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Browsing by Author Pfundt, R.

Full Text	Issue Date	Title	Author(s)
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den; Beusekom, E. van; Pfundt, R., et al
	2011	De novo copy number variants associated with intellectual disability have a paternal origin and age bias	Hehir, J.Y.; Rodriguez-Santiago, B.; Vissers, L.E.L.M.; Leeuw, N. de; Pfundt, R., et al
	2011	The phenotype of recurrent 10q22q23 deletions and duplications	Bon, B.W. van; Balciuniene, J.; Fruhman, G.; Nagamani, S.C.; Broome, D.L., 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.; Nillesen, W.M.; Pfundt, R., et al
	2011	Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19	Bredrup, C.; Saunier, S.; Oud, M.M.; Fiskerstrand, T.; Hoischen, A., et al
	2011	SNP array analysis in constitutional and cancer genome diagnostics-copy number variants, genotyping and quality control.	Leeuw, N. de; Hehir-Kwa, J.Y.; Simons, A.; Geurts van Kessel, A.H.M.; Smeets, D.F., et al
	2011	Homozygosity mapping in outbred families with mental retardation	Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Pfundt, R.; Bon, B.W.M. van; Leeuw, N. de, et al
	2011	Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability	Willemsen, M.H.; Valles, A.; Kirkels, L.A.; Mastebroek, M.; Olde Loohuis, N., 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.; Gerkes, E.; Brouwer, A.P.M. de, et al
	2010	Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies.	Ruiter, M.; Pfundt, R.; Koolen, D.A.; Sistermans, E.A.; Nillesen, W.M., et al
	2010	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.	Bon, B.W.M. van; Koolen, D.A.; Brueton, L.; McMullan, D.; Lichtenbelt, K.D., 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.; Ravenswaaij-Arts, C.M.A. van; Ganesamoorthy, D., 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.; Pfundt, R.; Hehir, J.Y., et al
	2010	Accurate distinction of pathogenic from benign CNVs in mental retardation.	Hehir, J.Y.; Wieskamp, N.A.W.; Webber, C.; Pfundt, R.; Brunner, H.G., et al
	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.; Subero, J.I.; Tonnies, H., et al
	2010	Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.	Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de; Pfundt, R.; Leeuw, N. de, et al
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.C.; Oudakker, A.R., et al
	2010	Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.	Volpi, L.; Roversi, G.; Colombo, E.A.; Leijsten, N.; Concolino, D., et al
	2008	Reduced purifying selection prevails over positive selection in human copy number variant evolution.	Nguyen, D.Q.; Webber, C.; Hehir-Kwa, J.; Pfundt, R.; Veltman, J.A., et al
	2007	Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.	Vissers, L.E.L.M.; Stankiewicz, P.; Yatsenko, S.A.; Crawford, E.; Creswick, H., 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.; Brackel, H.J.; Burgt, I. van der, et al
	2007	Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.	Bon, B.W.M. van; Koolen, D.A.; Feenstra, I.; Neefs, I.; Pfundt, 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; Pfundt, R.; Blom, H.J.
	2007	Pure subtelomeric microduplications as a cause of mental retardation.	Ruiter, E.M.; Koolen, D.A.; Kleefstra, T.; Nillesen, W.M.; 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.; Leeuw, N. de; Klinkers, H.M., 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.; Leeuw, N. de; Knight, S.J., 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.; Pfundt, R.; Stoop, H.J., 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.; Magnani, I.; Reijmersdal, S.V. van, 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.; Pfundt, R.; Bokhoven, J.H.L.M. van, et al
	2006	Targeted disruption of the synovial sarcoma-associated SS18 gene causes early embryonic lethality and affects PPARBP expression.	Bruijn, D.R.H. de; Peters, W.J.M; Chuva de Sousa Lopes, S.M.; Dijk, A.H.A.; Willemse, M.P., 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.; Reijmersdal, S.V. van; Schoenberg, M.P., 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; Aalders, T.W.; Straatman, H.M.P.M., et al
	2005	Diagnostic genome profiling in mental retardation.	Vries, L.B.A. de; Pfundt, R.; Leisink, M.A.R.; Koolen, D.A.; Vissers, L.E.L.M., 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.; Janssen, I.M.; Geurts van Kessel, A.H.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.; Pfundt, R.; Valk, P.G.M. van der, 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.; Beghini, A.; Pfundt, R., et al
	1996	Constitutive and inducible expression of SKALP/Elafin provides anti-elastase defense in human epithelia	Pfundt, R.; Ruissen, F. van; Vlijmen-Willems, I.M.J.J. van; Alkemade, J.A.C.; Zeeuwen, P.L.J.M., et al
	1996	The cooperation between two silencers creates an enhancer element that controls both the lens-preferred and the differentiation stage-specific expression of the rat beta B2-crystallin gene	Dirks, R.P.H.; Kraft, H.J.; Genesen, S.T. van; Klok, E.J.; Pfundt, R., et al