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Full Text	Issue Date	Title	Author(s)
	2012	Neuropsychological phenotyping of genetic syndromes	Egger, J.I.M.; Koolen, D.A.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Kleefstra, T.; Vries, L.B.A. de
	2011	Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis	Feenstra, I.; Hanemaaijer, N.; Sikkema-Raddatz, B.; Yntema, H.G.; Dijkhuizen, T.; Lugtenberg, D.; Verheij, J.; Green, A.; Hordijk, R.; Reardon, W.; Vries, B. de; Brunner, H.G.; Bongers, E.M.; Leeuw, N. de; Ravenswaaij-Arts, C.M.A. van
	2010	Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.	Ockeloen, C.W.; Leeuw, N. de; Mieloo, H.; Reijnen, I.G.; Vries, L.B.A. de
	2010	Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies.	Ruiter, M.; Pfundt, R.; Koolen, D.A.; Sistermans, E.A.; Nillesen, W.M.; Ravenswaaij, C.M.A. van; Vries, B. de; Willemsen, M.A.A.P.
	2010	A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.	Ruiter, E.M.; Kamsteeg, E.J.; Meroni, G.; Vries, L.B.A. de
	2010	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.	Hoischen, A.; Bon, B.W.M. van; Gilissen, C.F.H.A.; Arts, P.J.W.; Lier, B. van; Steehouwer, M.; Vries, P.F. de; Reuver, R. de; Wieskamp, N.A.W.; Mortier, G.; Devriendt, K.; Amorim, M.Z.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Oley, C.; Henderson, A.; Hayes, I.M.; Thompson, E.M.; Brunner, H.G.; Vries, L.B.A. de; Veltman, J.A.
	2010	A de novo paradigm for mental retardation.	Vissers, L.E.L.M.; Ligt, J. de; Gilissen, C.F.H.A.; Janssen, I.M.; Steehouwer, M.; Vries, P.F. de; Lier, B. van; Arts, P.J.W.; Wieskamp, N.A.W.; Rosario, M. del; Bon, B.W.M. van; Hoischen, A.; Vries, L.B.A. de; Brunner, H.G.; Veltman, J.A.
	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.; Lundin, J.; Martin, C.L.; Douglas, J.; Nowak, C.; Adam, M.P.; Kooy, R.F.; Aa, N. van der; Reyniers, E.; Weyer, G. van de; Stolte-Dijkstra, I.; Dijkhuizen, T.; Yeung, A.; Delatycki, M.; Borgstrom, B.; Thelin, L.; Cardoso, C.; Bon, B.W.M. van; Pfundt, R.; Vries, L.B.A. de; Wallin, A.; Amor, D.J.; James, P.A.; Slater, H.R.; Schoumans, J.
	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	UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.	Leeuw, N. de; Bulk, S.; Green, A.; Jaeckle-Santos, L.; Baker, L.A.; Zinn, A.R.; Kleefstra, T.; Smagt, J.J. van der; Vianne Morgante, A.M.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	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.; Ades, L.C.; Peters, G.; Gibson, K.; Moloney, S.; Novara, F.; Pramparo, T.; Bernardina, B. Dalla; Zoccante, L.; Balottin, U.; Piazza, F.; Pecile, V.; Gasparini, P.; Guerci, V.; Kets, M.; Pfundt, R.; Brouwer, A.P.M. de; Veltman, J.A.; Leeuw, N. de; Wilson, M.; Antony, J.; Reitano, S.; Luciano, D.; Fichera, M.; Romano, C.; Brunner, H.G.; Zuffardi, O.; Vries, L.B.A. de
	2009	Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.	Vries, B. de; Stam, A.H.; Kirkpatrick, M.; Molkot, K.R. van; Koenderink, J.B.; Heuvel, J.J.M.W. van den; Stunnenberg, B.; Goudie, D.; Shetty, J.; Jain, V.; Vark, J. van; Terwindt, G.M.; Frants, R.R.; Haan, J.; Maagdenberg, A.M. van den; Ferrari, M.D.
	2009	Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.	Schuurs-Hoeijmakers, J.H.M.; Vermeer, S.; Bon, B.W.M. van; Pfundt, R.P.; Marcelis, C.L.M.; Brouwer, A.P.M. de; Leeuw, N. de; Vries, L.B.A. de
	2009	Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.	Wessels, M.W.; Laar, I.M. van de; Roos-Hesselink, J.W.; Strikwerda, S.; Majoor-Krakauer, D.F.; Vries, L.B.A. de; Kerstjens-Frederikse, W.S.; Vos, Y.J.; Graaf, B.M. de; Bertoli-Avella, A.M.; Willems, P.J.
