Schouten J - Search Results

1

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.

Strunk A, Abbes A, Stuitje AR, Hettinga C, Sepers EM, Snetselaar R, Schouten J, Asselman FL, Cuppen I, Lemmink H, van der Pol WL, Engel H. Strunk A, et al. Among authors: schouten j. Int J Neonatal Screen. 2019 May 15;5(2):21. doi: 10.3390/ijns5020021. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072980 Free PMC article.

2

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Wadman RI, Jansen MD, Stam M, Wijngaarde CA, Curial CAD, Medic J, Sodaar P, Schouten J, Vijzelaar R, Lemmink HH, van den Berg LH, Groen EJN, van der Pol WL. Wadman RI, et al. Among authors: schouten j. Brain Commun. 2020 Jun 8;2(2):fcaa075. doi: 10.1093/braincomms/fcaa075. eCollection 2020. Brain Commun. 2020. PMID: 32954327 Free PMC article.

3

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

Vijzelaar R, Snetselaar R, Clausen M, Mason AG, Rinsma M, Zegers M, Molleman N, Boschloo R, Yilmaz R, Kuilboer R, Lens S, Sulchan S, Schouten J. Vijzelaar R, et al. Among authors: schouten j. PLoS One. 2019 Jul 24;14(7):e0220211. doi: 10.1371/journal.pone.0220211. eCollection 2019. PLoS One. 2019. PMID: 31339938 Free PMC article.

4

MLPA for prenatal diagnosis of commonly occurring aneuploidies.

Schouten J, Galjaard RJ. Schouten J, et al. Methods Mol Biol. 2008;444:111-22. doi: 10.1007/978-1-59745-066-9_8. Methods Mol Biol. 2008. PMID: 18425475

5

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.

Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, Schouten JP, Errami A. Nygren AO, et al. Among authors: schouten jp. Nucleic Acids Res. 2005 Aug 16;33(14):e128. doi: 10.1093/nar/gni127. Nucleic Acids Res. 2005. PMID: 16106041 Free PMC article.

6

Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia.

Benard-Slagter A, Zondervan I, de Groot K, Ghazavi F, Sarhadi V, Van Vlierberghe P, De Moerloose B, Schwab C, Vettenranta K, Harrison CJ, Knuutila S, Schouten J, Lammens T, Savola S. Benard-Slagter A, et al. Among authors: schouten j. J Mol Diagn. 2017 Sep;19(5):659-672. doi: 10.1016/j.jmoldx.2017.05.004. Epub 2017 Jul 19. J Mol Diagn. 2017. PMID: 28736295 Free article.

7

Multiplex Ligation-dependent Probe Amplification (MLPA®) for the detection of copy number variation in genomic sequences.

Eijk-Van Os PG, Schouten JP. Eijk-Van Os PG, et al. Methods Mol Biol. 2011;688:97-126. doi: 10.1007/978-1-60761-947-5_8. Methods Mol Biol. 2011. PMID: 20938835

8

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G. Hogervorst FB, et al. Among authors: schouten jp. Cancer Res. 2003 Apr 1;63(7):1449-53. Cancer Res. 2003. PMID: 12670888

9

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Schouten JP, et al. Nucleic Acids Res. 2002 Jun 15;30(12):e57. doi: 10.1093/nar/gnf056. Nucleic Acids Res. 2002. PMID: 12060695 Free PMC article.

10

Optimal Fixation Conditions and DNA Extraction Methods for MLPA Analysis on FFPE Tissue-Derived DNA.

Atanesyan L, Steenkamer MJ, Horstman A, Moelans CB, Schouten JP, Savola SP. Atanesyan L, et al. Among authors: schouten jp. Am J Clin Pathol. 2017 Jan 1;147(1):60-68. doi: 10.1093/ajcp/aqw205. Am J Clin Pathol. 2017. PMID: 28122725 Free PMC article.

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