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scopus: 12143672000

Schot, R.

(Rachel Schot)


patient brain syndrome mutation airway expression protein muscle analysis asthma inspiration figure control mct 8 study genet broblast family development mct 8 patients fi broblasts ier 3ip table disease genetic result polymicrogyria subject cause muscle bundles resistance change apoptosi retardation department fication erasmu deletion american journal microcephaly mct 8 expression number signi methacholine function respir month phenotype biopsy rotterdam abnormality control fi broblasts heterotopia chromosome airway hyperresponsiveness inspiration –induced bronchodilation response periventricular individual cortex defect group american pattern megalencephaly erasmus mc region bundle signi ficantly breath report epilepsy diagnosis dobyns wb identi effect anomaly erasmus university rotterdam desmin patient 1




10 Most Recent Publications

RTTN mutations link primary cilia function to organization of the human cerebral cortex (Article)
Kia, S.K. Verbeek, E. Brehm, A. Wit, M.C.Y. de Oegema, R. Dobyns, W.B. Verheijen, F.W. Mancini, G.M.S. Engelen, E. Schot, R. Poot, R. Coo, I.F.M. de Leguin, M. Poulton, C.J. Pourfarzad, F. Grosveld, F.G.
2012-09-07
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors (Article)
Poulton, C.J. Schot, R. Kia, S.K. Jones, M. Verheijen, F.W. Venselaar, H. Wit, M.C.Y. de Graaff, E. de Bertoli Avella, A.M. Mancini, G.M.S.
2011-08-12
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome (Article)
Visser, W.E. Swagemakers, S.M.A. Özgür, Z. Schot, R. Verheijen, F.W. IJcken, W.F.J. van Spek, P.J. van der
2010-08-12
KBG syndrome associated with periventricular nodular heterotopia (Article)
Oegema, R. Schot, R. Wit, M.C.Y. de Leguin, M. Oostenbrink, R. Coo, I.F.M. de Mancini, G.M.S.
2010-07-01
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (Article)
Verkerk, J.H.M. Schot, R. Wit, M.C.Y. de Wafelman, L.S. Garavelli, L. Dobyns, W.B. Spek, P.J. van der Klein, J.E.M.M. de Mancini, G.M.S. Waterschoot, L. van Douben, H. Poddighe, P. Leguin, M. Vries, L.S. de Terhal, P. Hahnemann, J.M.D. Coo, I.F.M. de
2010-06-01
Periventricular nodular heterotopia and distal limb deficiency: A recurrent association (Article)
Wit, M.C.Y. de Coo, I.F.M. de Schot, R. Hoogeboom, A.J.M. Leguin, M. Verkerk, J.H.M. Mancini, G.M.S.
2010-04-01
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy (Article)
Verkerk, J.H.M. Schot, R. Hirst, J. Wessels, M.W. Catsman-Berrevoets, C.E. Verheijen, F.W. Graaff, E. de Coo, I.F.M. de Kros, J.M. Willemsen, R. Willems, P.J. Spek, P.J. van der Dumee, B. Mancini, G.M.S. Schellekens, K. Swagemakers, S.M.A. Bertoli Avella, A.M. Leguin, M. Dudink, J. Govaert, P. Zwol, A.L. van
2009-07-10
Expression of smooth muscle and extracellular matrix proteins in relation to airway function in asthma (Article)
Slats, A.M. Janssen, K. Sterk, P.J. Schadewijk, A. van Plas, D.T. van der Schot, R. Aardweg, J.G. van den Jongste, J.C. de Hiemstra, P.S. Mauad, T. Rabe, K.F.
2008-05-01
Cortical brain malformations: Effect of clinical, neuroradiological, and modern genetic classification (Article)
Wit, M.C.Y. de Leguin, M. Coo, I.F.M. de Brusse, E. Halley, D. Graaf, R. van de Schot, R. Verheijen, F.W. Mancini, G.M.S.
2008-03-01
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): Report of a new case (Article)
Garavelli, L. Guareschi, E. Frigieri, G. Zonari, P. Albertini, E. Della Giustina, E. Amarri, S. Banchini, G. Dobyns, W.B. Neri, G. Errico, S. Simoni, A. Bergonzini, P. Zollino, M. Gurrieri, F. Mancini, G.M.S. Schot, R. Spek, P.J. van der
2007-08-01