Academic Medical Center
University of Amsterdam
Meibergdreef 9, 1105AZ Amsterdam
Phone: +31 20 566 8844
Topics of interest
- Congenital abnormalities
- Genetically determined lipodystrophies
- Syndromic lipodystrophies
- Etiological studies
- Translational studies
Equipment and facilities of the group and centre
All clinical studies can be done; extensive facilities for metabolic studies; all molecular studies incl exome and geneome sequencing; limited functional work; limited animal studies.
Publications
- Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R*, Vermeesch JR*. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012;44:445-9,
- De Vos WH, Houben F, Hoebe RA, Hennekam R, van Engelen B, Manders EM, Ramaekers FC, Broers JL, Van Oostveldt P. Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins. Biochim Biophys Acta 2010;1800(4):448-58.
- Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg 2008;60:217-23.
- Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet 2006;140:2603-24
- Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet 2006;15:2509-22.
- Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 2005;14:1503-13.