Research Complex Genetics
UMCU

Carolien G. F. de Kovel - Personal Page

Research Interests | Past Research | Publications |Students' Projects & Teaching | CV

Contact:

Portrait Carolien

Room 2.112 Stratenum
Universiteitsweg 100, de Uithof, UTRECHT,

P.O. Box 85060, 3508 AB Utrecht,
The Netherlands

Tel +31 (0)88 75 67925
Fax +31 (0)88 75 68479
email C.deKovel/a/umcutrecht.nl

Research Interests

Genetic basis of epilepsy

Within the range of epileptic syndromes, we focus on Idiopathic Generalised Epilepsy (IGE), and subtypes of this form. A sub-form of particular interest is IGE with photosensitivity (PPR).
We co-operate with many clinics in the Netherlands, under the flag of NIGO (Nederlands IGE Genetica Onderzoek). Within the EPICURE framework, we co-operate with other research groups within Europe. Within this framework, we participate in a genome-wide association study for IGE. For our studies, we use the usual tools of the trade, such as linkage studies, genetic association, and sequence analysis.

Complex diseases and population genetics

For complex traits, the genetic architecture is still unclear. To aid gene finding efforts, we try to elucidate the spatial distribution of disease alleles and of multilocus haplotypes, containing markers and functional mutations, across Europe. We use a combination of simulation models, algebra and empirical work.

Link to Complex Genetics Section: www.umcutrecht.nl/genetics


Publications


De Kovel C.G.F. , Franke B., Hol F.A., Lebrec J.J.P., Maassen B., Brunner H., Padberg G.W., Platko J., Pauls D.   (2007). Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection Am. J. Med. Genet. (B)  (in press) [MHT]

De Kovel C.G F., Pinto D., De Haan G.-J., Kasteleijn-Nolst Trenité D.G., Lindhout, D., Koeleman B.P.C.  (2007). Association analysis of BRD2 (RING3) and epilepsy in a Dutch Population Epilepsia 48: 2191-2192. [PDF]

De Kovel, C.G.F. (2006) The power of allele frequency comparisons to detect the footprint of selection in natural and experimental situations. Genetics Selection Evolution38: 3-23 [PDF]

De Kovel C.G F., Hol F.A., Heister J.G.A.M., Willemen J., Sandkuijl L.A., Franke B., Padberg G.W.  (2004). Genomewide scan identifies susceptibility locus for dyslexia
on Xq27 in an extended Dutch family. J Med Genet 41: 652-657. [PDF]

De Kovel C.G.F., De Jong G.. (2001). The effect of intra-specific competition on seedlings of sexual and apomictic Taraxacum officinale. Oikos 95: 25-30 [PDF]

De Kovel C.G.F., De Jong G.. (2000). Selection on apomictic lineages of Taraxacum at establishment in a mixed sexual-apomictic population. Journal of Evolutionary Biology 13: 561-568. [PDF]

De Kovel, C.G F., van Mierlo J.E.M., Wilms Y.J.O.  Berendse F. (2000). Carbon and nitrogen in soil and vegetation at sites differing in successional age. Plant Ecology 149: 43-50. [PDF]

De Kovel C.G.F., De Jong G. (1999). Responses of sexual and apomictic genotypes of Taraxacum officinale to variation in light, Plant Biology 1: 541-546

Elbers CC, de Kovel CGF, van der Schouw YT, Meijboom JR, Bauer F, Grobbee DE, Trynka G, van Vliet-Ostaptchouk JV, Wijmenga C, Onland-Moret C. (2009) Variants in Neuropeptide Y Receptor 1 and 5 Are Associated with Nutrient-Specific Food Intake and Are Under Recent Selection in Europeans , PloSOne 4 (9): e7070 [PDF]

Trynka G, Zhernakova A, Romanos J, Franke L, Hunt K, Turner G, Platteel M, Ryan AW, de Kovel C, Barisani D, Bardella MT, McManus R, Van Heel DA, Wijmenga C. (2009) Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling, Gut 58 1078-1083 [PDF]

Baas AF, Medic J, van ’t Slot R, de Kovel CGF, Zhernakova A, Geelkerken RH, Kranendonk SE, van Sterkenburg SM, Grobbee DE, Boll AP, Wijmenga C, Blankensteijn JD, Ruigrok YM (2009) Association of the TGF-beta receptor genes with abdominal aortic aneurysm, EJHG Epub Aug. 2009 [PDF]

Helbig ,I; Mefford, H.C. et al. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics 41: 160-162 [PDF]

