Resultats de la cerca - Corry M.R. Weemaes

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  1. 1
    Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

    Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF) per Melanie Ehrlich, Kelly E. Jackson, Corry M.R. Weemaes

    Publicat 2006
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  2. 2
    Multidrug Resistance in<i>Aspergillus fumigatus</i>

    Multidrug Resistance in<i>Aspergillus fumigatus</i> per Adilia Warris, Corry M.R. Weemaes, Paul E. Verweij

    Publicat 2002
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  3. 3
    Failure To Detect Circulating <i>Aspergillus</i> Markers in a Patient with Chronic Granulomatous Disease and Invasive Aspergillosis

    Failure To Detect Circulating <i>Aspergillus</i> Markers in a Patient with Chronic Granulomatous Disease and Invasive Aspergillosis per Paul E. Verweij, Corry M.R. Weemaes, Jo H. A. J. Curfs, Stéphane Bretagne, Jacques F. Meis

    Publicat 2000
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  4. 4
    The <i>DNMT3B</i> DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

    The <i>DNMT3B</i> DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome per R. Scott Hansen, Cisca Wijmenga, Ping Luo, Ann M. Stanek, Theresa K. Canfield, Corry M.R. Weemaes, Stanley M. Gartler

    Publicat 1999
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  5. 5
    Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the<i>CYBB</i>Gene

    Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the<i>CYBB</i>Gene per Martin de Boer, Karin van Leeuwen, Judy Geissler, Corry M.R. Weemaes, Timo K. van den Berg, Taco W. Kuijpers, Adilia Warris, Dirk Roos

    Publicat 2014
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  6. 6
    Chromosome instability syndromes

    Chromosome instability syndromes per A. Malcolm R. Taylor, Cynthia Rothblum‐Oviatt, Nathan A. Ellis, Ian D. Hickson, Stefan Meyer, Thomas O. Crawford, Agata Smogorzewska, Barbara Pietrucha, Corry M.R. Weemaes, Grant S. Stewart

    Publicat 2019
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  7. 7
    Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?

    Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation? per Lynn Yuun Tirng Chiam, M.M.M. Verhagen, Ásgeir Haraldsson, N. M. Wulffraat, Gertjan J. Driessen, M.G. Netea, Corry M.R. Weemaes, Marieke M.B. Seyger, Marcel van Deuren

    Publicat 2011
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  8. 8
    NBS1 Recruits RAD18 via a RAD6-like Domain and Regulates Pol η-Dependent Translesion DNA Synthesis

    NBS1 Recruits RAD18 via a RAD6-like Domain and Regulates Pol η-Dependent Translesion DNA Synthesis per Hiromi Yanagihara, Junya Kobayashi, Satoshi Tateishi, Akihiro Kato, Shinya Matsuura, Hiroshi Tauchi, Kouichi Yamada, Jun Takezawa, Kaoru Sugasawa, Chikahide Masutani, Fumio Hanaoka, Corry M.R. Weemaes, Toshio Mori, Lee Zou, Kenshi Komatsu

    Publicat 2011
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  9. 9
    Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

    Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings per Nienke J.H. van Os, Koen van Aerde, Judith van Gaalen, Peter Merkus, Laura Silveira‐Moriyama, Tajul A Tajudin, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Marieke Dekker, Michèl A.A.P. Willemsen

    Publicat 2020
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  10. 10
    DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

    DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes per Melanie Ehrlich, Kent L. Buchanan, Fern Tsien, Guanchao Jiang, Baodong Sun, William C. Uicker, Corry M.R. Weemaes, Dominique Smeets, Karl Sperling, Bernd H. Belohradsky, Niels Tommerup, David E. Misek, Jean Marie Rouillard, Rork Kuick, Samir Hanash

    Publicat 2001
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  11. 11
    Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

    Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours per Anne Reiman, Venkataramanan Srinivasan, Giancarlo Barone, J. I. Last, Laura L. Wootton, E. Graham Davies, M.M.M. Verhagen, Michèl A.A.P. Willemsen, Corry M.R. Weemaes, Philip J. Byrd, L Izatt, D F Easton, D. J. Thompson, Adam Taylor

    Publicat 2011
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  12. 12
    The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes

    The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes per Riny Janssen, Annelies van Wengen, Marieke A. Hoeve, Monique ten Dam, Miriam van der Burg, Jacques J. M. van Dongen, Esther van de Vosse, Maarten van Tol, Robbert G. M. Bredius, Tom H. M. Ottenhoff, Corry M.R. Weemaes, Jaap T. van Dissel, Arjan C. Lankester

    Publicat 2004
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  13. 13
    Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

    Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome per Raymonda Varon, Christine Vissinga, Matthias Platzer, Karen Cerosaletti, Krystyńa Chrzańowska, Kathrin Saar, Georg Beckmann, E Seemanová, Paul R. Cooper, Norma J. Nowak, Markus Stümm, Corry M.R. Weemaes, Richard A. Gatti, Richard K. Wilson, Martin Digweed, André Rosenthal, Karl Sperling, Patrick Concannon, André Reis

    Publicat 1998
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  14. 14
    Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

    Genetic variation in ICF syndrome: Evidence for genetic heterogeneity per Cisca Wijmenga, R. Scott Hansen, Giorgio Gimelli, Erik J. Bj�rck, E. Graham Davies, David L. Valentine, Bernd H. Belohradsky, Jacques J. M. van Dongen, Dominique Smeets, Lambert P.W.J. van den Heuvel, Jan A.F.M. Luyten, Eric Strengman, Corry M.R. Weemaes, P. Pearson

    Publicat 2000
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  15. 15
    Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

    Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia per Katherine Schon, Nienke J.H. van Os, Nicholas Oscroft, Helen Baxendale, Daniel Scoffings, Julian Ray, Mohnish Suri, William Whitehouse, Puja R. Mehta, Natasha Everett, Leonardo Bottolo, Bart P.C. van de Warrenburg, Philip J. Byrd, Corry M.R. Weemaes, Michèl A.A.P. Willemsen, Marc Tischkowitz, A. Malcolm R. Taylor, Anke Hensiek

    Publicat 2018
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  16. 16
    Ataxia-telangiectasia: Immunodeficiency and survival

    Ataxia-telangiectasia: Immunodeficiency and survival per Nienke J.H. van Os, Anne F.M. Jansen, Marcel van Deuren, Ásgeir Haraldsson, Nieke T.M. van Driel, Amos Etzioni, Michiel van der Flier, Charlotte A. Haaxma, Tomohiro Morio, Amit Rawat, M.H.D. Schoenaker, Annarosa Soresina, A. Malcolm R. Taylor, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Nel Roeleveld, Michèl A.A.P. Willemsen

    Publicat 2017
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  17. 17
    Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

    Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects per Corry M.R. Weemaes, Maarten JD van Tol, Jun Wang, Monique M. van Ostaijen-ten Dam, Marja CJA van Eggermond, Peter Thijssen, Caner Aytekin, Nicola Brunetti‐Pierri, Mirjam van der Burg, E. Graham Davies, Alina Ferster, Dieter Furthner, Giorgio Gimelli, A Gennery, Barbara Kloeckener‐Gruissem, M. Stephen Meyn, Cynthia M. Powell, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Andrea Shugar, Peter J. van den Elsen, Silvère M. van der Maarel

    Publicat 2013
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  18. 18
    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 per Jessica C. de Greef, Jun Wang, Judit Balog, Johan T. den Dunnen, Rune R. Frants, Kirsten R. Straasheijm, Caner Aytekin, Mirjam van der Burg, Laurence Duprez, Alina Ferster, Andrew R. Gennery, Giorgio Gimelli, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Dominique Smeets, Yves Sznajer, Cisca Wijmenga, M C van Eggermond, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Maarten J. D. van Tol, Peter J. van den Elsen, Corry M.R. Weemaes, Silvère M. van der Maarel

    Publicat 2011
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  19. 19
    The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

    The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity per Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann, Isabella Quinti, Matthew Buckland, Joris van Montfrans, Raphael Scheible, Stephan Rusch, Lukas Gasteiger, Bodo Grimbacher, Nizar Mahlaoui, Stephan Ehl, Mario Abinun, Michael H. Albert, Sarah Beaussant-Cohen, Jacinta Bustamante, Andrew J. Cant, Jean‐Laurent Casanova, Helen Chapel, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Jean Donadieu, Anne Durandy, David Edgar, Teresa Español, Amos Etzioni, Alain Fischer, Bobby Gaspar, Richard A. Gatti, Andrew R. Gennery, Sofia Grigoriadou, Steven M. Holland, Gritta Janka, Maria Kanariou, Christoph Klein, Helen J. Lachmann, Desa Lilić, Ania Manson, N. Pascual Martínez, Isabelle Meyts, Nicolette Moes, Despina Moshous, Bénédicte Neven, Hans D. Ochs, Capucine Pïcard, Ellen D. Renner, Frédéric Rieux‐Laucat, Reinhard Seger, Annarosa Soresina, Dominique Stoppa‐Lyonnet, Vojtěch Thon, Adrian J. Thrasher, Frank L. van de Veerdonk, Anna Villa, Corry M.R. Weemaes, Klaus Warnatz, Beata M. Wolska, Shen-Yin Zhang

    Publicat 2019
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