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Browsing by Author Pfundt, R.

Full Text	Issue Date	Title	Author(s)
	2010	Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.	Reutlinger, C.; Helbig, I.; Gawelczyk, B., et al
	2005	Diagnostic genome profiling in mental retardation.	Vries, L.B.A. de; Pfundt, R.; Leisink, M.A.R., et al
	2007	Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aorta.	Heil, S.G.; Kluijtmans, L.A.J.; Vriese, A.S. de, et al
	2011	Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans.	Feenstra, I.; Vissers, L.E.L.M.; Pennings, R.J.E., et al
	2010	Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.	Bruno, D.L.; Anderlid, B.M.; Lindstrand, A., et al
	2006	Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.	Looijenga, L.H.J.; Hersmus, R.; Gillis, A.J.M., et al
	2005	High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis.	Jongh, G.J. de; Zeeuwen, P.L.J.M.; Kucharekova, M., et al
	2006	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.	Koolen, D.A.; Herbergs, J.; Veltman, J.A., et al
	2011	Homozygosity mapping in outbred families with mental retardation	Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Pfundt, R., et al
	2005	Identification of androgen-responsive genes that are alternatively regulated in androgen-dependent and androgen-independent rat prostate tumors.	Pfundt, R.; Smit, F.P.; Jansen, Corine, et al
	2010	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.	Willemsen, M.H.; Fernandez, B.A.; Bacino, C.A., et al
	2010	Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.	Faas, B.H.W.; Burgt, C.J.A.M. van der; Kooper, A.J.A., et al
	2006	Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines.	Roversi, G.; Pfundt, R.; Moroni, R.F., et al
	2005	Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses.	Magnani, I.; Moroni, R.F.; Roversi, G., et al
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den, et al
	2006	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.	Koolen, D.A.; Vissers, L.E.L.M.; Pfundt, R., et al
	2006	No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.	Kiemeney, L.A.L.M.; Kuiper, R.P.; Pfundt, R., et al
	2006	A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.	Ruiter, M.; Koolen, D.A.; Pfundt, R., et al
	2005	Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.	Schraders, M.; Pfundt, R.; Straatman, H.M.P.M., et al
	2007	A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.	Vermeer, S.; Koolen, D.A.; Visser, G., et al