Franke L. de Kovel C.G.F., Aulchenko Y.S., Trynka G., Zhernakova A., Hunt K.A., Blauw H.M., van den Berg L.H., Ophoff R., Deloukas P., van Heel D.A., Wijmenga C.   (2008). Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. American Journal of Human Genetics 82: 1316-1333. [PDF]

Parisi P., Piccioli M., de Sneeuw S., de Kovel C., van Nieuwenhuizen O., Buttinelli C., Villa M.P., Kasteleijn-Nolst Trenit? D.G.   (2008). Redefining headache diagnostic criteria as epileptic manifestation? Cephalalgia 28: 408-409. [PDF]

Koolen D.A., Nillesen W.M., Versteeg M.H.A., et al. (2004). Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA), Journal of Medical Genetics 41 (12): 892-899. [PDF]

Den Hollander, A.I.; van Lith-Verhoeven, J.J.C.; Kersten, F.F.J.; Heister, J.G.A.M.; de Kovel, C.G.F.; Deutman, A.F.; Hoyng, C.B.; Cremers, F.P.M. (2004). Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2. Journal Of Medical Genetics 41 (9): 699-702. [PDF]

Franke B., Klootwijk R., Lemmers B., De Kovel C.G.F., Steegers-Theunissen R.P.M., Mariman E.C.M. (2003). Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation. Birth Defects Research 67A: 979-984 [PDF]

De Jong, D.J., Franke B., Naber A.H.,Willemen J.J.,Heister A.J., Brunner H.G., Kovel C.G., Hol F.A. (2003). No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease. Eur. J. Hum. Genet. 11: 884-887. [PDF]

Arp, W., Berendse F., de Kovel C. (1997). Effects of global change on plant species composition. Change 34: 12-15. [PDF]

Fransen B.,  De Kroon H., De Kovel, C.G.F., Van den Bosch, F. (1999). Disentangling the effects of root foraging and inherent growth rate on plant biomass accumulation in heterogeneous environments: a modelling study, Ann. Bot. 84: 305-311 [PDF]

Van Oene H., Berendse F., De Kovel C. G. F. (1999). Model analysis of the effects of historic CO2 levels and nitrogen inputs on vegetation succession, Ecol. Appl. 9: 920-935 [PDF]


Book chapters

Windig, J.J., de Kovel, C.G.F. & De Jong, G. (2004) Genetics and mechanics of plasticity. In: Phenotypic Plasticity; Functional and Conceptual Approaches, S.M. Scheiner & Th. J. deWitt (eds), Oxford University Press

De Kovel, C.G.F. (2003). Dyslexie: genetische aspecten. In:  Handboek Stem- Spraak- en Taalpathologie Vol.20, Peters, H.F.M., Bastiaanse, R., van Borsel, J., Dejonckere, P.H.O., Jansonius-Schultheiss, K., Van der Meulen, Sj., Mondelaers, B.J.E. (eds), Bohn Stafleu van Loghum, Houten. [manuscript]

De Kovel C.G.F. (2004). Erfelijke aspecten van dyslexie. In: K.P. van den Bos and L. Verhoeven (eds), Leven met Dyslexie, Garant, Antwerpen. [manuscript]

Reports

Van Oene, H., F. Berendse, J. Alkemade, M. Bakkenes, F. Ihle and C. de Kovel, (1999) Assessment of Long-term Effects of Climate Change on Biodiversity and Vulnerability of Terrestrial Ecosystems, Report No. 410-200-032. Dutch National Research Programme on Global Air Pollution and Climate Change.

De Kovel, C.G.F. & Wilms, Y.J.O. (1995) Integrating the effects of climate change on terrestrial ecosystems. Climate change research: evaluation and policy implications. (ed. by S. Zwerver, R.S.A.R. van Rompaey, M.T.J. Kok et al.) pp. 715-718, Elevier Science, Amsterdam.

Geijn, S.C., P. Dijkstra, A. Gorissen, A.H.C.M. Schapendonk, K. Kramer, G.M.J. Mohren, F. Berendse, Th. Jetten, C. de Kovel., W. Takken., H. Lankreijer, A.W.L. Veen, W. Bouten, M.G. Schaap, J. Rozema, and A. Visser  (1995)  Assessment report on NRP subtheme "Effects of climate change on terrestrial ecosystems". In: Zwerver S., R.S.A.R. van Rompaey, M.T.J. Kok and M.M. Berk (eds): Climate Change Research: Evaluation and Policy Implications. Elsevier Science, Amsterdam, The Netherlands.




Brief C.V.

        Born 9 May 1969 in Dordrecht. Married to Laurens Smals, daughter Stella (2001).


Carolien de Kovel
Laatste wijziging: 21-09-2009