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| Full Text | Issue Date | Title | Author(s) |  | 2011 | Anosmiapredicts hypogonadotropic hypogonadism in CHARGE syndrome. | Bergman, J.E.; Bocca, G.; Hoefsloot, L.H.; Meiners, L.C.; Ravenswaaij-Arts, C.M.A. van |
| | 2011 | Clinical utility gene card for: CHARGE syndrome. | Blake, K.; Ravenswaaij-Arts, C.M.A. van; Hoefsloot, L.H.; Verloes, A. |
| | 2011 | CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. | Bergman, J.E.; Janssen, N.; Hoefsloot, L.H.; Jongmans, M.C.; Hofstra, R.M.; Ravenswaaij-Arts, C.M.A. van |
 | 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.; Kunst, H.P.; Admiraal, R.J.; Veltman, J.A.; Ravenswaaij-Arts, C.M.A. van; Brunner, H.G.; Cremers, C.W.R.J. |
| | 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 | 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 | The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. | Gerkes, E.H.; Kevie-Kersemaekers, A.M. van der; Yakin, M.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van |
 | 2010 | Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. | Auer-Grumbach, M.; Olschewski, A.; Papic, L.; Kremer, J.M.J.; McEntagart, M.E.; Uhrig, S.; Fischer, C.; Frohlich, E.; Balint, Z.; Tang, B.; Strohmaier, H.; Lochmuller, H.; Schlotter-Weigel, B.; Senderek, J.; Krebs, A.; Dick, K.J.; Petty, R.; Longman, C.; Anderson, N.E.; Padberg, G.W.A.M.; Schelhaas, H.J.; Ravenswaaij-Arts, C.M.A. van; Pieber, T.R.; Crosby, A.H.; Guelly, C. |
| | 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 | 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 | A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. | Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L.; Schoots, J.; Rooij, A. van; Huijben, K.; Ravenswaaij-Arts, C.M.A. van; Jongmans, M.C.J.; Sykut-Cegielska, J.; Hoffmann, G.F.; Bluemel, P.; Adamowicz, M.; Reeuwijk, J. van; Ng, B.G.; Bergman, J.E.; Bokhoven, J.H.L.M. van; Korner, C.; Babovic-Vuksanovic, D.; Willemsen, M.A.A.P.; Gleeson, J.G.; Lehle, L.; Brouwer, A.P.M. de; Lefeber, D.J. |
| | 2009 | Emerging microdeletion and microduplication syndromes; the counseling paradigm. | Ravenswaaij-Arts, C.M.A. van; Kleefstra, T. |
| | 2009 | CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. | Jongmans, M.C.J.; Ravenswaaij-Arts, C.M.A. van; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H.L.; Donk, K. van der; Seminara, S.; Bergman, J.E.; Brunner, H.G.; Crowley, W.F.; Hoefsloot, L.H. |
| | 2009 | An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. | Verheij, J.B.; Munnik, S.A. de; Dijkhuizen, T.; Leeuw, N. de; Olde Weghuis, D.E.M.; Hoek, G.J. van den; Rijlaarsdam, R.S.; Thomasse, Y.E.; Dikkers, F.G.; Marcelis, C.L.M.; Ravenswaaij-Arts, C.M.A. van |
| | 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 | Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. | Kalscheuer, V.M.M.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Smeets, D.F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; Ropers, H.H. |
| | 2008 | Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities. | Faas, B.H.W.; Nillesen, W.; Vermeer, S.; Weghuis, D.O.; Leeuw, N. de; Smits, A.P.T.; Ravenswaaij-Arts, C.M.A. van |
