نتائج البحث - Marjolein H. Willemsen

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  1. 1
    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms حسب Mala Isrie, Yvonne Hendriks, N Gielissen, Erik A. Sistermans, Marjolein H. Willemsen, Hilde Peeters, Joris Vermeesch, Tjitske Kleefstra, Hilde Van Esch

    منشور في 2011
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    Carta
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  2. 2
    De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

    De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity حسب Li Xia, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M. Snoeijen‐Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein H. Willemsen, Qing K. Wang

    منشور في 2018
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    Artigo
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  3. 3
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome حسب Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    منشور في 2009
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    Artigo
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  4. 4
    Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function

    Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function حسب Marjolein H. Willemsen, Wei Ba, W.M. Wissink-Lindhout, Arjan P.M. de Brouwer, Stefan A. Haas, Melanie Bienek, Hao Hu, Lisenka E.L.M. Vissers, Hans van Bokhoven, Vera M. Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra

    منشور في 2014
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    Artigo
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  5. 5
    De novo gain-of-function and loss-of-function mutations of<i>SCN8A</i>in patients with intellectual disabilities and epilepsy

    De novo gain-of-function and loss-of-function mutations of<i>SCN8A</i>in patients with intellectual disabilities and epilepsy حسب Maxime G. Blanchard, Marjolein H. Willemsen, Jaclyn B Walker, Sulayman D. Dib‐Hajj, Stephen G. Waxman, Marjolijn C.J. Jongmans, Tjitske Kleefstra, Bart P.C. van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G. Yntema, René J.M. Bindels, Miriam H. Meisler, Erik-Jan Kamsteeg

    منشور في 2015
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    Artigo
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  6. 6
    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability حسب Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers

    منشور في 2012
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    Artigo
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  7. 7
    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder حسب Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders, Sonja de Munnik, Marjolein H. Willemsen, Michaela Fencková, Connie T. R. M. Stumpel, Levinus A. Bok, Margarita Sáenz, Kyna A. Byerly, Linda B. Baughn, Alexander P.A. Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M. Kramer

    منشور في 2017
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  8. 8
    Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

    Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability حسب Francesca M. Snoeijen‐Schouwenaars, Jans S. van Ool, Judith Verhoeven, Petra van Mierlo, Hilde M. H. Braakman, Eric Smeets, Joost Nicolai, Jeroen Schoots, Mariël W.A. Teunissen, Rob P.W. Rouhl, Francis Tan, Helger G. Yntema, Han G. Brunner, Rolph Pfundt, Alexander P.A. Stegmann, Erik‐Jan Kamsteeg, Helenius J. Schelhaas, Marjolein H. Willemsen

    منشور في 2018
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    Artigo
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  9. 9
    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability حسب Marjolein H. Willemsen, Astrid Vallès, Laurens A. M. H. Kirkels, Mathilde Mastebroek, Nikkie Olde Loohuis, Aron Kos, W.M. Wissink-Lindhout, Arjan P.M. de Brouwer, Willy M. Nillesen, Rolph Pfundt, Muriel Holder‐Espinasse, Louis Vallée, Joris Andrieux, Marjolein C. Coppens‐Hofman, Hanneke Rensen, Ben C.J. Hamel, Hans van Bokhoven, Armaz Aschrafi, Tjitske Kleefstra

    منشور في 2011
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  10. 10
    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID حسب Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Denglin Li, David G. Amaral, Francesca Cristofoli, Hilde Peeters, E Haan, Corrado Romano, Heather C. Mefford, Ingrid E. Scheffer, Jozef Gécz, Bert B.A. de Vries, Evan E. Eichler

    منشور في 2015
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  11. 11
    Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

    Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability حسب Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, W.M. Wissink-Lindhout, Michaela Fencková, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven

    منشور في 2012
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  12. 12
    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations حسب Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje W.M. van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, Elizabeth A. Jones, Han G. Brunner, Rosa Laura E. van Loon, Eric Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniené, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J. J. Maal, Celeste C. van Heumen, Helger G. Yntema, Carine Carels, Tjitske Kleefstra

    منشور في 2014
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    Artigo
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  13. 13
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP حسب Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    منشور في 2014
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  14. 14
    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophila</i>

    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophi... حسب Marjolein H. Willemsen, Bonnie Nijhof, Michaela Fencková, Willy M. Nillesen, Ernie M.H.F. Bongers, Anna Castells‐Nobau, Lenke Asztalos, Erika Viràgh, Bregje W.M. van Bon, Emre Tezel, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries, Joep de Ligt, Helger G. Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltán Asztalos, David A. Koolen, Lisenka E.L.M. Vissers, Annette Schenck, Tjitske Kleefstra

    منشور في 2013
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  15. 15
    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability حسب Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi J.C. Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen

    منشور في 2016
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    Revisão
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  16. 16
    Update on Kleefstra Syndrome

    Update on Kleefstra Syndrome حسب Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, W.M. Wissink-Lindhout, Hans van Bokhoven, N. Philip, Elizabeth Berry‐Kravis, Usha Kini, Conny M.A. van Ravenswaaij‐Arts, Barbara Delle Chiaie, A. Micheil Innes, Gunnar Houge, T Kosonen, Kirsten Cremer, Madeleine Fannemel, Asbjørg Stray‐Pedersen, William Reardon, Jaakko Ignatius, Katherine Lachlan, Clotilde Mircher, P.T.J.M. Helderman van den Enden, Mathilde Mastebroek, Petra E. Cohn‐Hokke, Helger G. Yntema, Séverine Drunat, Tjitske Kleefstra

    منشور في 2011
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  17. 17
    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability حسب Gunnar Houge, Dorien Haesen, Lisenka E.L.M. Vissers, Sarju Mehta, Michael Parker, Michael Wright, Julie Vogt, Shane McKee, John Tolmie, Nuno Cordeiro, Tjitske Kleefstra, Marjolein H. Willemsen, Margot R.F. Reijnders, Siren Berland, E. HAYMAN, Eli Lahat, Eva H. Brilstra, Koen L.I. van Gassen, Evelien Zonneveld‐Huijssoon, Charlotte I. de Bie, Alexander Hoischen, Evan E. Eichler, Rita Holdhus, Vidar M. Steen, Stein Ove Do̷skeland, Matthew E. Hurles, David Fitzpatrick, Veerle Janssens

    منشور في 2015
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  18. 18
    Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

    Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype حسب Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen, Valérie Cormier‐Daire, Gunnar Houge, Nicki Foulds, Marieke van Dooren, Marjolein H. Willemsen, Rolph Pfundt, Anne‐Marie W. Turner, Meredith Wilson, Julie McGaughran, Anita Rauch, Martin Zenker, Margaret P Adam, A. Micheil Innes, C. Davies, Antonio González-Meneses López, Rosario Casalone, Astrid Weber, L A Brueton, Alain Navarro, María Palomares‐Bralo, Hanka Venselaar, Alexander P.A. Stegmann, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner

    منشور في 2009
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  19. 19
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome حسب Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    منشور في 2017
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  20. 20
    KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

    KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism حسب Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James J. Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van‐Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S. Møller, Allan Bayat, Orrin Devinsky, Tristan T. Sands, Georg Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva H. Brilstra, Gaëtan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen

    منشور في 2022
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