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Full Text	Issue Date	Title	Author(s)
	2012	Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies	Willemsen, M.H.; de Leeuw, N.; Brouwer, A.P.M. de; Pfundt, R.; Hehir, J.Y.; Yntema, H.G.; Nillesen, W.M.; de Vries, B.B.; Bokhoven, J.H.L.M. van; Kleefstra, T.
	2012	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.	Jongmans, M.C.J.; Verwiel, E.T.P.; Heijdra, Y.F.; Vulliamy, T.; Kamping, E.J.; Hehir, J.Y.; Bongers, M.H.F.; Pfundt, R.; Emst, J.E. van; Leeuwen, F.N. van; Gassen, K.L.I. van; Geurts van Kessel, A.H.M.; Dokal, I.; Hoogerbrugge-van der Linden, N.; Ligtenberg, M.J.L.; Kuiper, R.P.
	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.; Faas, B.H.W.; Pfundt, R.
	2011	Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly	Bon, B.W. van; Hoischen, A.; Hehir-Kwa, J.Y.; Brouwer, A.P. de; Ruivenkamp, C.; Gijsbers, A.C.; Marcelis, C.L.M.; Leeuw, N. de; Veltman, J.A.; Brunner, H.G.; Vries, B.B. de
	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.; Buitelaar, J.K.; Perez-Jurado, L.A.; Veltman, J.A.
	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; Kleefstra, T.; Willemsen, M.A.A.P.; Geurts van Kessel, A.H.M.; Brunner, H.G.; Veltman, J.A.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de; Vries, B.B. de
	2011	High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population	Collin, R.W.J.; Born, L.I. van den; Klevering, B.J.; Castro-Miro, M. de; Littink, K.W.; Arimadyo, K.; Azam, M.; Yazar, V.; Zonneveld, M.N.; Paun, C.C.; Siemiatkowska, A.M.; Strom, T.M.; Hehir, J.Y.; Kroes, H.Y.; Faber, J.T. de; Schooneveld, M.J. van; Heckenlively, J.R.; Hoyng, C.B.; Hollander, A.I. den; Cremers, F.P.M.
	2010	From copy number identification to copy number interpretation.	Hehir-Kwa, J.Y.
	2010	Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?	Jongmans, M.C.J.; Pfundt, R.P.; Hehir-Kwa, J.Y.; Brunner, H.G.; Kerstjens-Frederikse, W.S.
	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.; Gilissen, C.F.H.A.; Vries, L.B.A. de; Ponting, C.P.; Veltman, J.A.
	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.; Smits, A.P.T.; Leeuw, N. de
	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.; Kjaergaard, S.; Vianna-Morgante, A.M.; Kleefstra, T.; Ruiter, E.M.; Jehee, F.S.; Ullmann, R.; Schwartz, C.E.; Stratton, M.; Raymond, F.L.; Veltman, J.A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Froyen, G.; Chelly, J.; Ropers, H.H.; Moraine, C.; Gecz, J.; Knijnenburg, J.; Kant, S.G.; Hamel, B.C.J.; Rosenberg, C.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	2009	Forging links between human mental retardation-associated CNVs and mouse gene knockout models.	Webber, C.; Hehir-Kwa, J.Y.; Nguyen, D.Q.; Vries, L.B.A. de; Veltman, J.A.; Ponting, C.P.
	2009	Constitutional DNA copy number changes in ICSI children.	Woldringh, G.H.; Janssen, I.M.; Hehir-Kwa, J.Y.; Elzen, C. van den; Kremer, J.A.M.; Boer, P. de; Schoenmakers, E.F.P.M.
	2009	Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.	McMullan, D.J.; Bonin, M.; Hehir-Kwa, J.Y.; Vries, L.B.A. de; Dufke, A.; Rattenberry, E.; Steehouwer, M.; Moruz, L.M.; Pfundt, R.P.; Leeuw, N. de; Riess, A.; Altug-Teber, O.; Enders, H.; Singer, S.; Grasshoff, U.; Walter, M.; Walker, J.M.; Lamb, C.V.; Davison, E.V.; Brueton, L.; Riess, O.; Veltman, J.A.
	2009	Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.	Koolen, D.A.; Pfundt, R.P.; Leeuw, N. de; Hehir-Kwa, J.Y.; Nillesen, W.M.; Neefs, I.; Scheltinga, I.; Sistermans, E.A.; Smeets, D.F.C.M.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Vries, L.B.A. de
	2007	Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.	Hehir-Kwa, J.Y.; Egmont-Peterson, M.; Janssen, I.M.; Smeets, D.F.C.M.; Geurts van Kessel, A.H.M.; Veltman, J.A.
	2007	High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression.	Kuiper, R.P.; Schoenmakers, E.F.P.M.; Reijmersdal, S.V. van; Hehir-Kwa, J.Y.; Geurts van Kessel, A.H.M.; Leeuwen, F.N. van; Hoogerbrugge, P.M.
	2007	Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.	Hollander, A.I. den; Lopez, I.; Yzer, S.; Zonneveld, M.N.; Janssen, I.M.; Strom, T.M.; Hehir-Kwa, J.Y.; Veltman, J.A.; Arends, M.L.; Meitinger, T.; Musarella, M.A.; Born, L.I. van den; Fishman, G.A.; Maumenee, I.H.; Rohrschneider, K.; Cremers, F.P.M.; Koenekoop, R.K.

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