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Massively parallel sequencing of ataxia genes after array-based enrichment.
Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA. Hoischen A, et al. Among authors: vermeer s. Hum Mutat. 2010 Apr;31(4):494-9. doi: 10.1002/humu.21221. Hum Mutat. 2010. PMID: 20151403
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA. Koolen DA, et al. Among authors: vermeer s. J Med Genet. 2004 Dec;41(12):892-9. doi: 10.1136/jmg.2004.023671. J Med Genet. 2004. PMID: 15591274 Free PMC article.
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B. Vermeer S, et al. Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Neurogenetics. 2008. PMID: 18465152 Free PMC article.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. Callewaert BL, et al. Among authors: vermeer s. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H. Vermeer S, et al. J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24. J Mol Diagn. 2009. PMID: 19779133 Free PMC article.
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S, van de Warrenburg BP, Willemsen MA, Cluitmans M, Scheffer H, Kremer BP, Knoers NV. Vermeer S, et al. J Med Genet. 2011 Oct;48(10):651-9. doi: 10.1136/jmedgenet-2011-100210. Epub 2011 Aug 19. J Med Genet. 2011. PMID: 21856962 Review.
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
de Bot ST, Veldink JH, Vermeer S, Mensenkamp AR, Brugman F, Scheffer H, van den Berg LH, Kremer HP, Kamsteeg EJ, van de Warrenburg BP. de Bot ST, et al. Among authors: vermeer s. J Neurol. 2013 Mar;260(3):869-75. doi: 10.1007/s00415-012-6723-z. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108492
125 results