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Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 9, p. 2728, doi. 10.1111/epi.18054
By:
- Cuccurullo, Claudia;
- Cerulli Irelli, Emanuele;
- Ugga, Lorenzo;
- Riva, Antonella;
- D'Amico, Alessandra;
- Cabet, Sara;
- Lesca, Gaetan;
- Bilo, Leonilda;
- Zara, Federico;
- Iliescu, Catrinel;
- Barca, Diana;
- Fung, France;
- Helbig, Katherine;
- Ortiz‐Gonzalez, Xilma;
- Schelhaas, Helenius J.;
- Willemsen, Marjolein H.;
- van der Linden, Inge;
- Canafoglia, Laura;
- Courage, Carolina;
- Gommaraschi, Samuele
Publication type:
Article
Letter: Recruitment of patients with both epilepsy and intellectual disability.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 4, p. 662, doi. 10.1111/epi.12948
By:
- Mierlo, Petra;
- Snoeijen‐Schouwenaars, Francesca M.;
- Veendrick, Monique J. B. M.;
- Tan, In Y.;
- Willemsen, Marjolein H.;
- Schelhaas, H. Jurgen;
- Kleine, Bert U.
Publication type:
Article
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 4, p. 1468, doi. 10.1172/JCI70372
By:
- Tucci, Valter;
- Kleefstra, Tjitske;
- Hardy, Andrea;
- Heise, Ines;
- Maggi, Silvia;
- Willemsen, Marjolein H.;
- Hilton, Helen;
- Esapa, Chris;
- Simon, Michelle;
- Buenavista, Maria-Teresa;
- McGuffin, Liam J.;
- Vizor, Lucie;
- Dodero, Luca;
- Tsaftaris, Sotirios;
- Romero, Rosario;
- Nillesen, Willy N.;
- Vissers, Lisenka E. L. M.;
- Kempers, Marlies J.;
- Vulto-van Silfhout, Anneke T.;
- Iqbal, Zafar
Publication type:
Article
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1821, doi. 10.1002/ajmg.a.38280
By:
- Vermeulen, Karlijn;
- de Boer, Anneke;
- Janzing, Joost G. E.;
- Koolen, David A.;
- Ockeloen, Charlotte W.;
- Willemsen, Marjolein H.;
- Verhoef, Floor M.;
- van Deurzen, Patricia A. M.;
- van Dongen, Linde;
- van Bokhoven, Hans;
- Egger, Jos I. M.;
- Staal, Wouter G.;
- Kleefstra, Tjitske
Publication type:
Article
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2843, doi. 10.1002/ajmg.a.36680
By:
- Snijders Blok, Charlotte;
- Corsten‐Janssen, Nicole;
- FitzPatrick, David R.;
- Romano, Corrado;
- Fichera, Marco;
- Vitello, Girolamo Aurelio;
- Willemsen, Marjolein H.;
- Schoots, Jeroen;
- Pfundt, Rolph;
- van Ravenswaaij‐Arts, Conny M.A.;
- Hoefsloot, Lies;
- Kleefstra, Tjitske
Publication type:
Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Published in:
Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
By:
- Helsmoortel, Céline;
- Vulto-van Silfhout, Anneke T;
- Coe, Bradley P;
- Vandeweyer, Geert;
- Rooms, Liesbeth;
- van den Ende, Jenneke;
- Schuurs-Hoeijmakers, Janneke H M;
- Marcelis, Carlo L;
- Willemsen, Marjolein H;
- Vissers, Lisenka E L M;
- Yntema, Helger G;
- Bakshi, Madhura;
- Wilson, Meredith;
- Witherspoon, Kali T;
- Malmgren, Helena;
- Nordgren, Ann;
- Annerén, Göran;
- Fichera, Marco;
- Bosco, Paolo;
- Romano, Corrado
Publication type:
Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Published in:
PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1006864
By:
- Koemans, Tom S.;
- Kleefstra, Tjitske;
- Chubak, Melissa C.;
- Stone, Max H.;
- Reijnders, Margot R. F.;
- de Munnik, Sonja;
- Willemsen, Marjolein H.;
- Fenckova, Michaela;
- Stumpel, Connie T. R. M.;
- Bok, Levinus A.;
- Sifuentes Saenz, Margarita;
- Byerly, Kyna A.;
- Baughn, Linda B.;
- Stegmann, Alexander P. A.;
- Pfundt, Rolph;
- Zhou, Huiqing;
- van Bokhoven, Hans;
- Schenck, Annette;
- Kramer, Jamie M.
