Smeets DF - Search Results

1

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.

de Leeuw N, Hehir-Kwa JY, Simons A, Geurts van Kessel A, Smeets DF, Faas BH, Pfundt R. de Leeuw N, et al. Among authors: smeets df. Cytogenet Genome Res. 2011;135(3-4):212-21. doi: 10.1159/000331273. Epub 2011 Sep 16. Cytogenet Genome Res. 2011. PMID: 21934286 Review.

2

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.

Kooper AJ, Faas BH, Feenstra I, de Leeuw N, Smeets DF. Kooper AJ, et al. Among authors: smeets df. Mol Cytogenet. 2014 Jan 16;7(1):6. doi: 10.1186/1755-8166-7-6. Mol Cytogenet. 2014. PMID: 24428858 Free PMC article.

3

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Swinkels ME, et al. Among authors: smeets df. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310. Am J Med Genet A. 2008. PMID: 18452192

4

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.

Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeets D, van Kessel AG, Veltman JA. Hehir-Kwa JY, et al. DNA Res. 2007 Feb 28;14(1):1-11. doi: 10.1093/dnares/dsm002. Epub 2007 Mar 15. DNA Res. 2007. PMID: 17363414 Free PMC article.

5

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB. Koolen DA, et al. Hum Mutat. 2009 Mar;30(3):283-92. doi: 10.1002/humu.20883. Hum Mutat. 2009. PMID: 19085936 Review.

6

A new case of dup(3q) syndrome due to a pure duplication of 3qter.

Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. Faas BH, et al. Among authors: smeets df. Clin Genet. 2002 Oct;62(4):315-20. doi: 10.1034/j.1399-0004.2002.620411.x. Clin Genet. 2002. PMID: 12372060

7

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.

8

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.

Oud MS, Ramos L, O'Bryan MK, McLachlan RI, Okutman Ö, Viville S, de Vries PF, Smeets DFCM, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LELM, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ. Oud MS, et al. Among authors: smeets dfcm. Hum Mutat. 2017 Nov;38(11):1592-1605. doi: 10.1002/humu.23312. Epub 2017 Sep 6. Hum Mutat. 2017. PMID: 28801929

9

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.

van Bon BW, Koolen DA, Feenstra I, Neefs I, Pfundt R, Smeets DF, de Vries BB. van Bon BW, et al. Among authors: smeets df. Clin Dysmorphol. 2007 Oct;16(4):279-82. doi: 10.1097/MCD.0b013e3282630818. Clin Dysmorphol. 2007. PMID: 17786124 Review.

10

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Benbouchta Y, De Leeuw N, Amasdl S, Sbiti A, Smeets D, Sadki K, Sefiani A. Benbouchta Y, et al. Ital J Pediatr. 2021 Sep 16;47(1):188. doi: 10.1186/s13052-021-01121-5. Ital J Pediatr. 2021. PMID: 34530895 Free PMC article.

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