|
|
DSpace at RU >
Search Results
Results 1-50 of 60.
Item hits:
| Full Text | Issue Date | Title | Author(s) |  | 2012 | Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms | Isrie, M.; Hendriks, Y.; Gielissen, N.; Sistermans, E.A.; Willemsen, M.H.; Peeters, H.; Vermeesch, J.R.; Kleefstra, T.; Van Esch, H. |
| | 2012 | Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion | Voermans, N.C.; Kleefstra, T.; Gabreels-Festen, A.A.; Faas, B.H.; Kamsteeg, E.J.; Houlden, H.; Laura, M.; Polke, J.M.; Pandraud, A.; van Ruissen, F.; van Engelen, B.G.; Reilly, M.M. |
| | 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 |
| | 2012 | Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? | Verhoeven, W.M.A.; Egger, J.I.M.; Willemsen, M.H.; Leijer, G.J.M. de; Kleefstra, T. |
| | 2012 | Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? | Verhoeven, W.M.; Egger, J.I.; Willemsen, M.H.; de Leijer, G.J.; Kleefstra, T. |
| | 2012 | Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics | De Filippis, R.; Pancrazi, L.; Bjorgo, K.; Rosseto, A.; Kleefstra, T.; Grillo, E.; Panighini, A.; Cardarelli, F.; Meloni, I.; Ariani, F.; Mencarelli, M.A.; Hayek, J.; Renieri, A.; Costa, M.; Mari, F. |
| | 2012 | Adult Phenotypes in Angelman- and Rett-Like Syndromes. | Willemsen, M.H.; Rensen, J.H.; Schrojenstein Lantman-de Valk, H.M. van; Hamel, B.C.J.; Kleefstra, T. |
| | 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 | Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies | Kim, H.G.; Kim, H.T.; Leach, N.T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I.S.; Shen, Y.; Talkowski, M.E.; Ruderfer, D.; Lee, J.H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A.V.; Romeike, B.F.; Kleefstra, T.; Bartsch, O.; Elsea, S.H.; Jabs, E.W.; MacDonald, M.E.; Harris, D.J.; Quade, B.J.; Ropers, H.H.; Shaffer, L.G.; Kutsche, K.; Layman, L.C.; Tommerup, N.; Kalscheuer, V.M.; Shi, Y.; Morton, C.C.; Kim, C.H.; Gusella, J.F. |
| | 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; Philip, N.; Berry-Kravis, E.M.; Kini, U.; van Ravenswaaij-Arts, C.M.; Delle Chiaie, B.; Innes, A.M.; Houge, G.; Kosonen, T.; Cremer, K.; Fannemel, M.; Stray-Pedersen, A.; Reardon, W.; Ignatius, J.; Lachlan, K.; Mircher, C.; Helderman van den Enden, P.T.; Mastebroek, M.; Cohn-Hokke, P.E.; Yntema, H.G.; Drunat, S.; Kleefstra, T. |
| | 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.; Peart-Vissers, L.E.L.M.; Wissink-Lindhout, W.M.; Fenckova, M.; Akker, W.M.R. van den; Nadif Kasri, N.; Nillesen, W.M.; Prescott, T.; Clark, R.D.; Devriendt, K.; Reeuwijk, J. van; Brouwer, A.P. de; Gilissen, C.F.; Zhou, H.; Brunner, H.G.; Veltman, J.A.; Schenck, A.; Bokhoven, H. van |
| | 2012 | Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects | Willemsen, M.H.; Peart-Vissers, L.E.L.M.; Willemsen, M.A.A.P.; van Bon, B.W.; Kroes, T.; de Ligt, J.; de Vries, B.B.; Schoots, J.; Lugtenberg, D.; Hamel, B.C.; Bokhoven, J.H.L.M. van; Brunner, H.G.; Veltman, J.A.; Kleefstra, T. |
| | 2012 | De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome | Riviere, J.B.; Bon, B.W. van; Hoischen, A.; Kholmanskikh, S.S.; O'Roak, B.J.; Gilissen, C.; Gijsen, S.; Sullivan, C.T.; Christian, S.L.; Abdul-Rahman, O.A.; Atkin, J.F.; Chassaing, N.; Drouin-Garraud, V.; Fry, A.E.; Fryns, J.P.; Gripp, K.W.; Kempers, M.; Kleefstra, T.; Mancini, G.M.; Nowaczyk, M.J.; Ravenswaaij-Arts, C.M. van; Roscioli, T.; Marble, M.; Rosenfeld, J.A.; Siu, V.M.; Vries, B.B. de; Shendure, J.; Verloes, A.; Veltman, J.A.; Brunner, H.G.; Ross, M.E.; Pilz, D.T.; Dobyns, W.B. |
| | 2012 | Diagnostic exome sequencing in persons with severe intellectual disability | de Ligt, J.; Willemsen, M.H.; van Bon, B.W.; Kleefstra, T.; Yntema, H.G.; Kroes, T.; Vulto-van Silfhout, A.T.; Koolen, D.A.; de Vries, P.; Gilissen, C.; del Rosario, M.; Hoischen, A.; Scheffer, H.; de Vries, B.B.; Brunner, H.G.; Veltman, J.A.; Peart-Vissers, L.E.L.M. |
| | 2011 | Kleefstra Syndrome in Three Adult Patients: Further Delineation of the Behavioral and Neurological Phenotype Shows Aspects of a Neurodegenerative Course | Verhoeven, W.M.A.; Egger, J.I.M.; Vermeulen, K.; Warrenburg, B.P.C. van de; Kleefstra, T. |
 | 2011 | Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions | Willemsen, M.H.; Leeuw, N. de; Mercer, C.; Eisenhauer, H.; Morris, J.; Collinson, M.N.; Barber, J.C.; Lam, S.T.; Lo, I.F.; Rensen, H.; Ferwerda, A.; Hamel, B.C.J.; Kleefstra, T. |
| | 2011 | Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course | Verhoeven, W.M.A.; Egger, J.I.; Vermeulen, K.; Warrenburg, B.P.C. van de; Kleefstra, T. |