Publication type:
Article
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12435-8
By:
- Guo, Hui;
- Bettella, Elisa;
- Marcogliese, Paul C.;
- Zhao, Rongjuan;
- Andrews, Jonathan C.;
- Nowakowski, Tomasz J.;
- Gillentine, Madelyn A.;
- Hoekzema, Kendra;
- Wang, Tianyun;
- Wu, Huidan;
- Jangam, Sharayu;
- Liu, Cenying;
- Ni, Hailun;
- Willemsen, Marjolein H.;
- van Bon, Bregje W.;
- Rinne, Tuula;
- Stevens, Servi J. C.;
- Kleefstra, Tjitske;
- Brunner, Han G.;
- Yntema, Helger G.
Publication type:
Article
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability.
Published in:
International Medical Case Reports Journal, 2020, v. 13, p. 487, doi. 10.2147/IMCRJ.S270487
By:
- Verhoeven, Willem MA;
- Egger, Jos IM;
- Jongbloed, Rob E;
- Putten, Marloes Meijer van;
- Zandwijk, Marieke de Bruin-van;
- Zwemer, Anne-Suus;
- Pfundt, Rolph;
- Willemsen, Marjolein H
Publication type:
Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
By:
- Ockeloen, Charlotte W;
- Willemsen, Marjolein H;
- de Munnik, Sonja;
- van Bon, Bregje WM;
- de Leeuw, Nicole;
- Verrips, Aad;
- Kant, Sarina G;
- Jones, Elizabeth A;
- Brunner, Han G;
- van Loon, Rosa LE;
- Smeets, Eric EJ;
- van Haelst, Mieke M;
- van Haaften, Gijs;
- Nordgren, Ann;
- Malmgren, Helena;
- Grigelioniene, Giedre;
- Vermeer, Sascha;
- Louro, Pedro;
- Ramos, Lina;
- Maal, Thomas JJ
Publication type:
Article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
By:
- Ockeloen, Charlotte W;
- Willemsen, Marjolein H;
- de Munnik, Sonja;
- van Bon, Bregje WM;
- de Leeuw, Nicole;
- Verrips, Aad;
- Kant, Sarina G;
- Jones, Elizabeth A;
- Brunner, Han G;
- van Loon, Rosa LE;
- Smeets, Eric EJ;
- van Haelst, Mieke M;
- van Haaften, Gijs;
- Nordgren, Ann;
- Malmgren, Helena;
- Grigelioniene, Giedre;
- Vermeer, Sascha;
- Louro, Pedro;
- Ramos, Lina;
- Maal, Thomas JJ
Publication type:
Article
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86
By:
- Goubau, Christophe;
- Devriendt, Koen;
- Van der Aa, Nathalie;
- Crepel, An;
- Wieczorek, Dagmar;
- Kleefstra, Tjitske;
- Willemsen, Marjolein H;
- Rauch, Anita;
- Tzschach, Andreas;
- de Ravel, Thomy;
- Leemans, Peter;
- Van Geet, Chris;
- Buyse, Gunnar;
- Freson, Kathleen
Publication type:
Article
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Published in:
2012
By:
- Isrie, Mala;
- Hendriks, Yvonne;
- Gielissen, Nicole;
- Sistermans, Erik A;
- Willemsen, Marjolein H;
- Peeters, Hilde;
- Vermeesch, Joris R;
- Kleefstra, Tjitske;
- Van Esch, Hilde
Publication type:
Letter
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192
By:
- Willemsen, Marjolein H.;
- Fernandez, Bridget A.;
- Bacino, Carlos A.;
- Gerkes, Erica;
- de Brouwer, Arjan P. M.;
- Pfundt, Rolph;
- Sikkema-Raddatz, Birgit;
- Scherer, Stephen W.;
- Marshall, Christian R.;
- Potocki, Lorraine;
- van Bokhoven, Hans;
- Kleefstra, Tjitske
Publication type:
Article
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 23, doi. 10.1002/jmd2.12097
By:
- Kuper, Willemijn F. E.;
- Alfen, Claudia;
- Eck, Linda;
- Man, Stella A.;
- Willemsen, Marjolein H.;
- Gassen, Koen L. I.;
- Losekoot, Monique;
- Hasselt, Peter M.
