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Issue Date	Title	Author(s)
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.; Nillesen, W.M.; Haeringen, A. van; Burgt, I. van der; Burgering, B.; Hertog, J.F. den
2011	A newborn with overlapping features of AEC and EEC syndromes	Celik, T.H.; Buyukcam, A.; Simsek-Kiper, P.O.; Utine, G.E.; Ersoy-Evans, S.; Korkmaz, A.; Yntema, H.G.; Bodugroglu, K.; Yurdakok, M.
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.; Cowan, F.; Schepens, M.; Raas-Rothschild, A.; Gafni-Weinstein, O.; Zollino, M.; Vijzelaar, R.; Neri, G.; Nelen, M.R.; Bokhoven, J.H.L.M. van; Giltay, J.; Kleefstra, T.
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
2011	Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers	Spath, M.A.; Feuth, T.; Allen, E.G.; Smits, A.P.T.; Yntema, H.G.; Geurts van Kessel, A.H.M.; Braat, D.D.M.; Sherman, S.L.; Thomas, C.M.G.
2011	Predictors and risk model development for menopausal age in fragile X premutation carriers	Spath, M.A.; Feuth, A.B.; Smits, A.P.T.; Yntema, H.G.; Braat, D.D.M.; Thomas, C.M.G.; Geurts van Kessel, A.H.M.; Sherman, S.L.; Allen, E.G.
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.; Yntema, H.G.; Hagen, J.M. van; Nieuwint, A.W.; Morrison, N.; Keijzers-Vloet, S.T.M.; Hoischen, A.; Brunner, H.G.; Tolmie, J.; Kleefstra, T.
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.; Nillesen, W.M.; Kuiper, R.P.; Ligtenberg, M.J.L.; Geurts van Kessel, A.H.M.; Krieken, J.H. van; Kiemeney, L.A.L.M.; Hoogerbrugge, N.
2010	Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.	Houweling, A.C.; Mooij, Y.M. de; Burgt, C.J.A.M. van der; Yntema, H.G.; Lachmeijer, A.M.; Go, A.T.
2010	A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.	Demir, K.; Yntema, H.G.; Altincik, A.; Bober, E.
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; Noordam, C.; Ruiterkamp-Versteeg, M.; Yntema, H.G.; Nillesen, W.M.; Ligtenberg, M.J.L.; Geurts van Kessel, A.H.M.; Kuiper, R.P.; Hoogerbrugge, N.
2010	Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.	Wallon, D.; Guyant-Marechal, L.; Laquerriere, A.; Wevers, R.A.; Martinaud, O.; Kluijtmans, L.A.J.; Yntema, H.G.; Saugier-Veber, P.; Hannequin, D.
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.; Geurts van Kessel, A.H.M.; Yntema, H.G.
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.; Lepri, F.; Caputo, V.; Silvano, M.; Buscherini, F.; Consoli, F.; Ferrara, G.; Digilio, M.C.; Cavaliere, M.L.; Hagen, J.M. van; Zampino, G.; Burgt, C.J.A.M. van der; Ferrero, G.B.; Mazzanti, L.; Screpanti, I.; Yntema, H.G.; Nillesen, W.M.; Savarirayan, R.; Zenker, M.; Dallapiccola, B.; Gelb, B.D.; Tartaglia, M.
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.; Foulds, N.; Dooren, M. van; Willemsen, M.H.; Pfundt, R.P.; Turner, A.; Wilson, M.; McGaughran, J.; Rauch, A.; Zenker, M.; Adam, M.P.; Innes, M.; Davies, C.; Lopez, A.G.; Casalone, R.; Weber, A.; Brueton, L.; Navarro, A.D.; Bralo, M.P.; Venselaar, H.; Stegmann, S.P.; Yntema, H.G.; Bokhoven, J.H.L.M. van; Brunner, H.G.
