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Browsing by Author Nillesen, W.M.

Full Text	Issue Date	Title	Author(s)
	2012	Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability	Kleefstra, T.; Kramer, J.M.; Neveling, K.; Willemsen, M.H.; Koemans, T.S., et al
	2012	Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.	Koolen, D.A.; Dupont, J.; Leeuw, N. de; Vissers, L.E.L.M.; Heuvel, S.P. van den, et al
	2012	A cytogenetic study in a large population of intellectually disabled Indonesians.	Mundhofir, F.E.P.; Winarni, T.I.; Bon, B.W.M. van; Aminah, S.; Nillesen, W.M., et al
	2012	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Kramer, J.M.; Neveling, K.; Nillesen, W.M.; Moore-Barton, H.L., et al
	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., et al
	2012	Update on Kleefstra Syndrome	Willemsen, M.H.; Vulto-van Silfhout, A.T.; Nillesen, W.M.; Wissink-Lindhout, W.M.; Bokhoven, J.H.L.M. van, et al
	2011	Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation	Jongmans, M.C.J.; Burgt, I. van der; Hoogerbrugge, P.M.; Noordam, K.; Yntema, H.G., et al
	2011	Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions	Willemsen, M.H.; Beunders, G.; Callaghan, M.; Leeuw, N. de; Nillesen, W.M., 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	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
	2011	Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway	Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K., et al
	2011	Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects	Runtuwene, V.; Eekelen, M. van; Overvoorde, J.; Rehmann, H.; Yntema, H.G., et al
	2011	Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome	Nillesen, W.M.; Yntema, H.G.; Moscarda, M.; Verbeek, N.E.; Wilson, L.C., et al
	2010	Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.	Martinelli, S.; Luca, A. De; Stellacci, E.; Rossi, C.; Checquolo, S., 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	Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.	Kleefstra, T.; Leeuw, N. de; Wolf, R.; Nillesen, W.M.; Schobers, G., et al
	2010	Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.	Jongmans, M.C.J.; Hoogerbrugge, P.M.; Hilkens, L.; Flucke, U.E.; Burgt, C.J.A.M. van der, et al
	2010	X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.	Spath, M.A.; Nillesen, W.M.; Smits, A.P.T.; Feuth, A.B.; Braat, D.D.M., et al
	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., et al
	2009	Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.	Brugman, F.; Scheffer, H.; Schelhaas, H.J.; Nillesen, W.M.; Wokke, J.H.J., et al
	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., et al
	2009	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.	Lugtenberg, D.; Kleefstra, T.; Oudakker, A.R.; Nillesen, W.M.; Yntema, H.G., et al
	2009	Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.	Kleefstra, T.; Zelst-Stams, W.A. van; Nillesen, W.M.; Cormier-Daire, V.; Houge, G., et al
	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., et al
	2008	Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.	Brugman, F.; Scheffer, H.; Wokke, J.H.; Nillesen, W.M.; Visser, M. de, et al
	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	Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.	Kleefstra, T.; Koolen, D.A.; Nillesen, W.M.; Leeuw, N. de; Hamel, B.C.J., et al
	2006	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.	Kleefstra, T.; Brunner, H.G.; Amiel, J.; Oudakker, A.R.; Nillesen, W.M., et al
	2005	Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.	Jongmans, M.; Sistermans, E.A.; Rikken, A.; Nillesen, W.M.; Tamminga, R., et al
	2005	Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.	Kleefstra, T.; Smidt, M.; Banning, M.J.G.; Oudakker, A.R.; Esch, H. van, et al
	2005	Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.	Koolen, D.A.; Knoers, N.V.A.M.; Nillesen, W.M.; Slabbers, G.H.; Smeets, D.F.C.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
	2004	Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.	Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Banning, M.J.G.; Kalscheuer, V.M.M., et al
	2004	A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.	Koolen, D.A.; Vissers, L.E.L.M.; Nillesen, W.M.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van, et al
	2004	Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).	Koolen, D.A.; Nillesen, W.M.; Versteeg, M.H.; Merkx, G.F.M.; Knoers, N.V.A.M., et al
	2004	MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.	Kleefstra, T.; Yntema, H.G.; Nillesen, W.M.; Oudakker, A.R.; Mullaart, R.A., et al
	2004	Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).	Kleefstra, T.; Franken, C.E.; Arens, Y.H.; Ramakers, G.J.; Yntema, H.G., et al