Publication type:
Article
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Published in:
Epilepsia Open, 2023, v. 8, n. 4, p. 1300, doi. 10.1002/epi4.12799
By:
- Buijsse, Nathan;
- Jansen, Floor E.;
- Ockeloen, Charlotte W.;
- van Kempen, Marjan J. A.;
- Zeidler, Shimriet;
- Willemsen, Marjolein H.;
- Scarano, Emanuela;
- Monticone, Sonia;
- Zonneveld‐Huijssoon, Evelien;
- Low, Karen J.;
- Bayat, Allan;
- Sisodiya, Sanjay M.;
- Samanta, Debopam;
- Lesca, Gaetan;
- de Jong, Danielle;
- Giltay, Jaqcues C.;
- Verbeek, Nienke E.;
- Kleefstra, Tjitske;
- Brilstra, Eva H.;
- Vlaskamp, Danique R. M.
Publication type:
Article
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12.
Published in:
Epilepsia Open, 2020, v. 5, n. 2, p. 301, doi. 10.1002/epi4.12396
By:
- Willemsen, Marjolein H.;
- Goel, Himanshu;
- Verhoeven, Judith S.;
- Braakman, Hilde M. H.;
- Leeuw, Nicole;
- Freeth, Alison;
- Minassian, Berge A.
Publication type:
Article
Phenytoin as a last-resort treatment in SCN8A encephalopathy.
Published in:
Epilepsia Open, 2017, v. 2, n. 3, p. 343, doi. 10.1002/epi4.12059
By:
- Braakman, Hilde M.;
- Verhoeven, Judith S.;
- Erasmus, Corrie E.;
- Haaxma, Charlotte A.;
- Willemsen, Marjolein H.;
- Schelhaas, H. Jurgen
Publication type:
Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 1, p. 155, doi. 10.1111/epi.14618
By:
- Snoeijen‐Schouwenaars, Francesca M.;
- van Ool, Jans S.;
- Tan, In Y.;
- Verhoeven, Judith S.;
- Mierlo, Petra;
- Braakman, Hilde M. H.;
- Schelhaas, Helenius J.;
- Nicolai, Joost;
- Smeets, Eric E.;
- Stegmann, Alexander P.;
- Brunner, Han G.;
- Willemsen, Marjolein H.;
- Rouhl, Rob P. W.;
- Schoots, Jeroen;
- Yntema, Helger G.;
- Pfundt, Rolph;
- Kamsteeg, Erik‐Jan;
- Teunissen, Mariel W. A.
Publication type:
Article
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3051, doi. 10.1172/JCI79860
By:
- Houge, Gunnar;
- Haesen, Dorien;
- Vissers, Lisenka E. L. M.;
- Mehta, Sarju;
- Parker, Michael J.;
- Wright, Michael;
- Vogt, Julie;
- McKee, Shane;
- Tolmie, John L.;
- Cordeiro, Nuno;
- Kleefstra, Tjitske;
- Willemsen, Marjolein H.;
- Reijnders, Margot R. F.;
- Berland, Siren;
- Hayman, Eli;
- Lahat, Eli;
- Brilstra, Eva H.;
- van Gassen, Koen L. I.;
- Zonneveld-Huijssoon, Evelien;
- de Bie, Charlotte I.
Publication type:
Article
A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.
Published in:
2022
By:
- Verhoeven, Willem MA;
- Egger, Jos IM;
- Mergler, Sandra;
- Meijer, Ton AA;
- Pfundt, Rolph;
- Willemsen, Marjolein H
Publication type:
Case Study
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
By:
- Rots, Dmitrijs;
- Rooney, Kathleen;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Pfundt, Rolph;
- Marcelis, Carlo;
- Willemsen, Marjolein H.;
- van Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Alders, Marielle;
- Õunap, Katrin;
- Reimand, Tiia;
- Fjodorova, Olga;
- Berland, Siren;
- Liahjell, Eva Benedicte;
- Bojovic, Ognjen;
- Kriek, Marjolein;
- Ruivenkamp, Claudia;
- Bonati, Maria Teresa
Publication type:
Article
Genome sequencing identifies major causes of severe intellectual disability.
