Search Results - Katharina Wimmer

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  1. 1
    Constitutional mismatch repair-deficiency syndrome

    Constitutional mismatch repair-deficiency syndrome by Katharina Wimmer, Christian P. Kratz

    Published 2010
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  2. 2
    Review and update of<i>SPRED1</i>mutations causing legius syndrome

    Review and update of<i>SPRED1</i>mutations causing legius syndrome by Hilde Brems, Éric Pasmant, Rick van Minkelen, Katharina Wimmer, Meena Upadhyaya, Eric Legius, Ludwine Messiaen

    Published 2012
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  3. 3
    Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1

    Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 by Andrea Zaťková, Ludwine Messiaen, Ina Vandenbroucke, Rotraud Wieser, Christa Fonatsch, Adrian R. Krainer, Katharina Wimmer

    Published 2004
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  4. 4
    Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

    Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome by Christian P. Kratz, Sabine M. Hölter, Julia Etzler, Melchior Lauten, Aaron Pollett, C. Niemeyer, Steven Gallinger, Katharina Wimmer

    Published 2009
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  5. 5
    panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics

    panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics by Gundula Povysil, Antigoni Tzika, Julia Vogt, Verena Haunschmid, Ludwine Messiaen, Johannes Zschocke, Günter Klambauer, Sepp Hochreiter, Katharina Wimmer

    Published 2017
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  6. 6
    ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management

    ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management by Chrystelle Colas, Léa Guerrini‐Rousseau, Manon Suerink, Richard Gallon, Christian P. Kratz, Éloïse Ayuso, Laurence Brugières, Katharina Wimmer

    Published 2024
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  7. 7
    Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption

    Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption by Katharina Wimmer, Xavier Roca, H. Beiglböck, Tom Callens, Julia Etzler, A. R. Rao, Adrian R. Krainer, Christa Fonatsch, Ludwine Messiaen

    Published 2007
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  8. 8
    High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

    High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene by Hildegard Kehrer‐Sawatzki, Lan Kluwe, Catharina Sandig, Matthias Kohn, Katharina Wimmer, Uta Krammer, Andreas Peyrl, Dieter E. Jenne, I. Hansmann, Victor‐Felix Mautner

    Published 2004
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  9. 9
    Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination

    Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination by Katharina Steinmann, D.N. Cooper, Lan Kluwe, Nadia Chuzhanova, Cornelia Senger, Eduard Serra, Conxi Lázaro, Montserrat Gilaberte, Katharina Wimmer, Viktor-Felix Mautner, Hildegard Kehrer‐Sawatzki

    Published 2007
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  10. 10
    A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency

    A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency by Katharina Wimmer, Andreas Beilken, R. Nustede, Tim Ripperger, Britta Lamottke, Benno Ure, Diana Steinmann, Tanja Reineke‐Plaaß, Ulrich Lehmann, Johannes Zschocke, Laura Valle, Christine Fauth, Christian P. Kratz

    Published 2016
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  11. 11
    Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

    Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) by Katharina Wimmer, Christian P. Kratz, Hans F. A. Vasen, Olivier Caron, Chrystelle Colas, Natacha Entz‐Werlé, Anne‐Marie Gerdes, Yael Goldberg, Denisa Ilenčíková, Martine Muleris, Alex Duval, Noémie Lavoine, Clara Ruíz-Ponte, Irene Slavc, B Burkhardt, Laurence Brugières

    Published 2014
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  12. 12
    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome by Annette F. Baas, Michael T. Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphaël, Rutger A. J. Nievelstein, Wayne Nicholls, Johan Offerhaus, Daniëlle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P. Robertson, Mieke M. van Haelst, Katharina Wimmer

    Published 2012
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  13. 13
    Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

    Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D) by Hans F. A. Vasen, Zeinab Ghorbanoghli, Franck Bourdeaut, Odile Cabaret, Olivier Caron, Alex Duval, Natacha Entz‐Werlé, Yael Goldberg, Denisa Ilenčíková, Christian P. Kratz, Noémie Lavoine, Jan Loeffen, F. H. Menko, Martine Muleris, G. Sébille, Chrystelle Colas, B Burkhardt, Laurence Brugières, Katharina Wimmer

    Published 2014
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  14. 14
    Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

    Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy by Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H. Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn C.J. Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris, Mariëtte van Kouwen, Irene Slavc, Christian P. Kratz, Hans F. A. Vasen, Laurence Brugiѐres, Eric Legius, Katharina Wimmer

    Published 2018
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  15. 15
    Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

    Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium by Léa Guerrini‐Rousseau, Pascale Varlet, Chrystelle Colas, Felipe Andreiuolo, Franck Bourdeaut, Karin Dahan, Christine Devalck, Cécile Faure‐Conter, Maurizio Genuardi, Yael Goldberg, Michaela Kuhlen, Salma Moalla, Enrico Opocher, Vanessa Pérez‐Alonso, Astrid Sehested, Irene Slavc, Sheila Unger, Katharina Wimmer, Jacques Grill, Laurence Brugières

    Published 2019
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  16. 16
    Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

    Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome by Anna Schossig, Nicole I. Wolf, Christine Fischer, Maria Fischer, Gernot Stocker, Stephan Pabinger, Andreas Dander, Bernhard Steiner, O Tönz, Dieter Kotzot, Edda Haberlandt, Albert Amberger, Barbara Burwinkel, Katharina Wimmer, Christine Fauth, Caspar Grond‐Ginsbach, Martin Jean Koch, Annette Deichmann, Christof von Kalle, Claus R. Bartram, Alfried Kohlschütter, Zlatko Trajanoski, Johannes Zschocke

    Published 2012
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  17. 17
    Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity

    Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity by Arianna Tucci, Eleanna Kara, Anna Schossig, Nicole I. Wolf, Vincent Plagnol, Katherine A. Fawcett, Coro Paisán‐Ruíz, Matthew Moore, Dena Hernández, S Musumeci, Michael B. Tennison, Raoul C. M. Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather C Mefford, Evan E. Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden

    Published 2012
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  18. 18
    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes by Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William D. Foulkes, Christian P. Kratz, Tim Ripperger, Amedeo A. Azizi, Hagit Baris Feldman, Anne‐Laure Chong, Uğur Demırsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz‐Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Pérez‐Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G. Seidel, Manon Suerink, Julia Taeubner, Stefanie Zimmermann, Johannes Zschocke, Gillian M. Borthwick, John Burn, Michael S. Jackson, Mauro Santibanez‐Koref, Katharina Wimmer

    Published 2019
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  19. 19
    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents by Sahra Bodo, Chrystelle Colas, Olivier Buhard, Ada Collura, Julie Tinat, Noémie Lavoine, Agathe Guilloux, Alexandra Chalastanis, Philippe Lafitte, Florence Coulet, Marie‐Pierre Buisine, Denisa Ilenčíková, Clara Ruíz-Ponte, Miriam Kinzel, S Grandjouan, Hilde Brems, Sophie Lejeune, Hélène Blanché, Qing Wang, Olivier Caron, Odile Cabaret, Magali Svrcek, Dominique Vidaud, Béatrice Parfait, Alain Verloès, Ulrich J. Knappe, Florent Soubrier, Isabelle Mortemousque, Alexander Leis, Jessie Auclair‐Perrossier, Thierry Frébourg, Jean–François Fléjou, Natacha Entz‐Werlé, Julie Leclerc, David Malka, Odile Cohen‐Haguenauer, Yael Goldberg, Anne‐Marie Gerdes, Faten Fedhila, Michèle Mathieu‐Dramard, Richard Hamelin, Wafaa Badre, Marion Gauthier‐Villars, Franck Bourdeaut, Eamonn Sheridan, Hans F. A. Vasen, Laurence Brugières, Katharina Wimmer, Martine Muleris, Alex Duval

    Published 2015
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  20. 20
    Comprehensive Analysis of Hypermutation in Human Cancer

    Comprehensive Analysis of Hypermutation in Human Cancer by Brittany Campbell, Nicholas Light, David Fabrizio, Matthew Zatzman, Fabio Fuligni, Richard de Borja, Scott Davidson, Melissa Edwards, Julia A. Elvin, Karl P. Hodel, Walter J. Zahurancik, Zucai Suo, Tatiana Lipman, Katharina Wimmer, Christian P. Kratz, Daniel C. Bowers, Theodore W. Laetsch, Gavin P. Dunn, Tanner M. Johanns, Matthew Grimmer, Ivan Smirnov, Valérie Larouche, David Samuel, Annika Bronsema, Michael Osborn, Duncan Stearns, Pichai Raman, Kristina A. Cole, Phillip B. Storm, Michal Yalon, Enrico Opocher, Gary Mason, Gregory A. Thomas, Magnus Sabel, Ben George, David S. Ziegler, Scott Lindhorst, Vanan Magimairajan Issai, Shlomi Constantini, Helen Toledano, Ronit Elhasid, Roula Farah, Rina Dvir, Peter B. Dirks, Annie Huang, Melissa A. Galati, Jiil Chung, Vijay Ramaswamy, Meredith S. Irwin, Melyssa Aronson, Carol Durno, Michael D. Taylor, Gideon Rechavi, John M. Maris, Éric Bouffet, Cynthia Hawkins, J Costello, M. Stephen Meyn, Zachary F. Pursell, David Malkin, Uri Tabori, Adam Shlien

    Published 2017
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