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.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J.; Goizet, C.; Lacombe, D.; Pedespan, J.M.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M.D.; Green, A.; Kogelenberg, M. van; Esch, H. van; Gecz, J.; Hamel, B.C.J.; Bokhoven, H. van; Brouwer, A.P.M. de
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	Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.	Lugtenberg, D.; Brouwer, A.P.M. de; Kleefstra, T.; Oudakker, A.R.; Frints, S.G.; Schrander-Stumpel, C.T.R.M.; Fryns, J.P.; Jensen, L.R.; Chelly, J.; Moraine, C.; Turner, G.; Veltman, J.A.; Hamel, B.C.J.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van; Yntema, H.G.
2006	ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation	Lugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Reeuwijk, J. van; Nabuurs, S.B.; Vries, L.B.A. de; Hamel, B.C.J.; Brouwer, A.P.M. de; Bokhoven, J.H.L.M. van
2005	Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types.	Dummler, B.A.; Hauge, C.; Silber, J.; Yntema, H.G.; Kruse, L.S.; Kofoed, B.; Hemmings, B.A.; Alessi, D.R.; Frodin, M.
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; Brouwer, A.P.M. de; Nillesen, W.M.; Sistermans, E.A.; Hamel, B.C.J.; Bruijn, D.R.H. de; Fryns, J.P.; Yntema, H.G.; Brunner, H.G.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van
2004	High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.	Veltman, J.A.; Yntema, H.G.; Lugtenberg, D.; Arts, H.H.; Briault, S.; Huys, E.; Osoegawa, K.; Jong, P. de; Brunner, H.G.; Geurts van Kessel, A.H.M.; Bokhoven, J.H.L.M. van; Schoenmakers, E.F.P.M.
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.; Chelly, J.; Moraine, C.; Ropers, H.H.; Fryns, J.P.; Janssen, I.M.; Sistermans, E.A.; Nillesen, W.M.; Vries, L.B.A. de; Hamel, B.C.J.; Bokhoven, J.H.L.M. van
2004	Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.	Wijk, E. van; Pennings, R.J.E.; Brinke, H. te; Claassen, A.M.W.; Yntema, H.G.; Hoefsloot, L.H.; Cremers, F.P.M.; Cremers, C.W.R.J.; Kremer, J.M.J.
2004	Mutations in the human TBX4 gene cause small patella syndrome.	Bongers, M.H.F.; Duijf, P.H.; Beersum, S.E.C. van; Schoots, J.; Kampen, A. van; Burckhardt, A.; Hamel, B.C.J.; Losan, F.; Hoefsloot, L.H.; Yntema, H.G.; Knoers, N.V.A.M.; Bokhoven, J.H.L.M. van
2004	High prevalence of SLC6A8 deficiency in X-linked mental retardation.	Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Grauw, R.S. de; Yntema, H.G.; Bahi, N.; Moraine, C.; Ropers, H.H.; Fryns, J.P.; Grauw, T.J. de; Jakobs, C.; Salomons, G.S.
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.; Geerdink, N.; Bokhoven, J.H.L.M. van; Vries, L.B.A. de; Sistermans, E.A.; Hamel, B.C.J.
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.; Sistermans, E.A.; Hulsmans, C.F.C.H.; Nillesen, W.M.; Bokhoven, J.H.L.M. van; Vries, L.B.A. de; Hamel, B.C.J.
2001	Molecular genetics of nonspecific X-linked mental retardation	IJntema, Helena Geertje
1995	Neuropeptide-Y Inhibits Ca2+ Oscillations, Cyclic-Amp, and Secretion in Melanotrope Cells of Xenopus-Laevis Via a Y-1 Receptor	Scheenen, W.J.J.M.; Yntema, H.G.; Willems, P.H.G.M.; Roubos, E.W.; Lieste, J.R.; Jenks, B.G.
1995	Neuropeptide Y inhibits Ca2+ oscillations, cyclic AMP, and secretion in melanotrope cells of Xenopus laevis via a Y1 receptor	Scheenen, W.J.J.M.; Yntema, H.G.; Willems, P.H.G.M.; Roubos, E.W.; Lieste, J.R.; Jenks, B.G.