Published in:
Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
By:
- Gilissen, Christian;
- Hehir-Kwa, Jayne Y.;
- Thung, Djie Tjwan;
- van de Vorst, Maartje;
- van Bon, Bregje W. M.;
- Willemsen, Marjolein H.;
- Kwint, Michael;
- Janssen, Irene M.;
- Hoischen, Alexander;
- Schenck, Annette;
- Leach, Richard;
- Klein, Robert;
- Tearle, Rick;
- Bo, Tan;
- Pfundt, Rolph;
- Yntema, Helger G.;
- de Vries, Bert B. A.;
- Kleefstra, Tjitske;
- Brunner, Han G.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 106, doi. 10.1002/ajmg.a.33715
By:
- Willemsen, Marjolein H.;
- de Leeuw, Nicole;
- Mercer, Catherine;
- Eisenhauer, Helen;
- Morris, Joanne;
- Collinson, Morag N.;
- Barber, John C.K.;
- Lam, Stephen T.S.;
- Lo, Ivan F.M.;
- Rensen, Hanneke;
- Ferwerda, Annemarie;
- Hamel, Ben C.J.;
- Kleefstra, Tjitske
Publication type:
Article
All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 4, p. 527, doi. 10.1002/pd.6314
By:
- Faas, Brigitte H. W.;
- Westra, Dineke;
- de Munnik, Sonja A.;
- van Rij, Maartje;
- Marcelis, Carlo;
- Joosten, Sara;
- Krapels, Ingrid;
- Vernimmen, Vivian;
- Heijligers, Malou;
- Willemsen, Marjolein H.;
- de Leeuw, Nicole;
- Rinne, Tuula;
- Pfundt, Rolph;
- Smeekens, Sanne P.;
- Stegmann, Sander P. A.;
- Macville, Merryn;
- Sikkel, Esther;
- Coumans, Audrey;
- Wijnberger, Lia;
- Derks, Irma
Publication type:
Article
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Published in:
Human Mutation, 2021, v. 42, n. 9, p. 1094, doi. 10.1002/humu.24245
By:
- Semino, Francesca;
- Schröter, Julian;
- Willemsen, Marjolein H.;
- Bast, Thomas;
- Biskup, Saskia;
- Beck‐Woedl, Stefanie;
- Brennenstuhl, Heiko;
- Schaaf, Christian P.;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Haack, Tobias B.;
- Syrbe, Steffen
Publication type:
Article
B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
By:
- Maroofian, Reza;
- Riemersma, Moniek;
- Jae, Lucas T.;
- Zhianabed, Narges;
- Willemsen, Marjolein H.;
- Wissink-Lindhout, Willemijn M.;
- Willemsen, Michèl A.;
- de Brouwer, Arjan P. M.;
- Vahidi Mehrjardi, Mohammad Yahya;
- Ashrafi, Mahmoud Reza;
- Kusters, Benno;
- Kleefstra, Tjitske;
- Jamshidi, Yalda;
- Nasseri, Mojila;
- Pfundt, Rolph;
- Brummelkamp, Thijn R.;
- Abbaszadegan, Mohammad Reza;
- Lefeber, Dirk J.;
- van Bokhoven, Hans
Publication type:
Article
Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome.
Published in:
2018
By:
- Verhoeven, Willem;
- Egger, Jos;
- Räkers, Emmy;
- Erkelens, Arjen van;
- Pfundt, Rolph;
- Willemsen, Marjolein H
Publication type:
Case Study
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
Published in:
Neuropsychiatric Disease & Treatment, 2012, v. 8, p. 175, doi. 10.2147/NDT.S30506
By:
- Verhoeven, Willem M. A.;
- Egger, Jos I. M.;
- Willemsen, Marjolein H.;
- de Leijer, Gert J. M.;
- Kleefstra, Tjitske
Publication type:
Article
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability.
Published in:
BMC Medical Genetics, 2011, v. 12, n. 1, p. 17, doi. 10.1186/1471-2350-12-17
By:
- Pagan, Cecile;
- Botros, Hany Goubran;
- Poirier, Karine;
- Dumaine, Anne;
- Jamain, Stéphane;
- Moreno, Sarah;
- de Brouwer, Arjan;
- Van Esch, Hilde;
- Delorme, Richard;
- Launay, Jean-Marie;
- Tzschach, Andreas;
- Kalscheuer, Vera;
- Lacombe, Didier;
- Briault, Sylvain;
- Laumonnier, Frédéric;
- Raynaud, Martine;
- van Bon, Bregje W.;
- Willemsen, Marjolein H.;
- Leboyer, Marion;
- Chelly, Jamel
Publication type:
Article

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