van 't Slot R - Search Results

1

Accurate determination of microsatellite allele frequencies in pooled DNA samples.

Schnack HG, Bakker SC, van 't Slot R, Groot BM, Sinke RJ, Kahn RS, Pearson PL. Schnack HG, et al. Eur J Hum Genet. 2004 Nov;12(11):925-34. doi: 10.1038/sj.ejhg.5201234. Eur J Hum Genet. 2004. PMID: 15305176

2

A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q.

Bakker SC, van der Meulen EM, Buitelaar JK, Sandkuijl LA, Pauls DL, Monsuur AJ, van 't Slot R, Minderaa RB, Gunning WB, Pearson PL, Sinke RJ. Bakker SC, et al. Am J Hum Genet. 2003 May;72(5):1251-60. doi: 10.1086/375143. Epub 2003 Apr 4. Am J Hum Genet. 2003. PMID: 12679898 Free PMC article.

3

An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia.

Jungerius BJ, Hoogendoorn ML, Bakker SC, Van't Slot R, Bardoel AF, Ophoff RA, Wijmenga C, Kahn RS, Sinke RJ. Jungerius BJ, et al. Mol Psychiatry. 2008 Nov;13(11):1060-8. doi: 10.1038/sj.mp.4002080. Epub 2007 Sep 25. Mol Psychiatry. 2008. PMID: 17893707

4

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BP. Kuiper JJ, et al. Hum Mol Genet. 2014 Nov 15;23(22):6081-7. doi: 10.1093/hmg/ddu307. Epub 2014 Jun 22. Hum Mol Genet. 2014. PMID: 24957906 Free PMC article.

5

Association of the TGF-beta receptor genes with abdominal aortic aneurysm.

Baas AF, Medic J, van 't Slot R, de Kovel CG, Zhernakova A, Geelkerken RH, Kranendonk SE, van Sterkenburg SM, Grobbee DE, Boll AP, Wijmenga C, Blankensteijn JD, Ruigrok YM. Baas AF, et al. Eur J Hum Genet. 2010 Feb;18(2):240-4. doi: 10.1038/ejhg.2009.141. Epub 2009 Aug 12. Eur J Hum Genet. 2010. PMID: 19672284 Free PMC article.

6

Discovery of variants unmasked by hemizygous deletions.

Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.

7

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF. Harakalova M, et al. Eur J Hum Genet. 2013 May;21(5):487-93. doi: 10.1038/ejhg.2012.206. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968129 Free PMC article.

8

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Poot M, Eleveld MJ, van 't Slot R, Ploos van Amstel HK, Hochstenbach R. Poot M, et al. Eur J Hum Genet. 2010 Jan;18(1):39-46. doi: 10.1038/ejhg.2009.120. Eur J Hum Genet. 2010. PMID: 19623214 Free PMC article.

9

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M. Engbers H, et al. Eur J Hum Genet. 2009 Jan;17(1):129-32. doi: 10.1038/ejhg.2008.168. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830230 Free PMC article.

10

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.

Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C. Monsuur AJ, et al. Nat Genet. 2005 Dec;37(12):1341-4. doi: 10.1038/ng1680. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282976

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