| | 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 | Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. | Bergman, J.E.; Wijs, I de; Jongmans, M.C.J.; Admiraal, R.J.; Hoefsloot, L.H.; Ravenswaaij-Arts, C.M.A. van |
| | 2007 | Guidelines for molecular karyotyping in constitutional genetic diagnosis. | Vermeesch, J.R.; Fiegler, H.; Leeuw, N. de; Szuhai, K.; Schoumans, J.; Ciccone, R.; Speleman, F.; Rauch, A.; Clayton-Smith, J.; Ravenswaaij-Arts, C.M.A. van; Sanlaville, D.; Patsalis, P.C.; Firth, H.; Devriendt, K.; Zuffardi, O. |
| | 2007 | Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene. | Bonne, A.; Basten-Vreede, L.A.J.; Kuiper, R.P.; Bodmer, D.; Jansen, C.; Eleveld, M.J.; Erp, F. van; Arkesteijn, G.; Hoogerbrugge, N.; Ravenswaaij-Arts, C.M.A. van; Schoenmakers, E.F.P.M.; Geurts van Kessel, A.H.M. |
| | 2007 | Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects. | Kooper, A.J.A.; Bruijn, D. de; Ravenswaaij-Arts, C.M.A. van; Faas, B.H.W.; Creemers, J.W.T.; Thomas, C.M.G.; Smits, A.P.T. |
| | 2007 | Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. | Feenstra, I.; Vissers, L.E.L.M.; Orsel, M.; Geurts van Kessel, A.H.M.; Brunner, H.G.; Veltman, J.A.; Ravenswaaij-Arts, C.M.A. van |
| | 2006 | CHARGE syndrome : Relations between behavioral characteristics and medical conditions | Vervloed, M.P.J.; Hoevenaars-van den Boom, M.A.A.; Knoors, H.E.T.; Ravenswaaij-Arts, C.M.A. van; Admiraal, R.J.C. |
| | 2006 | Neuropsychiatry and the 18q- syndrome | Verhoeven, W.M.A.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Beurden, J.J.T.M. van; Egger, J.I.M.; Tuinier, S. |
| | 2006 | Neuropsychiatry and deletions of 18q : case report and diagnostic considerations | Verhoeven, W.M.A.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Egger, J.I.M.; Beurden, J.J.T.M. van; Tuinier, S. |
| | 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 | Disturbed serine metabolism and psychosis in a patient with a de novo translocation | Verhoeven, W.M.A.; Ravenswaaij-Arts, C.M.A. van; Leeuw, N. de; Fekkes, D.; Heijden, F.M.M.A. van der; Egger, J.I.M.; Tuinier, S. |
| | 2006 | Neuropsychiatry and deletions of 18q; case report and diagnostic considerations. | Verhoeven, W.M.A.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Egger, J.I.M.; Beurden, J.J. van; Tuinier, S. |
| | 2006 | Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage. | Feenstra, I.; Brunner, H.G.; Ravenswaaij-Arts, C.M.A. van |
| | 2006 | Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. | Feenstra, I.; Koolen, D.A.; Pas, J. van der; Hamel, B.C.J.; Mieloo, H.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van |
| | 2006 | Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8. | Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Knaap, M.S. van der; Willemsen, M.A.A.P. |
| | 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 | CHARGE syndrome: relations between behavioral characteristics and medical conditions. | Vervloed, M.P.J.; Boom, M.A.A. van den; Knoors, H.E.T.; Ravenswaaij-Arts, C.M.A. van; Admiraal, R.J.C. |
| | 2006 | European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. | Feenstra, I.; Fang, J.; Koolen, D.A.; Siezen, A.; Evans, C.; Winter, R.M.; Lees, M.; Riegel, M.; Vries, L.B.A. de; Ravenswaaij-Arts, C.M.A. van; Schinzel, A. |