| | 2011 | Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients | Ouweland, A.M. van den; Elfferich, P.; Zonnenberg, B.A.; Arts, W.F.M.; Kleefstra, T.; Nellist, M.D.; Millan, J.M.; Withagen-Hermans, C.; Maat-Kievit, A.J.; Halley, D.J. |
| | 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 | 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 | Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database | Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.; Wolf, P.; Dunnen, J.T. den; Jakobs, C.; Salomons, G.S. |
| | 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.; Kos, A.; Wissink-Lindhout, W.M.; Brouwer, A.P.M. de; Nillesen, W.M.; Pfundt, R.; Holder-Espinasse, M.; Vallee, L.; Andrieux, J.; Coppens-Hofman, M.C.; Rensen, H.; Hamel, B.C.J.; Bokhoven, H. van; Aschrafi, A.; Kleefstra, T. |
| | 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 | 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.; Noordam, C.; Heuvel, L.P.W.J. van den; Nillesen, W.M.; Hollody, K.; Gillessen-Kaesbach, G.; Lammens, M.M.Y.; Smeitink, J.A.M.; Burgt, C.J.A.M. van der; Morava, E. |
| | 2010 | Behavioral Phenotype in the 9q Subtelomeric Deletion Syndrome | Verhoeven, W.M.A.; Kleefstra, T.; Egger, J.I.M. |
| | 2010 | Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients. | Verhoeven, W.M.A.; Kleefstra, T.; Egger, J.I. |
| | 2010 | Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. | Willemsen, M.H.; Fernandez, B.A.; Bacino, C.A.; Gerkes, E.; Brouwer, A.P.M. de; Pfundt, R.; Sikkema-Raddatz, B.; Scherer, S.W.; Marshall, C.R.; Potocki, L.; Bokhoven, J.H.L.M. van; Kleefstra, T. |
| | 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 | 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.; Mieloo, H.; Willemsen, M.A.A.P.; Perrotta, C.S.; Poddighe, P.J.; Feenstra, I.; Draaisma, J.M.T.; Ravenswaaij-Arts, C.M.A. van |
| | 2010 | Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. | Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Doring, A.; Hu, Y.; Kang, H.; Tzschach, A.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; Ravenswaaij-Arts, C.M.A. van; Kleefstra, T.; Kalscheuer, V.M.M.; Ropers, H.H. |
| | 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 |
| | 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. |
 | 2010 | Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. | Shoubridge, C.; Tan, M.H.; Fullston, T.; Cloosterman, D.; Coman, D.; McGillivray, G.; Mancini, G.M.; Kleefstra, T.; Gecz, J. |
| | 2009 | Emerging microdeletion and microduplication syndromes; the counseling paradigm. | Ravenswaaij-Arts, C.M.A. van; Kleefstra, T. |
| | 2009 | 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. | Mencarelli, M.A.; Kleefstra, T.; Katzaki, E.; Papa, F.T.; Cohen, M.; Pfundt, R.P.; Ariani, F.; Meloni, I.; Mari, F.; Renieri, A. |
| | 2009 | Neurologic aspects of MECP2 gene duplication in male patients. | Echenne, B.; Roubertie, A.; Lugtenberg, D.; Kleefstra, T.; Hamel, B.C.J.; Bokhoven, H. van; Lacombe, D.; Philippe, C.; Jonveaux, P.; Brouwer, A.P.M. de |
| | 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 |
| | 2009 | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. | Coene, K.L.M.; Roepman, R.; Doherty, D.; Afroze, B.; Kroes, H.Y.; Letteboer, S.J.F.; Ngu, L.H.; Budny, B.; Wijk, H.A.R.; Gorden, N.T.; Azhimi, M.; Thauvin-Robinet, C.; Veltman, J.A.; Boink, M.; Kleefstra, T.; Cremers, F.P.M.; Bokhoven, H. van; Brouwer, A.P.M. 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 |
| | 2007 | Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. | Rosenberg, E.H.; Martinez Munoz, C.; Betsalel, O.T.; Dooren, S. van; Fernandez, M.; Jakobs, C.; Grauw, T.J. de; Kleefstra, T.; Schwartz, C.E.; Salomons, G.S. |
| | 2007 | Pure subtelomeric microduplications as a cause of mental retardation. | Ruiter, E.M.; Koolen, D.A.; Kleefstra, T.; Nillesen, W.M.; Pfundt, R.; Leeuw, N. de; Hamel, B.C.J.; Brunner, H.G.; Sistermans, E.A.; Vries, B.B. van |
| | 2007 | The chromosome 9q subtelomere deletion syndrome | Stewart, D.R.; Kleefstra, T. |
| | 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 | 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 | 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.; Veltman, J.A.; Sistermans, E.A.; Bokhoven, J.H.L.M. van; Ravenswaaij-Arts, C.M.A. van; Vries, L.B.A. de |
| | 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 | 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 | Genotypes and Phenotypes in X-linked Mental Retardation: from families to genes and back. | Kleefstra, T. |
1
2
next
|
