Highlights
This year (2006) highlights were:
- The the VENI project ‘Aberrant epigenetic processes in preimplantation embryos versus cognitive outcome in mice and man' started (project leader dr. S.G.M. Frints.
- The European Multicenter Research Program ‘ Prader-Willi syndrome ‘A model linking gene expression, obesity and mental health' within the framework of the specific research and technological development program "Integrating and strengthening the European Research Area" (Contract number LSHM-CT-2005-512136, prof.dr. LMG Curfs, co-applicant) started.
- IASSID Europe Congress. From 2-5 August 2006, the second IASSID Europe congress was organised and took place in Maastricht. The theme for this Congress was: Bridging Research, Policy and Practice. The congress was attended by 600 participants. The abstract book was the summer edition of JARID.
- As a new initiative an outpatient clinic for the adult intellectual disabled persons was founded. The model is a transition outpatient clinic: from pediatrician/child neurologist as coordinating medical specialist, to the adult specialist for the mentally retarded (Arts voor Verstandelijk Gehandicapten or AVG). This multidisciplinary outpatient clinic combines the expertise of our department with the expertise of the department of General Practice and AVG's.
Selected publications
Smeets, E.E.J., Julu, P.O.O., Waardenburg, van D., Witt Engerstrom, I., Hansen, S., Apartoupoulos, F., Curfs, L.M.G. & Schrander-Stumpel, C.T.R.M.
Management of severe forceful breather with Rett syndrome using carbogen.
Brain and Development, 2006, 63, 223-231
Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelley J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG.
Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH.
J Med Genet 2006;43:362-370. IF 4.33
Grants
"Aberrant epigenetic processes in preimplantation embryos versus cognitive outcome in mice and man."
This ZonMW Veni grant was obtained by dr. S.G.M. Frints. The project ‘aberrant epigenetic processes in preimplantation embryos versus cognitive outcome in mice and man started in july 2006 (project leader dr. S.G.M. Frints).
Research group
Prof. dr. C.T.R.M. Schrander-Stumpel, project leader
Prof. dr. L.M.G. Curfs, project leader
Prof. dr. J.P. Fryns
Prof. dr. J.G.P.L.E. Steyaert
Dr. U.Moog
Dr. E.E.J. Smeets
Dr. S.G.M. Frints
Dr. D. Marcus-Soekarman
Dr. E. Rubio
Dr. I.P.C. Krapels
PhD students
Drs. M.Sinnema
Drs. A. Wagemans
Drs. R. Evers
Drs. Ph. Collin
Drs. W. Braam
Drs. A. Maas
Drs. I. Tuffrey-Wijne
Dr. J.Engelen and his cytogenetic technicians
Dr. H. Smeets and his molecular technicians
Dr. J. Herbergs
Drs. K. van Roozendaal