Diane Van Opstal: search on Z-Library

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1

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

Malgorzata I Srebniak, Marjan Boter, Carla MA Verboven-Peerden, Gerda AG Looye-Bruinsma, Gretel Oudesluijs, Robert-Jan H Galjaard, Diane Van Opstal

Journal:

Molecular Cytogenetics

Year:

2011

Language:

english

File:

PDF, 359 KB

english, 2011

2

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

Diane Van Opstal, Marjan Boter, Petra Noomen, Malgorzata Srebniak, Guus Hamers, Robert-Jan H Galjaard

Journal:

Molecular Cytogenetics

Year:

2011

Language:

english

File:

PDF, 2.09 MB

english, 2011

3

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

Frans J. Los, Diane Van Opstal, Cardi Van Den Berg, Armando P. G. Braat, Senno Verhoef, Eveline Wesby-Van Swaay, Ans M. W. Van Den Ouweland, Dicky J. J. Halley

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 255 KB

english, 1998

4

Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases

Cardi van den Berg, Armando P. G. Braat, Diane Van Opstal, Dicky J. J. Halley, Wim J. Kleijer, Nicolette S. den Hollander, Helen Brandenburg, Leen Pijpers, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 233 KB

english, 1999

5

Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations

Diane van Opstal, Cardi van den Berg, Milena G. J. Jahoda, Helen Brandenburg, Frans J. Los, Peter A. In'T Veld

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 487 KB

english, 1995

6

Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY)

Cardi van den Berg, Diane Van Opstal, Helen Brandenburg, Frans J. Los

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 98 KB

english, 2000

7

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Srebniak, Malgorzata I., van Zutven, Laura J. C. M., Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P. J., Knapen, Maarten F. C. M., Cornette, Jerome M. J., Kremer, Andreas, Van Opstal, Diane, Did

Journal:

Molecular Cytogenetics

Year:

2016

Language:

english

File:

PDF, 983 KB

english, 2016

8

Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies

Cardi Van Den Berg, Sarvan K. Ramlakhan, Diane Van Opstal, Helen Brandenburg, Dicky J. J. Halley, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

9

The Use of Comparative Genomic Hybridization and Fluorescent In Situ Hybridization in Postmortem Pathology Investigation of Congenital Malformations

Goemaere, Natascha, Douben, Hannie, Van Opstal, Diane, Wouters, Cokkie, Tibboel, Dick, de Krijger, Ronald, de Klein, Annelies

Journal:

Pediatric and Developmental Pathology

Year:

2010

Language:

english

File:

PDF, 465 KB

english, 2010

10

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, A

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 218 KB

english, 2017

11

Nuchal translucency of 3.0â3.4 mm an indication for NIPT or microarray? â cohorts analysis and literature review

Petersen, Olav BjÃ¸rn, Smith, Eric, Van OpstaL, Diane, Polak, Marike, Knapen, Maarten F.C.M., Diderich, Karin E.M., Bilardo, Caterina Maddalena, Arends, Lidia R., Vogel, Ida, Ilona Srebniak, Malgorzat

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2020

File:

PDF, 970 KB

2020

12

Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation

van den Berg, Cardi, Pijpers, Leen, Halley, Dicky J.J., Opstal, Diane Van, Los, Frans J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.09 MB

english, 1999

13

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

Diane Van Opstal, Cardi van den Berg, Wout H. Deelen, Helen Brandenburg, Titia E. Cohen-Overbeek, Dicky J. J. Halley, Ans M. W. van den Ouweland, Peter A. In 't Veld, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 86 KB

english, 1998

14

A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

Diane Van Opstal, Jan O. Van Hemel, Bert H. J. Eussen, Annet Van Der Heide, Cardi Van Den Berg, Peter A. In't Veld, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 745 KB

english, 1995

15

Nasopharyngeal Teratoma and Mosaic Tetrasomy 1q Detected at Amniocentesis: A Case Report and Review of the Literature

Geoffrey C Beverstock, Paul Mollevanger, Marjolein Baaij, J Lind, Liesbeth van Ieperen, Margot M Bartelings, Katinka Teunissen, Helen Brandenburg, Diane Van Opstal, Frans Los

Journal:

Cancer Genetics and Cytogenetics

Year:

1999

Language:

english

File:

PDF, 1.08 MB

english, 1999

16

0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice

Srebniak, Malgorzata I., Mout, Lisanne, Van Opstal, Diane, Galjaard, Robert-Jan H.

