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Issue Date	Title	Author(s)
2010	Syndrome of hajdu-cheney: three case reports of orofacial interest.	Vingerhoedt, E.; Bailleul-Forestier, I.; Fellus, P.; Schoenaers, J.; Fryns, J.P.; Carels, C.E.L.
2010	More on clinical renal genetics.	Grunfeld, J.P.; Hwu, W.; Chien, Y.; Lee, N.; Chiang, S.; Dobrovolny, R.; Huang, A.; Yeh, H.; Chao, M.; Lin, S.; Kitagawa, T.; Desnick, R.; Hsu, L.; Keimpema, L. van; Nevens, F.; Slembrouck, R. van; Oijen, G. Van; Hoffmann, A.; Dekker, H.; Man, R. De; Drenth, J.P.H.; Alamovitch, S.; Plaisier, E.; Favrole, P.; Prost, C.; Chen, Z.; Agrmael, T. Van; Marro, B.; Ronco, P.; Zivna, M.; Hulkova, H.; Matignon, M.; Hodanova, K.; Vylet'al, P.; Kalbacova, M.; Baresova, V.; Sikora, J.; Blazkova, H.; Zivny, J.; Ivanek, R.; Stranecky, V.; Sovova, J.; Claes, K.; Lerut, E.; Fryns, J.P.; Hart, P.t; Hart, T.; Adams, J.; Pawtowski, A.; Clemessy, M.; Gasc, J.; Gubler, M.; Antignac, C.; Elleder, M.; Kapp, K.; Grimbert, P.; Bleyer, A.; Kmoch, S.; Brown, E.; Schlondorff, J.; Becker, D.j.; Tsukaguchi, H.; Uschinski, A.; Higgs, H.; Henderson, J.; Pollak, M.
2010	A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.	Jensen, L.R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.R.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.P.; Chelly, J.; Brouwer, A.P.M. de; Hamel, B.C.J.; Gecz, J.; Ropers, H.H.; Kuss, A.W.
2010	Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.	Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.S.; Esch, H. van; Kleefstra, T.; Briault, S.; Fryns, J.P.; Hamel, B.C.J.; Chelly, J.; Ropers, H.H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M.
2009	Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.	Walle, J. van de; Esch, H. van; Govaerts, K.; Verbeeck, J.; Zweier, C.; Madrigal, I.; Mila, M.; Pijkels, E.; Fernandez, I.; Kohlhase, J.; Spaich, C.; Rauch, A.; Fryns, J.P.; Marynen, P.; Froyen, G.
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	Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.	Froyen, G.; Corbett, M.; Walle, J. van de; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Esch, H. van; Chelly, J.; Sanlaville, D.; Bokhoven, H. van; Ropers, H.H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.E.; Abidi, F.; Tarpey, P.S.; Futreal, P.A.; Whibley, A.; Raymond, F.L.; Stratton, M.R.; Fryns, J.P.; Scott, R.; Peippo, M.; Sipponen, M.; Partington, M.; Mowat, D.; Field, M.; Hackett, A.; Marynen, P.; Turner, G.; Gecz, J.
2008	Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).	Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P.; Schuetz, C.; Gimelli, G.; Davies, E.G.; Gennery, A.; Belohradsky, B.H.; Groot, R. de; Gerritsen, E.J.; Mattina, T.; Howard, P.J.; Fasth, A.; Reisli, I.; Furthner, D.; Slatter, M.A.; Cant, A.J.; Cazzola, G.; Dijken, P.J. van; Deuren, M. van; Greef, J.C. de; Maarel, S.M. van der; Weemaes, C.M.R.
2008	MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.	Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van; Portes, V. des; Moog, U.; Macville, M.V.; Roozendaal, K. van; Schrander-Stumpel, C.T.; Tzschach, A.; Marynen, P.; Fryns, J.P.; Hamel, B.C.J.; Bokhoven, H. van; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H.H.; Froyen, G.; Kuss, A.W.
2007	Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.	Froyen, G.; Bauters, M.; Boyle, J.; Esch, H. van; Govaerts, K.; Bokhoven, J.H.L.M. van; Ropers, H.H.; Moraine, C.; Chelly, J.; Fryns, J.P.; Marynen, P.; Gecz, J.; Turner, G.
2007	Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.	Chen, W.; Jensen, L.R.; Gecz, J.; Fryns, J.P.; Moraine, C.; Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.H.; Kuss, A.W.
2007	X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.	Jensen, L.R.; Lenzner, S.; Moser, B.; Freude, K.; Tzschach, A.; Wei, C.; Fryns, J.P.; Chelly, J.; Turner, G.; Moraine, C.; Hamel, B.C.J.; Ropers, H.H.; Kuss, A.W.
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	Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.	Poirier, K.; Lacombe, D.; Gilbert-Dussardier, B.; Raynaud, M.; Desportes, V.; Brouwer, A.P.M. de; Moraine, C.; Fryns, J.P.; Ropers, H.H.; Beldjord, C.; Chelly, J.; Bienvenu, T.
2006	Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.	Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.H.; Kuss, A.; Jensen, L.R.
