Search Results - Tjitske Kleefstra

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  1. 1
    Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

    Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome by Tjitske Kleefstra

    Published 2005
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  2. 2
    Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

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

    Published 2011
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  3. 3
    Tooth agenesis and orofacial clefting: genetic brothers in arms?

    Tooth agenesis and orofacial clefting: genetic brothers in arms? by Milien Phan, Federica Conte, Kriti D. Khandelwal, Charlotte W. Ockeloen, Theodosia Bartzela, Tjitske Kleefstra, Hans van Bokhoven, Michele Rubini, Huiqing Zhou, Carine Carels

    Published 2016
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  4. 4
    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases by Lotte Krabbenborg, Lisenka E.L.M. Vissers, Jolanda Schieving, Tjitske Kleefstra, Erik-Jan Kamsteeg, Joris A. Veltman, Michèl A.A.P. Willemsen, Simone van der Burg

    Published 2016
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  5. 5
    DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

    DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care by Tess Levy, Paige M. Siper, Bonnie Lerman, Danielle Halpern, Jessica Zweifach, Puneet Belani, Audrey Thurm, Tjitske Kleefstra, Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Dorothy E. Grice

    Published 2022
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  6. 6
    Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

    Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies by Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray‐Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter Krawitz

    Published 2019
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  7. 7
    “It seems enormously valuable to me.” Perspectives of Dutch (potential) carriers of genetic FTD on onset-predictive biomarker testing

    “It seems enormously valuable to me.” Perspectives of Dutch (potential) carriers of genetic FTD on onset-predictive biomarker testing by Charlotte H. Graafland, Harro Seelaar, Jessica Panman, Lize C. Jiskoot, Tjitske Kleefstra, Jackie M. Poos, Edo Richard, Maartje Schermer, John C. van Swieten, Laura Donker Kaat, Eline M. Bunnik

    Published 2025
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  8. 8
    Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

    Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules by Korinna Kochinke, Christiane Zweier, Bonnie Nijhof, Michaela Fencková, Pavel Čížek, Frank Honti, Shivakumar Keerthikumar, Merel A.W. Oortveld, Tjitske Kleefstra, Jamie M. Kramer, Caleb Webber, Martijn A. Huynen, Annette Schenck

    Published 2016
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  9. 9
    High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

    High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation by Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra, Rose S. deGrauw, Helger G. Yntema, Nadia Bahi, Claude Moraine, Hans‐Hilger Ropers, Jean‐Pierre Fryns, Ton J. deGrauw, Cornelis Jakobs, Gajja S. Salomons

    Published 2004
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  10. 10
    Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

    Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling by 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

    Published 2016
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  11. 11
    Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

    Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro by Britt Mossink, Anouk H. A. Verboven, Eline van Hugte, Teun M. Klein Gunnewiek, Giulia Parodi, Katrin Linda, Chantal Schoenmaker, Tjitske Kleefstra, Tamás Kozicz, Hans van Bokhoven, Dirk Schubert, Nael Nadif Kasri, Monica Frega

    Published 2021
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  12. 12
    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 by 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

    Published 2009
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  13. 13
    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism by Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud

    Published 2009
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  14. 14
    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 by 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

    Published 2020
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  15. 15
    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 by 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

    Published 2014
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  16. 16
    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa... by Tracy Dudding‐Byth, Anne Baxter, Elizabeth Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han G. Brunner, Bert de Vries, David A. Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell

    Published 2017
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  17. 17
    Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway

    Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway by Shan Wang, Jon-Ruben van Rhijn, Ibrahim A. Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert

    Published 2022
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  18. 18
    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 by 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

    Published 2006
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  19. 19
    Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

    Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals by Lottie D. Morison, Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer, Adam P. Vogel, Frédérique Liégeois, Amanda Brignell, Siddharth Srivastava, Zoë Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. Scheffer, Tjitske Kleefstra, Angela Morgan

    Published 2024
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  20. 20
    Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

    Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing by Wei Chen, Reinhard Ullmann, Claudia Langnick, Corinna Menzel, Zofia Wotschofsky, Hao Hu, Andreas Gogol‐Döring, Yuhui Hu, Hui Kang, Andreas Tzschach, Maria Hoeltzenbein, Heidemarie Neitzel, Susanne Markus, Eberhard Wiedersberg, G Kistner, Conny M. A. van Ravenswaaij-Arts, Tjitske Kleefstra, Vera M. Kalscheuer, Hans‐Hilger Ropers

    Published 2009
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