Kooper AJ - Search Results

1

Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.

Kooper AJ, Faas BH, Kater-Baats E, Feuth T, Janssen JC, van der Burgt I, Lotgering FK, van Kessel AG, Smits AP. Kooper AJ, et al. Prenat Diagn. 2008 Nov;28(11):1004-10. doi: 10.1002/pd.2111. Prenat Diagn. 2008. PMID: 18925610

2

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.

Kooper AJ, Janssens PM, de Groot AN, Liebrand-van Sambeek ML, van den Berg CJ, Tan-Sindhunata GB, van den Berg PP, Bijlsma EK, Smits AP, Wevers RA. Kooper AJ, et al. Clin Chim Acta. 2006 Sep;371(1-2):176-82. doi: 10.1016/j.cca.2006.03.007. Epub 2006 May 3. Clin Chim Acta. 2006. PMID: 16674934

3

Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.

Kooper AJ, de Bruijn D, van Ravenwaaij-Arts CM, Faas BH, Creemers JW, Thomas CM, Smits AP. Kooper AJ, et al. Prenat Diagn. 2007 Jan;27(1):29-33. doi: 10.1002/pd.1614. Prenat Diagn. 2007. PMID: 17154227

4

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study.

Boormans EM, Birnie E, Wildschut HI, Schuring-Blom HG, Oepkes D, van Oppen CA, Nijhuis JG, Macville MV, Kooper AJ, Huijsdens K, Hoffer MV, Go A, Creemers J, Bhola SL, Bilardo KM, Suijkerbuijk R, Bouman K, Galjaard RJ, Bonsel GJ, van Lith JM. Boormans EM, et al. Among authors: kooper aj. BMC Pregnancy Childbirth. 2008 May 20;8:18. doi: 10.1186/1471-2393-8-18. BMC Pregnancy Childbirth. 2008. PMID: 18492228 Free PMC article. Clinical Trial.

5

[Alpha-foetoprotein assessment in amniotic fluid for the detection of neural tube defects: limited added value beyond week 20 ultrasound; retrospective study].

Kooper AJ, Smits AP, Feuth AB, van der Burgt I, Zondervan HA, Quartero RW, Boekkooi PF, Rijnders RJ, Creemers JW, Thomas CM. Kooper AJ, et al. Ned Tijdschr Geneeskd. 2008 Aug 23;152(34):1876-81. Ned Tijdschr Geneeskd. 2008. PMID: 18788679 Dutch.

6

Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.

Kooper AJA, Faas BHW, Feuth T, Creemers JWT, Zondervan HH, Boekkooi PF, Quartero RWP, Rijnders RJP, van der Burgt I, van Kessel AG, Smits APT. Kooper AJA, et al. J Mol Diagn. 2009 Jan;11(1):17-24. doi: 10.2353/jmoldx.2009.070140. Epub 2008 Dec 12. J Mol Diagn. 2009. PMID: 19074591 Free PMC article.

7

Parent's attitudes towards full-scale prenatal testing for genetic disorders.

Pieters JJ, Kooper AJ, Smits AP, de Vries J. Pieters JJ, et al. Among authors: kooper aj. J Psychosom Obstet Gynaecol. 2009 Mar;30(1):42-7. doi: 10.1080/01674820802545842. J Psychosom Obstet Gynaecol. 2009. PMID: 19308782 Free article.

8

A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC. Mundhofir FE, et al. Among authors: kooper aj. Genet Couns. 2010;21(1):99-108. Genet Couns. 2010. PMID: 20420036

9

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.

Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N. Faas BH, et al. Among authors: kooper aj. J Med Genet. 2010 Sep;47(9):586-94. doi: 10.1136/jmg.2009.075853. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577003

10

Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidy.

Pieters JJ, Kooper AJ, Eggink AJ, Verhaak CM, Otten BJ, Braat DD, Smits AP, van Leeuwen E. Pieters JJ, et al. Among authors: kooper aj. Prenat Diagn. 2011 Mar;31(3):286-92. doi: 10.1002/pd.2707. Epub 2011 Feb 4. Prenat Diagn. 2011. PMID: 21294136

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