Rezultati pretrage - Christiane Zweier

Detaljiziraj rezultate
  1. 1
    Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

    Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions od Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine Campbell, Anita Rauch

    Izdano 2007
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  2. 2
    Intellectual disability and autism spectrum disorders ‘on the fly’: insights from <i>Drosophila</i>

    Intellectual disability and autism spectrum disorders ‘on the fly’: insights from <i>Drosophila</i> od Mireia Coll-Tané, Alina Krebbers, Anna Castells‐Nobau, Christiane Zweier, Annette Schenck

    Izdano 2019
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  3. 3
    Deregulated ion channels contribute to <i>RHOBTB2</i>-associated developmental and epileptic encephalopathy

    Deregulated ion channels contribute to <i>RHOBTB2</i>-associated developmental and epileptic encephalopathy od Franziska Langhammer, Anne Gregor, Niels R. Ntamati, Arif B. Ekici, Beate Winner, Thomas Nevian, Christiane Zweier

    Izdano 2025
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  4. 4
    Exome Pool-Seq in neurodevelopmental disorders

    Exome Pool-Seq in neurodevelopmental disorders od Bernt Popp, Arif B. Ekici, Christian T. Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier

    Izdano 2017
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  5. 5
    “Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

    “Mowat‐Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies‐mental retardation syndrome caused by mutations in the zinc... od Christiane Zweier, Beate Albrecht, Beate Mitulla, R. Behrens, Maike Beese, Gabriele Gillessen‐Kaesbach, Hans‐Dieter Rott, Anita Rauch

    Izdano 2002
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  6. 6
    Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

    Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling od Georgia Vasileiou, Arif B. Ekici, Steffen Uebe, Christiane Zweier, Juliane Hoyer, Hartmut Engels, Jürgen Behrens, André Reis, Michel V. Hadjihannas

    Izdano 2015
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  7. 7
    Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

    Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot od R. Rauch, Michael Hofbeck, Christiane Zweier, A. Koch, Stefan Zink, Udo Trautmann, Joachim Hoyer, Renate Kaulitz, H. Singer, Anita Rauch

    Izdano 2009
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  8. 8
    In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of &lt;b&gt;&lt;i&gt;SMARCA2&lt;/i&gt;&lt;/b&gt; in Three Patients with Nicolaides-Baraitser Syndrome

    In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of &lt;b&gt;&lt;i&gt;SMARCA2&lt;/i&gt;&lt;/b&gt; in Three Patients with Nicolaides-Baraitser Syndrome od Dietmar Wolff, Sabine Endele, Silvia Azzarello‐Burri, Juliane Hoyer, Markus Zweier, Ina Schanze, Bernhard Schmitt, Anita Rauch, André Reis, Christiane Zweier

    Izdano 2011
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  9. 9
    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation od Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian T. Thiel, Franz Rüschendorf, Peter Nürnberg, André Reis, Udo Trautmann

    Izdano 2006
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  10. 10
    Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons

    Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity o... od Matthias Jung, Benjamin M. Häberle, Tristan Tschaikowsky, Marie‐Theres Wittmann, Elli‐Anna Balta, Vivien-Charlott Stadler, Christiane Zweier, Arnd Dörfler, Christian Johannes Gloeckner, D. Chichung Lie

    Izdano 2018
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  11. 11
    Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

    Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator od Christian T. Thiel, Denise Horn, Bernhard Zabel, Arif B. Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, J. Spranger, Dietmar Müller, Christiane Zweier, Mark E. Schmitt, André Reis, Anita Rauch

    Izdano 2005
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  12. 12
    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 od 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

    Izdano 2016
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  13. 13
    CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

    CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila od Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian Bomme Ousager, Amanda Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch

    Izdano 2009
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  14. 14
    De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

    De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability od Anne Gregor, Martin Oti, Evelyn N. Kouwenhoven, Juliane Hoyer, Heinrich Sticht, Arif B. Ekici, Susanne Kjærgaard, Anita Rauch, H.G. Stunnenberg, Steffen Uebe, Georgia Vasileiou, André Reis, Huiqing Zhou, Christiane Zweier

    Izdano 2013
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  15. 15
    Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

    Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination od Joke Vandewalle, Hilde Van Esch, Karen Govaerts, Jelle Verbeeck, Christiane Zweier, Irene Madrigal, Montserrat Milà, E Pijkels, Isabel Fernández, Jürgen Kohlhase, Christiane Spaich, Anita Rauch, Jean‐Pierre Fryns, Peter Marynen, Guy Froyen

    Izdano 2009
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  16. 16
    Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

    Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development od Babacar Cisse, Michele L. Caton, Manfred Lehner, Takahiro Maeda, Stefanie Scheu, Richard M. Locksley, Dan Holmberg, Christiane Zweier, Nicolette S. den Hollander, Sarina G. Kant, Wolfgang Holter, Anita Rauch, Yuan Zhuang, Boris Reizis

    Izdano 2008
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  17. 17
    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome od Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Katharina Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M.A. Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche

    Izdano 2014
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  18. 18
    Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

    Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for... od Helen Griffin, Ana Töpf, Elise Glen, Christiane Zweier, Graham Stuart, J M Parsons, Ian Peart, John Deanfield, John O’Sullivan, Anita Rauch, Peter Scambler, John Burn, Heather J. Cordell, Bernard Keavney, JA Goodship

    Izdano 2010
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  19. 19
    Zeb2 recruits HDAC–NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination

    Zeb2 recruits HDAC–NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination od Lai Man Natalie Wu, Jincheng Wang, Andrea Conidi, Chuntao Zhao, Haibo Wang, Zachary K. Ford, Liguo Zhang, Christiane Zweier, Brian Ayee, Patrice Maurel, An Zwijsen, Jonah R. Chan, Michael P. Jankowski, Danny Huylebroeck, Q. Richard Lu

    Izdano 2016
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  20. 20
    Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders

    Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders od Michaela Fencková, Laura E.R. Blok, Lenke Asztalos, David P. Goodman, Pavel Čížek, Euginia L. Singgih, Jeffrey Glennon, Joanna IntHout, Christiane Zweier, Evan E. Eichler, Catherine R. von Reyn, Raphael Bernier, Zoltán Asztalos, Annette Schenck

    Izdano 2019
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