Smits AP - 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. Among authors: smits ap. Prenat Diagn. 2008 Nov;28(11):1004-10. doi: 10.1002/pd.2111. Prenat Diagn. 2008. PMID: 18925610

2

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. Among authors: smits ap. Prenat Diagn. 2007 Jan;27(1):29-33. doi: 10.1002/pd.1614. Prenat Diagn. 2007. PMID: 17154227

3

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.

4

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: smits ap. Prenat Diagn. 2011 Mar;31(3):286-92. doi: 10.1002/pd.2707. Epub 2011 Feb 4. Prenat Diagn. 2011. PMID: 21294136

5

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Faas BH, Nillesen W, Vermeer S, Weghuis DO, de Leeuw N, Smits AP, van Ravenswaaij-Arts CM. Faas BH, et al. Among authors: smits ap. Eur J Med Genet. 2008 Nov-Dec;51(6):511-9. doi: 10.1016/j.ejmg.2008.07.002. Epub 2008 Jul 19. Eur J Med Genet. 2008. PMID: 18691679

6

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Kooper AJ, Pieters JJ, Faas BH, Hoefsloot LH, van der Burgt I, Zondervan HA, Smits AP. Kooper AJ, et al. Among authors: smits ap. Mol Cytogenet. 2012 Jan 27;5(1):7. doi: 10.1186/1755-8166-5-7. Mol Cytogenet. 2012. PMID: 22281113 Free PMC article.

7

[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. Among authors: smits ap. Ned Tijdschr Geneeskd. 2008 Aug 23;152(34):1876-81. Ned Tijdschr Geneeskd. 2008. PMID: 18788679 Dutch.

8

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: smits ap. 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

9

Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility.

Pieters JJ, Kooper AJ, van Kessel AG, Braat DD, Smits AP. Pieters JJ, et al. Among authors: smits ap. ISRN Obstet Gynecol. 2011;2011:807106. doi: 10.5402/2011/807106. Epub 2011 Dec 12. ISRN Obstet Gynecol. 2011. PMID: 22191050 Free PMC article.

10

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. Among authors: smits ap. 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

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