorzata I.;
- de Wit, Merel C.;
- Diderich, Karin E. M.;
- Govaerts, Lutgarde C. P.;
- Joosten, Marieke;
- Knapen, Maarten F. C. M.;
- Bos, Marnix J.;
- Looye-Bruinsma, Gerda A. G.;
- Koningen, Mieke;
- Go, Attie T. J. I.;
- Galjaard, Robert Jan H.;
- Van Opstal, Diane
Publication type:
Article
Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.
Published in:
Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 1, doi. 10.1186/1755-8166-4-2
By:
- Van Opstal, Diane;
- Boter, Marjan;
- Noomen, Petra;
- Srebniak, Malgorzata;
- Hamers, Guus;
- Galjaard, Robert-Jan H.
Publication type:
Article
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
Published in:
PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0146794
By:
- Van Opstal, Diane;
- Srebniak, Malgorzata I.;
- Polak, Joke;
- de Vries, Femke;
- Govaerts, Lutgarde C. P.;
- Joosten, Marieke;
- Go, Attie T. J. I.;
- Knapen, Maarten F. C. M.;
- van den Berg, Cardi;
- Diderich, Karin E. M.;
- Galjaard, Robert-Jan H.
Publication type:
Article
Current practice of first‐trimester ultrasound screening for structural fetal anomalies in developed countries.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 7, p. 873, doi. 10.1002/pd.6389
By:
- Bronsgeest, Kim;
- Lust, Eline E. R.;
- Henneman, Lidewij;
- Crombag, Neeltje;
- Bilardo, Caterina M.;
- Stemkens, Daphne;
- Galjaard, Robert‐Jan H.;
- Sikkel, Esther;
- van der Hout, Sanne H.;
- Bekker, Mireille N.;
- Haak, Monique C.
Publication type:
Article
Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 7, p. 829, doi. 10.1002/pd.6388
By:
- van Eekhout, Jacintha C. A.;
- Bekker, Mireille N.;
- Bax, Caroline J.;
- Galjaard, Robert‐Jan H.
Publication type:
Article
A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 3, p. 294, doi. 10.1002/pd.6329
By:
- Lannoo, Lore;
- van der Meij, Karuna R. M.;
- Bekker, Mireille N.;
- De Catte, Luc;
- Deckers, Sarah;
- Devriendt, Koenraad;
- Roggen, Nele;
- Galjaard, Robert‐Jan H.;
- Gitsels‐van der Wal, Janneke;
- Macville, Merryn V. E.;
- Martin, Linda;
- Sistermans, Erik A.;
- Van Calsteren, Kristel;
- Van Keirsbilck, Joachim;
- Crombag, Neeltje;
- Henneman, Lidewij
Publication type:
Article
Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods.
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 11, p. 1395, doi. 10.1002/pd.6043
By:
- van der Meij, Karuna R. M.;
- Kooij, Caroline;
- Bekker, Mireille N.;
- Galjaard, Robert‐Jan H.;
- Henneman, Lidewij
Publication type:
Article
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Published in:
Prenatal Diagnosis, 2018, v. 38, n. 12, p. 911, doi. 10.1002/pd.5354
By:
- Van Opstal, Diane;
- Diderich, Karin E.M.;
- Joosten, Marieke;
- Govaerts, Lutgarde C.P.;
- Polak, Joke;
- Boter, Marjan;
- Saris, Jasper J.;
- Cheung, Wai Yee;
- Veen, Stefanie;
- Helm, Robert;
- Go, Attie T.J.I.;
- Knapen, Maarten F.C.M.;
- Papatsonis, Dimitri N.M.;
- Dijkman, Anneke;
- Vries, Femke;
- Galjaard, Robert‐Jan H.;
- Hoefsloot, Lies H.;
- Srebniak, Malgorzata I.
Publication type:
Article
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Published in:
2018
By:
- Van Opstal, Diane;
- Diderich, Karin E.M.;
- Joosten, Marieke;
- Govaerts, Lutgarde C.P.;
- Polak, Joke;
- Boter, Marjan;
- Saris, Jasper J.;
- Cheung, Wai Yee;
- Veen, Stefanie;
- Helm, Robert;
- Go, Attie T.J.I.;
- Knapen, Maarten F.C.M.;
- Papatsonis, Dimitri N.M.;
- Dijkman, Anneke;
- Vries, Femke;
- Galjaard, Robert‐Jan H.;
- Hoefsloot, Lies H.;
- Srebniak, Malgorzata I.;
- van Veen, Stefanie;
- van de Helm, Robert
Publication type:
journal article
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.
Published in:
2016
By:
- Oepkes, Dick;
- Page‐Christiaens, G. C. (Lieve);
- Bax, Caroline J.;
- Bekker, Mireille N.;
- Bilardo, Catia M.;
- Boon, Elles M. J.;
- Schuring‐Blom, G. Heleen;
- Coumans, Audrey B. C.;
- Faas, Brigitte H.;
- Galjaard, Robert‐Jan H.;
- Go, Attie T.;
- Henneman, Lidewij;
- Macville, Merryn V. E.;
- Pajkrt, Eva;
- Suijkerbuijk, Ron F.;
- Huijsdens‐van Amsterdam, Karin;
- Van Opstal, Diane;
- Verweij, E. J. (Joanne);
- Weiss, Marjan M.;
- Sistermans, Erik A.
Publication type:
journal article
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Published in:
Human Mutation, 2017, v. 38, n. 7, p. 880, doi. 10.1002/humu.23232
By:
- Srebniak, Malgorzata I.;
- Knapen, Maarten F.C.M.;
- Polak, Marike;
- Joosten, Marieke;
- Diderich, Karin E.M.;
- Govaerts, Lutgarde C.P.;
- Boter, Marjan;
- Kromosoeto, Joan N.R.;
- Hassel, Daniella Aloysia C.M.;
- Huijbregts, Gido;
- IJcken, Wilfred F.J.;
- Heydanus, Roger;
- Dijkman, Anneke;
- Toolenaar, Toon;
- Vries, Femke A.T.;
- Knijnenburg, Jeroen;
- Go, Attie T.J.I.;
- Galjaard, Robert‐Jan H.;
- Opstal, Diane
Publication type:
Article
0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1298, doi. 10.1002/humu.22355
By:
- Srebniak, Malgorzata I.;
- Mout, Lisanne;
- Van Opstal, Diane;
- Galjaard, Robert‐Jan H.
Publication type:
Article

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