| | 2006 | CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. | Jongmans, M.C.J.; Admiraal, R.J.C.; Donk, K.P. van der; Vissers, L.E.L.M.; Baas, A.; Kapusta, L.; Hagen, J.M. van; Donnai, D.; Ravel, T.J. de; Veltman, J.A.; Geurts van Kessel, A.H.M.; Vries, L.B.A. de; Brunner, H.G.; Hoefsloot, L.H.; Ravenswaaij-Arts, C.M.A. van |
| | 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 | 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.; Janssen, I.M.; Reijmersdal, S.V. van; Nillesen, W.M.; Huys, E.; Leeuw, N. de; Smeets, D.F.C.M.; Sistermans, E.A.; Feuth, A.B.; Ravenswaaij-Arts, C.M.A. van; Geurts van Kessel, A.H.M.; Schoenmakers, E.F.P.M.; Brunner, H.G.; Veltman, J.A. |
| | 2005 | Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. | Koolen, D.A.; Reardon, W.; Rosser, E.M.; Lacombe, D.; Hurst, J.A.; Law, C.J.; Bongers, E.M.H.F.; Ravenswaaij-Arts, C.M.A. van; Leisink, M.A.R.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Vries, L.B.A. de |
| | 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; Sistermans, E.A.; Veltman, J.A.; Vries, B.D. de |
| | 2004 | Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome. | Ausems, M.G.E.M.; Schuil, J.; Ravenswaaij-Arts, C.M.A. van; Pater, J.M. de |
| | 2004 | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. | Vissers, L.E.L.M.; Ravenswaaij-Arts, C.M.A. van; Admiraal, R.J.C.; Hurst, J.A.; Vries, L.B.A. de; Janssen, I.M.; Vliet, W.A. van der; Huys, E.; Jong, P.J. de; Hamel, B.C.J.; Schoenmakers, E.F.P.M.; Brunner, H.G.; Veltman, J.A.; Geurts van Kessel, A.H.M. |
| | 2004 | Chromosome 3 translocations and familial renal cell cancer. | Bonne, A.; Bodmer, D.; Schoenmakers, E.F.P.M.; Ravenswaaij-Arts, C.M.A. van; Hoogerbrugge-van der Linden, N.; Geurts van Kessel, A.H.M. |
| | 2004 | Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. | Bartels, C.F.; Bukulmez, H.; Padayatti, P.; Rhee, D.K.; Ravenswaaij-Arts, C.M.A. van; Pauli, R.M.; Mundlos, S.; Chitayat, D.; Shih, L.Y.; Al-Gazali, L.; Kant, S.; Cole, T.; Morton, J.; Cormier-Dalre, V.; Faivre, L.; Lees, M.; Kirk, J.; Mortier, G.R.; Leroy, J.G.; Zabel, B.; Kim, C.; Crow, Y.J.; Braverman, N.E.; Akker, F. van den; Warman, M.L. |
| | 2004 | Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers. | Arens, Y.H.; Engelen, J.J.M.; Govaerts, L.C.P.; Ravenswaaij-Arts, C.M.A. van; Loneus, W.H.; Lent-Albrechts, J.C. van; Blij-Philipsen, M. van der; Hamers, A.J.H.; Schrander-Stumpel, C.T.R.M. |
| | 2004 | A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. | Steensel, M.A.M. van; Steijlen, P.M.; Bladergroen, R.; Hoefsloot, L.H.; Ravenswaaij-Arts, C.M.A. van; Geel, M. van |
| | 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.; Kets, M.; Vermeer, S.; Ravenswaaij-Arts, C.M.A. van; Kovel, C.G.F. de; Brunner, H.G.; Smeets, D.F.C.M.; Vries, L.B.A. de; Sistermans, E.A. |
| | 1998 | Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 | Vleuten, A.J.W. van der; Ravenswaaij-Arts, C.M.A. van; Frijns, C.J.M.; Smits, A.P.T.; Hageman, G.; Padberg, G.W.; Kremer, H. |
| | 1997 | At least nine cases of trisomy 11q23->qter in one generation as a result of familial t(11;13) translocation | Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van; Pater, J.M. de; Gerssen-Schoorl, K.B.J.; Hemel, J.O. van; Janssen, A.H.; Smits, A.P.T. |
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