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	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.; Magee, A.; Genevieve, D.; Cormier-Daire, V.; Esch, H. van; Fryns, J.P.; Hamel, B.C.J.; Sistermans, E.A.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van
2006	Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.	Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Zutven, L. Van; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.P.; Chelly, J.; Bokhoven, J.H.L.M. van; Gecz, J.; Dollfus, H.; Ropers, H.H.; Schwartz, C.E.; Santos, R.; Kalscheuer, V.M.M.; Hanauer, A.
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	Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.	Poirier, K.; Francis, F.; Hamel, B.C.J.; Moraine, C.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Bienvenu, T.
2005	The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.	Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Maas, N.; Thoelen, R.; Vogels, A.; Smeets, D.F.C.M.; Salden, I.; Matthijs, G.; Fryns, J.P.; Vermeesch, J.
2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.	Jensen, L.R.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.R.; Tariverdian, G.; Chelly, J.; Fryns, J.P.; Esch, H. van; Kleefstra, T.; Hamel, B.C.J.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.M.M.; Ropers, H.H.; Lenzner, S.
2005	Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.	Laumonnier, F.; Holbert, S.; Ronce, N.; Faravelli, F.; Lenzner, S.; Schwartz, C.; Lespinasse, J.; Esch, H. van; Lacombe, D.; Goizet, C.; Phan-Dinh Tuy, F.; Bokhoven, J.H.L.M. van; Fryns, J.P.; Chelly, J.; Ropers, H.H.; Moraine, C.; Hamel, B.C.J.; Briault, S.
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	Parenting, family contexts, and personality characteristics in youngsters with VCFS	Prinzie, P.; Swillen, A.; Maes, B.; Onghena, P.; Vogels, A.; Hooste, A. van; Devriendt, K.; Lieshout, C.F.M. van; Fryns, J.P.
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	Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.	Stinckens, C.I.C.; Kremer, J.M.J.; Wijk, E. van; Hoefsloot, L.H.; Huygen, P.L.M.; Standaert, L.; Fryns, J.P.; Cremers, C.W.R.J.
2004	X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.	Laumonnier, F.; Bonnet-Brilhault, F.; Gomot, M.; Blanc, R.; David, A.; Moizard, M.P.; Raynaud, M.; Ronce, N.; Lemonnier, E.; Calvas, P.; Laudier, B.; Chelly, J.; Fryns, J.P.; Ropers, H.H.; Hamel, B.C.J.; Andres, C.; Barthelemy, C.; Moraine, C.; Briault, S.
2004	Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.	Freude, K.; Hoffmann, K.; Jensen, L.R.; Delatycki, M.B.; Portes, V. des; Moser, B.; Hamel, B.C.J.; Bokhoven, J.H.L.M. van; Moraine, C.; Fryns, J.P.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.
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.
2003	Personality profiles of children and adolescents with neurofibromatosis type 1	Prinzie, P.; Descheemaeker, M.J.; Vogels, A.; Cleymans, T.; Haselager, G.J.T.; Curfs, L.M.G; Hellinckx, W.; Onghena, P.; Legius, E.; Lieshout, C.F.M. van; Fryns, J.P.
2002	Personality profiles of youngsters with Velo-Cardio-Facial Syndrome	Prinzie, P.; Swillen, A.; Vogels, A.; Kockuyt, V.; Curfs, L.M.G; Haselager, G.J.T.; Hellinckx, W.; Devriendt, K.; Onghena, P.; Lieshout, C.F.M. van; Fryns, J.P.
1997	Niet-syndromaal gehoorverlies. Van enkele fenotypen naar vele genotypen.	Stinckens, C.I.C.; Ensink, R.J.H.; Feenstra, L.; Fryns, J.P.; Cremers, C.W.R.J.
1997	Non-syndromic dominant sensorineural hearing loss. From a few phenotypes to many genotypes.	Stinckens, C.I.C.; Ensink, R.J.H.; Feenstra, L.; Fryns, J.P.; Cremers, C.W.R.J.
1996	Fountain syndrome: further delineation of the clinical syndrome and follow-up data	Buggenhout, G.J.C.M. van; Renier, W.O.; Wiel, M.P. van de; Trommelen, J.C.M.; Pijkels, E.; Hamel, B.C.J.; Fryns, J.P.
1996	Fountain syndrome: further delineation of the clinical syndrome and follow-up data	Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Renier, W.O.; Wiel, M.P. van de; Trommelen, J.C.M.; Pijkels, E.; Hamel, B.C.J.; Fryns, J.P.
1996	Mental status of females with a FMR1 gene full mutation	Vries, B.B. de; Wiegers, A.M.; Smits, A.P.T.; Mohkamsing, S.; Duivenvoorden, H.J.; Fryns, J.P.; Curfs, L.M.G; Halley, D.J.; Oostra, B.A.; Ouweland, A.M.W. van den; Niermeijer, M.F.
1995	Personality Profiles of Youngsters with Prader-Willi-Syndrome and Youngsters Attending Regular Schools	Curfs, L.M.G.; Hoondert, V.; Lieshout, C.F.M. van; Fryns, J.P.