Journal:

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

17

Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?

Srebniak, Malgorzata I., Vogel, Ida, Van Opstal, Diane

Journal:

Expert Review of Molecular Diagnostics

Year:

2018

Language:

english

File:

PDF, 835 KB

english, 2018

18

Unexpected finding of uniparental disomy mosaicism in term placentas: is it a common feature in trisomic placentas?

Van Opstal, Diane, Diderich, Karin E.M., Joosten, Marieke, Govaerts, Lutgarde C.P., Polak, Joke, Boter, Marjan, Saris, Jasper J., Cheung, Wai Yee, van Veen, Stefanie, van de Helm, Robert, Go, Attie T.

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 766 KB

english, 2018

19

Ring chromosome 18 in a fetus with only facial anomalies

Los, Frans J., van den Berg, Cardi, Braat, Armando P.G., Cha'ban, Firas K., Kros, Johan M., Opstal, Diane Van

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 491 KB

english, 1996

20

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Srebniak, Malgorzata, Boter, Marjan, Oudesluijs, Grétel, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Galjaard, Robert-Jan H

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 651 KB

english, 2011

21

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks

Frans J. Los, Cardi Van Den Berg, Diane Van Opstal, Petra Noomen, Armando P. G. Braat, Robert Jan H. Galjaard, Leen Pijpers, Titia E. Cohen-Overbeek, Hajo I. J. Wildschut, Helen Brandenburg

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 350 KB

english, 1998

22

A familial inverted duplication 2q33–q34 identified and delineated by multiple cytogenetic techniques

Bert H. Eussen, Ingrid van de Laar, Hannie Douben, Leo van Kempen, Ron Hochstenbach, Stella A. De Man, Diane Van Opstal, Annelies de Klein, Pino J. Poddighe

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 565 KB

english, 2007

23

Prevalence of Tetraploid Metaphases in Semidirect and Cultured Chorionic Villi

Noomen, Petra, van den Berg, Cardi, de Ruyter, Jacqueline L.M., Van Opstal, Diane, Los, Frans J.

Journal:

Fetal Diagnosis and Therapy

Year:

2001

Language:

english

File:

PDF, 133 KB

english, 2001

24

False-negative findings in chorionic villi

Frans J. Los, Diane Van Opstal

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 106 KB

english, 1999

25

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review

Laura J.C.M. Van Zutven, Yolande van Bever, Carolien C.M. Van Nieuwland, Gido C.M. Huijbregts, Diane Van Opstal, Anne R.M. von Bergh, Linda J.A. Corel, Dick Tibboel, Cokkie H. Wouters, Pino J. Poddigh

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 328 KB

english, 2009

26

The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi

Frans J. Los, Cardi van den Berg, Hajo I. J. Wildschut, Helen Brandenburg, Nicolette S. den Hollander, Ernst M. Schoonderwaldt, Leen Pijpers, Robert Jan H. Galjaard, Diane Van Opstal

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 175 KB

english, 2001

27

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)—difficulties in interpretation

Malgorzata Srebniak, Petra Noomen, Pedro dos Santos, Dicky Halley, Raoul van de Graaf, Lutgarde Govaerts, Cokkie Wouters, Robert-Jan Galjaard, Diane Van Opstal

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 122 KB

english, 2008

28

Clinical experience of unexpected findings in prenatal array testing

Joosten, Marieke, Diderich, Karin EM, Van Opstal, Diane, Govaerts, Lutgarde CP, Riedijk, Sam R, Prinsen, A Krista E, De Vries, Femke AT, Go, Attie TJI, Galjaard, Robert-Jan H, Srebniak, Malgorzata I