	2009	The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.	Buysse, K.; Reardon, W.; Mehta, L.; Costa, T.; Fagerstrom, C.; Kingsbury, D.J.; Anadiotis, G.; McGillivray, B.C.; Hellemans, J.; Leeuw, N. de; Vries, L.B.A. de; Speleman, F.; Menten, B.; Mortier, G.
	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	Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.	Aa, N. van der; Rooms, L.; Weyer, G. van de; Ende, J.J. van den; Reyniers, E.; Fichera, M.; Romano, C.; Chiaie, B. Delle; Mortier, G.; Menten, B.; Destree, A.; Maystadt, I.; Mannik, K.; Kurg, A.; Reimand, T.; McMullan, D.; Oley, C.; Brueton, L.; Bongers, E.M.H.F.; Bon, B.W.M. van; Pfundt, R.P.; Jacquemont, S.; Ferrarini, A.; Martinet, D.; Schrander-Stumpel, C.T.R.M.; Stegmann, A.P.; Frints, S.G.; Vries, L.B.A. de; Ceulemans, B.; Kooy, R.F.
	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	Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.	Vissers, L.E.L.M.; Bhatt, S.S.; Janssen, I.M.; Xia, Z.; Lalani, S.R.; Pfundt, R.P.; Derwinska, K.; Vries, L.B.A. de; Gilissen, C.F.H.A.; Hoischen, A.; Nesteruk, M.; Wisniowiecka-Kowalnik, B.; Smyk, M.; Brunner, H.G.; Cheung, S.W.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Stankiewicz, P.
	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
	2009	Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.	Bon, B.W.M. van; Mefford, H.C.; Menten, B.; Koolen, D.A.; Sharp, A.J.; Nillesen, W.M.; Innis, J.W.; Ravel, T.J. de; Mercer, C.L.; Fichera, M.; Stewart, H.; Connell, L.E.; Ounap, K.; Lachlan, K.; Castle, B.; Aa, N. van der; Ravenswaaij-Arts, C.M.A. van; Nobrega, M.A.; Serra-Juhe, C.; Simonic, I.; Leeuw, N. de; Pfundt, R.P.; Bongers, E.M.H.F.; Baker, C.; Finnemore, P.; Huang, S.; Maloney, V.K.; Crolla, J.A.; Kalmthout, M. van; Elia, M.; Weyer, G. van de; Fryns, J.P.; Janssens, S.; Foulds, N.; Reitano, S.; Smith, K.; Parkel, S.; Loeys, B.; Woods, C.G.; Oostra, A.; Speleman, F.; Pereira, A.C.; Kurg, A.; Willatt, L.; Knight, S.J.; Vermeesch, J.R.; Romano, C.; Barber, J.C.; Mortier, G.; Perez-Jurado, L.A.; Kooy, F.; Brunner, H.G.; Eichler, E.E.; Kleefstra, T.; Vries, L.B.A. de
	2008	Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.	Bon, B.W.M. van; Koolen, D.A.; Pfundt, R.P.; Burgt, I. van der; Leeuw, N. de; Vries, L.B.A. de
	2008	A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.	Leeuw, N. de; Pfundt, R.P.; Koolen, D.A.; Neefs, I.; Scheltinga, I.; Mieloo, H.; Sistermans, E.A.; Nillesen, W.; Smeets, D.F.C.M.; Vries, L.B.A. de; Knoers, N.V.A.M.
	2008	Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.	Contopoulos-Ioannidis, D.; Evangeliou, A.; Laak, H. ter; Vries, B. de; Pfundt, R.P.; Scheffer, H.; Smeitink, J.A.M.; Tzoufi, M.; Makis, A.; Marinos, E.; Hess, R.; Adams, D.; Huizing, M.; Morava, E.
	2008	Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.	Shahdadpuri, R.; Vries, B. de; Pfundt, R.P.; Leeuw, N. de; Reardon, W.
	2008	A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.	Day, R.; Beckett, B.; Donnai, D.; Fryer, A.; Heidenblad, M.; Howard, P.; Kerr, B.; Mansour, S.; Maye, U.; McKee, S.; Mohammed, S.; Sweeney, E.; Tassabehji, M.; Vries, L.B.A. de; Clayton-Smith, J.
	2008	[Sudden blindness: consider Leber's hereditary optic neuropathy]	Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.
