Søgeresultater - Astrid Oudakker

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  1. 1
    Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

    Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia af Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer, Céline Moutou, Anne-Sophie Jaeger, Astrid Oudakker, Herman Tournaye, Nicolas Charlet‐Berguerand, Clotilde Lagier‐Tourenne, Hans van Bokhoven, Stéphane Viville

    Udgivet 2007
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  2. 2
    Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

    Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling af Marco Benevento, Giovanni Iacono, Martijn Selten, Wei Ba, Astrid Oudakker, Monica Frega, Jason Keller, Roberta Mancini, Elly Lewerissa, Tjitske Kleefstra, Henk G. Stunnenberg, Huiqing Zhou, Hans van Bokhoven, Nael Nadif Kasri

    Udgivet 2016
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  3. 3
    Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

    Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype af Monica Frega, Martijn Selten, Britt Mossink, Jason M. Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Martina Johanna Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif Kasri

    Udgivet 2020
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  4. 4
    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome af Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier‐Daire, Hilde Van Esch, Jean‐Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven

    Udgivet 2006
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  5. 5
    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders af Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven, Michele Gabriele, Monica Frega, Teun M. Klein Gunnewiek, Lynn Devilée, Edda Ulferts, Marina P. Hommersom, Astrid Oudakker, Chantal Schoenmaker, Hans van Bokhoven, Dirk Schubert, Giuseppe Testa, David A. Koolen, Bert B.A. de Vries, Nael Nadif Kasri

    Udgivet 2021
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  6. 6
    Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

    Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling af Monica Frega, Katrin Linda, Jason M. Keller, Güvem Gümüş‐Akay, Britt Mossink, Jon-Ruben van Rhijn, Moritz Negwer, Teun M. Klein Gunnewiek, Katharina Foreman, Nine Kompier, Chantal Schoenmaker, Willem M.R. van den Akker, Ilse van der Werf, Astrid Oudakker, Huiqing Zhou, Tjitske Kleefstra, Dirk Schubert, Hans van Bokhoven, Nael Nadif Kasri

    Udgivet 2019
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  7. 7
    ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

    ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation af Dorien Lugtenberg, Helger G. Yntema, Martijn J.G. Banning, Astrid Oudakker, Helen V. Firth, Lionel Willatt, Martine Raynaud, Tjitske Kleefstra, Jean‐Pierre Fryns, Hans‐Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gécz, Jeroen van Reeuwijk, Sander B. Nabuurs, Bert B.A. de Vries, Ben C.J. Hamel, Arjan P.M. de Brouwer, Hans van Bokhoven

    Udgivet 2006
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  8. 8
    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy af Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, D. Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean‐Michel Pédespan, Bernard Échenne, Gholamali Tariverdian, Declan O’Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gécz, Ben C.J. Hamel, Hans van Bokhoven, Arjan P.M. de Brouwer

    Udgivet 2008
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  9. 9
    Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

    Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrom... af Monique C.M. Balemans, Muhammad Ansar, Astrid Oudakker, A. van Caam, Brenda Bakker, E.L. Vitters, P.M. van der Kraan, Diederik R.H. de Bruijn, Sanne Janssen, Arthur J. Kuipers, Manon M. H. Huibers, Eliza M. Maliepaard, X. Frank Walboomers, Marco Benevento, Nael Nadif Kasri, Tjitske Kleefstra, Huiqing Zhou, Catharina E.E.M. Van der Zee, Hans van Bokhoven

    Udgivet 2013
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  10. 10
    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome af Zafar Iqbal, Pilar Cejudo–Martín, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz‐Lozano, Maria Cecilia Scimia, James D. Lindsey, Robert N. Weinreb, Beate Albrecht, André Mégarbané, Yasemin Alanay, Ziva Ben‐Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A. Veltman, Ellen van Beusekom, Astrid Oudakker, José Luís Millán, Raoul C. M. Hennekam, Ben C.J. Hamel, Sara A. Courtneidge, Hans van Bokhoven

    Udgivet 2010
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  11. 11
    Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

    Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks af Britt Mossink, Jon-Ruben van Rhijn, Shan Wang, Katrin Linda, Maria Rosaria Vitale, Johanna E. M. Zöller, Eline van Hugte, Jitske Bak, Anouk H. A. Verboven, Martijn Selten, Moritz Negwer, Brooke Latour, Ilse van der Werf, Jason M. Keller, Teun M. Klein Gunnewiek, Chantal Schoenmaker, Astrid Oudakker, Alessia Anania, Sophie Martina Johanna Jansen, Klaus‐Peter Lesch, Monica Frega, Hans van Bokhoven, Dirk Schubert, Nael Nadif Kasri

    Udgivet 2021
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  12. 12
    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium af Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanna G.M. Frints, Guy Froyen, Jean‐Pierre Fryns, Martine Raynaud, Marie‐Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, L. Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gécz, Andreas W. Kuß, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans‐Hilger Ropers, Ben C.J. Hamel

    Udgivet 2007
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