Journal:

Biomarkers in Medicine

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

29

Frequency of submicroscopic chromosome aberrations in pregnancies without increased risk for structural chromosome aberrations: a systematic review of literature and meta-analysis

Srebniak, Malgorzata I., Joosten, Marieke, Knapen, Maarten F.C.M., Arends, Lidia R., Polak, Marike, van Veen, Stefanie, Go, Attie, Van Opstal, Diane

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

30

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Van Opstal, Diane, Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen,

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 2.16 MB

english, 2019

31

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

Frans J. Los, Diane Van Opstal, Martin P. Schol, Johannes L. J. Gaillard, Helen Brandenburg, Ans M. W. Van Den Ouweland, Peter A. In 'T Veld

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 431 KB

english, 1995

32

FULL MONOSOMY 21, PRENATALLY DIAGNOSED BY FLUORESCENT IN SITU HYBRIDIZATION

ANNE M. S. JOOSTEN, SANDRA DE VOS, DIANE VAN OPSTAL, HELEN BRANDENBURG, JOHANNES L. J. GAILLARD, CHRISTL VERMEIJ-KEERS

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 442 KB

english, 1997

33

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

Srebniak, Malgorzata I., Govaerts, Lutgarde C. P., Diderich, Karin E. M., Joosten, Marieke, de Vries, Femke A. T., Galjaard, Robert-Jan H., Van Opstal, Diane

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 372 KB

english, 2015

34

Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results

Diane Van Opstal, Cardi van den Berg, Robert-Jan H. Galjaard, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 74 KB

english, 2001

35

Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies

Van Opstal, Diane, de Vries, Femke, Govaerts, Lutgarde, Boter, Marjan, Lont, Debora, van Veen, Stefanie, Joosten, Marieke, Diderich, Karin, Galjaard, Robert-Jan, Srebniak, Malgorzata I.

Journal:

Year:

2015

Language:

english

File:

PDF, 546 KB

english, 2015

36

Nonâinvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

Van Opstal, Diane, Eggenhuizen, Geerke M., Joosten, Marieke, Diderich, Karin, Govaerts, Lutgarde, Galjaard, RobertâJan, Go, Attie, Knapen, Maarten, Boter, Marjan, Cheung, Wai Yee, Koetsveld, Nicole,

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 1.68 MB

2020

37

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

Srebniak, Malgorzata I, Diderich, Karin EM, Govaerts, Lutgarde CP, Joosten, Marieke, Riedijk, Sam, Galjaard, Robert Jan H, Van Opstal, Diane

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 148 KB

english, 2014

38

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Huijsdens–van Amsterdam, Karin, Straver, Roy, van Maarle, Merel C, Knegt, Alida C, Van Opstal, Diane, Sleutels, Frank, Smeets, Dominique, Sistermans, Erik A

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 801 KB

english, 2018

39

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

Van Opstal, Diane, Srebniak, Malgorzata I

Journal:

Expert Review of Molecular Diagnostics

Year:

2016

Language:

english

File:

PDF, 788 KB

english, 2016

40

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Sistermans, Erik A., Van Opstal, Diane, Bekker, Mireille N., Pertile, Mark D.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 238 KB

english, 2019

41

Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi

Cardi van den Berg, Diane Van Opstal, Helen Brandenburg, Hajo I. J. Wildschut, Nicolette S. den Hollander, Leen Pijpers, Robert Jan H. Galjaard, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 168 KB

english, 2000

42

(Potential) false-negative diagnoses in chorionic villi and a review of the literature

Cardi van den Berg, Diane Van Opstal, Joke Polak-Knook, Robert Jan Galjaard

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

43

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

Riedijk, Sam, Diderich, Karin, van der Steen, Sanne, Govaerts, Lutgarde, Joosten, Marieke, Knapen, Maarten, de Vries, Femke, van Opstal, Diane, Tibben, Aad, Galjaard, Robert-Jan

Journal:

Journal of Clinical Medicine

Year:

2014

Language:

english

File:

PDF, 182 KB

english, 2014

44

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

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

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

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