	2008	Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.	Swinkels, M.E.; Simons, A.; Smeets, D.F.C.M.; Vissers, L.E.L.M.; Veltman, J.A.; Pfundt, R.P.; Vries, L.B.A. de; Faas, B.H.W.; Schrander-Stumpel, C.T.; McCann, E.; Sweeney, E.; May, P.; Draaisma, J.M.T.; Knoers, N.V.A.M.; Geurts van Kessel, A.H.M.; Ravenswaaij-Arts, C.M.A. van
	2008	Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.	Castro, M.J.; Nunes, B.; Vries, B. de; Lemos, C.; Molkot, K.R. van; Heuvel, J.J.M.W. van den; Temudo, T.; Barros, J.; Sequeiros, J.; Frants, R.R.; Koenderink, J.B.; Pereira-Monteiro, J.M.; Maagdenberg, A.M. van den
	2008	Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.	Koolen, D.A.; Sistermans, E.A.; Nilessen, W.; Knight, S.J.; Regan, R.; Liu, Y.T.; Kooy, R.F.; Rooms, L.; Romano, C.; Fichera, M.; Schinzel, A.; Baumer, A.; Anderlid, B.M.; Schoumans, J.; Geurts van Kessel, A.H.M.; Nordenskjold, M.; Vries, L.B.A. de
	2008	Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.	Bon, B.W.M. van; Koolen, D.A.; Borgatti, R.; Magee, A.; Garcia-Minaur, S.; Rooms, L.; Reardon, W.; Zollino, M.; Bonaglia, M.C.; Gregori, M. de; Novara, F.; Grasso, R.; Ciccone, R.; Duyvenvoorde, H.A. van; Aalbers, A.M.; Guerrini, R.; Fazzi, E.; Nillesen, W.M.; McCullough, S.; Kant, S.G.; Marcelis, C.L.M.; Pfundt, R.P.; Leeuw, N. de; Smeets, D.; Sistermans, E.A.; Wit, J.M.; Hamel, B.C.J.; Brunner, H.G.; Kooy, F.; Zuffardi, O.; Vries, L.B.A. de
	2008	Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.	Mefford, H.C.; Sharp, A.J.; Baker, C.; Itsara, A.; Jiang, Z.; Buysse, K.; Huang, S.; Maloney, V.K.; Crolla, J.A.; Baralle, D.; Collins, A.; Mercer, C.; Norga, K.; Ravel, T. de; Devriendt, K.; Bongers, E.M.H.F.; Leeuw, N. de; Reardon, W.; Gimelli, S.; Bena, F.; Hennekam, R.C.M.; Male, A.; Gaunt, L.; Clayton-Smith, J.; Simonic, I.; Park, S.M.; Mehta, S.G.; Nik-Zainal, S.; Woods, C.G.; Firth, H.V.; Parkin, G.; Fichera, M.; Reitano, S.; Giudice, M. Lo; Li, K.E.; Casuga, I.; Broomer, A.; Conrad, B.; Schwerzmann, M.; Raber, L.; Gallati, S.; Striano, P.; Coppola, A.; Tolmie, J.L.; Tobias, E.S.; Lilley, C.; Armengol, L.; Spysschaert, Y.; Verloo, P.; Coene, A. de; Goossens, L.; Mortier, G.; Speleman, F.; Binsbergen, E. van; Nelen, M.R.; Hochstenbach, R.; Poot, M.; Gallagher, L.; Gill, M.; McClellan, J.; King, M.C.; Regan, R.; Skinner, C.; Stevenson, R.E.; Antonarakis, S.E.; Chen, C.; Estivill, X.; Menten, B.; Gimelli, G.; Gribble, S.; Schwartz, S.; Sutcliffe, J.S.; Walsh, T.; Knight, S.J.; Sebat, J.; Romano, C.; Schwartz, C.E.; Veltman, J.A.; Vries, L.B.A. de; Vermeesch, J.R.; Barber, J.C.; Willatt, L.; Tassabehji, M.; Eichler, E.E.
	2008	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Sharp, A.J.; Hurst, J.A.; Firth, H.V.; Knight, S.J.; Goldenberg, A.; Saugier-Veber, P.; Pfundt, R.P.; Vissers, L.E.L.M.; Destree, A.; Grisart, B.; Rooms, L.; Aa, N. van der; Field, M.; Hackett, A.; Bell, K.; Nowaczyk, M.J.; Mancini, G.M.; Poddighe, P.J.; Schwartz, C.E.; Rossi, E.; Gregori, M. de; Antonacci-Fulton, L.L.; McLellan, MD2nd; Garrett, J.M.; Wiechert, M.A.; Miner, T.L.; Crosby, S.; Ciccone, R.; Willatt, L.; Rauch, A.; Zenker, M.; Aradhya, S.; Manning, M.A.; Strom, T.M.; Wagenstaller, J.; Krepischi-Santos, A.C.; Vianna-Morgante, A.M.; Rosenberg, C.; Price, S.M.; Stewart, H.; Shaw-Smith, C.; Brunner, H.G.; Wilkie, A.O.; Veltman, J.A.; Zuffardi, O.; Eichler, E.E.; Vries, L.B.A. de
