View Author
patient chromosome duplication genet chromosomal karyotyping analysis region study genetic genomic translocation array-based /mr patients array number probe defect author gata 4 manuscript abnormality syndrome / european journal netherland deletion heart retardation rearrangement investigation genome referral cytogenetic j med genet nih-pa gata 4 duplication autism table result identi array-based methods department breakpoint heart defects diaphragmatic hernia family expression inversion imbalance method trisomy metaphase genomic hybridization identi fied delay heart defect disorder aberration subject author manuscript nipa 1 pubmed pmc 2006 array-based investigation fication 19 q 12 trisomy 11 q journal centre gain het utrecht detection european phenotype unselected control level chromosomal abnormalities mutation loss het
6 Most Recent Publications
|
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
(Article)
Harakalova, M. Smagt, J.J. van der Wessels, M.W. Baars, H.F. Weiss, M.M. Pals, G. Golmard, L. Jeunemaitre, X. Lindhout, D. Cuppen, E. Baas, A.F. Kovel, C.G.F. de Slot, R.V. Poot, M. Nijman, I.J. Medic, J. Joziasse, I.C. Deckers, J.W. Roos-Hesselink, J.W. |
2013-05-01
|
|
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12
(Article)
Bartsch, O. Schindler, D. Poot, M. Beyer, V. Gesk, S. Van'T Slot, R. Feddersen, I. Buijs, A. Jaspers, N.G.J. Siebert, R. Haaf, T. |
2012-01-01
|
|
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
(Article)
Zwaag, B. van der Staal, W.G. Buizer-Voskamp, J.E. Nelen, M.R. Berg, L.H. van den Ploos van Amstel, H.K. Engeland, H. van Burbach, J.P.H. Hochstenbach, R. Poot, M. Spierenburg, H.A. Jonge, M.V. de Verbeek, N.E. Slot, R. van 't Es, M.A. van Freitag, C.M. |
2010-06-01
|
|
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
(Article)
Hochstenbach, R. Binsbergen, E. van Engelen, J. Nieuwint, A. Polstra, A. Poddighe, P. Ruivenkamp, C.A. Sikkema-Raddatz, B. Smeets, D. Poot, M. |
2009-07-01
|
|
A duplication including GATA4 does not co-segregate with congenital heart defects
(Article)
Joziasse, I.C. Smagt, J.J. van der Poot, M. Hochstenbach, R. Nelen, M.R. Gijn, M. van Dooijes, D. Mulder, B.J.M. Doevendans, P.A. |
2009-05-01
|
|
Congenital diaphragmatic hernia associated with duplication of 11q23-qter.
(Article)
Klaassens, M. Scott, D.A. Lee, B. Tibboel, D. Klein, J.E.M.M. de Dooren, M.F. van Hochstenbach, R. Eussen, B.H.J. Cai, W.W. Galjaard, R-J.H. Wouters, C. Poot, M. Laudij, J.A.M. |
2006-07-15
|