	2007	Knowledge sharing at conferences	Vries, B. de; Pieters, J.M.
	2007	Preface to the Special Issue How educational researchers and practitioners meet	Pieters, J.M.; Vries, B. de
	2007	(Eds.) How educational researchers and practitioners meet [special issue]	Pieters, J.M.; Vries, B. de
	2007	Further refinement of the candidate region for monosomy 9p syndrome.	Faas, B.H.W.; Leeuw, N. de; Mieloo, H.; Bruinenberg, J.; Vries, B. de
	2007	Homozygosity for a FBN1 missense mutations: clinical and molecular evidence for recessive Marfan syndrome.	Vries, B. de; Pals, G.; Odink, R.J.; Hamel, B.C.J.
	2007	First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine.	Molkot, K.R. van; Stam, A.H.; Raman, A.; Koenderink, J.B.; Vries, L.B.A. de; Boogerd, E.H. van den; Vark, J. van; Heuvel, J.J.M.W. van den; Bajaj, N.; Terwindt, G.M.; Haan, J.; Frants, R.R.; Ferrari, M.; Maagdenberg, A.M.J.M. van den
	2007	Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine	Vries, B. de; Freilinger, T.; Molkot, K.R. van; Koenderink, J.B.; Stam, A.H.; Terwindt, G.M.; Babini, E.; Boogerd, E.H. van den; Heuvel, J.J.M.W. van den; Frants, R.R.; Haan, J.; Pusch, M.; Maagdenberg, A.M.J.M. van den; Ferrari, M.; Dichgans, M.
	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.; Smeets, D.F.C.M.; Vries, B. de
	2007	A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.	Dauwerse, J.G.; Vries, B. de; Wouters, C.H.; Bakker, E.; Rappold, G.A.; Mortier, G.R.; Breuning, M.H.; Peters, D.J.
	2007	Characterization of a recurrent 15q24 microdeletion syndrome.	Sharp, A.J.; Selzer, R.R.; Veltman, J.A.; Gimelli, S.; Gimelli, G.; Striano, P.; Coppola, A.; Regan, R.; Price, S.M.; Knoers, N.V.A.M.; Eis, P.S.; Brunner, H.G.; Hennekam, R.C.M.; Knight, S.J.; Vries, B. de; Zuffardi, O.; Eichler, E.E.
	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.; Proud, V.K.; Vries, B. de; Pfundt, R.; Marcelis, C.L.M.; Zackowski, J.; Bi, W.; Geurts van Kessel, A.H.M.; Lupski, J.R.; Veltman, J.A.
	2007	Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.	Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R.; Vries, B. de; Bokhoven, J.H.L.M. van; Esch, H. van; Frints, S.G.; Froyen, G.; Fryns, J.P.; Raynaud, M.; Moizard, M.P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; Portes, V. des; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A.W.; Tzschach, A.; Jensen, L.R.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.; Hamel, B.C.J.
	2006	Klinefelter syndrome and Prader-Willi syndrome: a rare combination	Verhoeven, W.M.A.; Tuinier, S.; Duffels, S.J.H.; Egger, J.I.M.; Vries, L.B.A. de; Noordam, C.; Ravenswaaij-Arts, C.M.A. van
	2006	Diagnostic genome profiling: unbiased whole genome or targeted analysis?	Veltman, J.A.; Vries, B. de
	2006	Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation.	Molkot, K.R. van; Stroink, H.; Koenderink, J.B.; Kors, E.E.; Heuvel, J.J.M.W. van den; Boogerd, E.H. van den; Stam, A.H.; Haan, J.H.A. de; Vries, B. de; Terwindt, G.M.
	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.; Regan, R.; Kooy, R.F.; Reyniers, E.; Romano, C.; Fichera, M.; Schinzel, A.; Baumer, A.; Anderlid, B.M.; Schoumans, J.; Knoers, N.V.A.M.; Geurts van Kessel, A.H.M.; Sistermans, E.A.; Veltman, J.A.; Brunner, H.G.; Vries, L.B.A. de
	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; Stroink, H.; Sistermans, E.A.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Vries, L.B.A. de

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