Resultats de la cerca - Barbara Wappenschmidt

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  1. 1
    The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk

    The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk per Bernd Frank, Kari Hemminki, Michael Wirtenberger, Justo Lorenzo Bermejo, Peter Bugert, Rüdiger Klaes, Rita K. Schmutzler, Barbara Wappenschmidt, Claus R. Bartram, Barbara Burwinkel

    Publicat 2004
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  2. 2
    MLPA screening in the<i>BRCA1</i>gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

    MLPA screening in the<i>BRCA1</i>gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases per Stefanie Engert, Barbara Wappenschmidt, Beate Betz, Karin Kast, Michael Kutsche, Heide Hellebrand, Timm O. Goecke, Marion Kiechle, Dieter Niederacher, Rita K. Schmutzler, Alfons Meindl

    Publicat 2008
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  3. 3
    Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

    Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction per Barbara Wappenschmidt, Alexandra Becker, Jan Hauke, Weber Ute, Stefanie Engert, Juliane Köhler, Karin Kast, Norbert Arnold, Kerstin Rhiem, Eric Hahnen, Alfons Meindl, Rita K. Schmutzler

    Publicat 2012
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  4. 4
    Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk

    Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk per Bernd Frank, Justo Lorenzo Bermejo, Kari Hemminki, Christian Sutter, Barbara Wappenschmidt, Alfons Meindl, M. Kiechle-Bahat, Peter Bugert, Rita K. Schmutzler, Claus R. Bartram, Barbara Burwinkel

    Publicat 2007
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  5. 5
    Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer

    Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer per Heide Hellebrand, Christian Sutter, Ellen Honisch, Eva Groß, Barbara Wappenschmidt, Christian Schem, Helmut Deißler, Nina Ditsch, Verena Gress, Marion Kiechle, Claus R. Bartram, Rita K. Schmutzler, Dieter Niederacher, Norbert Arnold, Alfons Meindl

    Publicat 2011
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  6. 6
    ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

    ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence var... per Amanda B. Spurdle, Sue Healey, Andrew Devereau, Frans B.L. Hogervorst, Álvaro N.A. Monteiro, Katherine L. Nathanson, Paolo Radice, Dominique Stoppa‐Lyonnet, Sean V. Tavtigian, Barbara Wappenschmidt, Fergus J. Couch, David E. Goldgar

    Publicat 2011
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  7. 7
    A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women

    A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women per Sandrine Tchatchou, Anke Jung, Kari Hemminki, Christian Sutter, Barbara Wappenschmidt, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Nina Ditsch, Alfons Meindl, Rita K. Schmutzler, Claus R. Bartram, Barbara Burwinkel

    Publicat 2008
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  8. 8
    The association between breast cancer and S100P methylation in peripheral blood by multicenter case–control studies

    The association between breast cancer and S100P methylation in peripheral blood by multicenter case–control studies per Rongxi Yang, Sarah Stöcker, Sarah Schott, Jörg Heil, Frederik Marmé, Katarina Ćuk, Bowang Chen, Michael Golatta, Yan Zhou, Christian Sutter, Barbara Wappenschmidt, Rita K. Schmutzler, Peter Bugert, Bin Qu, Claus R. Bartram, Christof Sohn, Andreas Schneeweiß, Barbara Burwinkel

    Publicat 2017
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  9. 9
    Limited relevance of the <i>CHEK2</i> gene in hereditary breast cancer

    Limited relevance of the <i>CHEK2</i> gene in hereditary breast cancer per Michael R. Dufault, Beate Betz, Barbara Wappenschmidt, Wera Hofmann, Katrin Bandick, Astrid Golla, Andrea Pietschmann, C. Nestle-Krämling, Kerstin Rhiem, Christine Hüttner, Celia von Lindern, Peter Dall, Marion Kiechle, Michael Untch, W. Jonat, Alfons Meindl, Siegfried Scherneck, Dieter Niederacher, Rita K. Schmutzler, Norbert Arnold

    Publicat 2004
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  10. 10
    Evaluation of SNPs in<i>miR-146a</i>,<i>miR196a2</i>and<i>miR-499</i>as low-penetrance alleles in German and Italian familial breast cancer cases

    Evaluation of SNPs in<i>miR-146a</i>,<i>miR196a2</i>and<i>miR-499</i>as low-penetrance alleles in German and Italian familial breast cancer cases per Irene Catucci, Rongxi Yang, Paolo Verderio, Sara Pizzamiglio, Ludwig Heesen, Kari Hemminki, Christian Sutter, Barbara Wappenschmidt, Michèlle Dick, Norbert Arnold, Peter Bugert, Dieter Niederacher, Alfons Meindl, Rita K. Schmutzler, Claus C. Bartram, Filomena Ficarazzi, Laura Tizzoni, Daniela Zaffaroni, Siranoush Manoukian, Monica Barile, Marco A. Pierotti, Paolo Radice, Barbara Burwinkel, Paolo Peterlongo

    Publicat 2009
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  11. 11
    Association Between Loss-of-Function Mutations Within the <i>FANCM</i> Gene and Early-Onset Familial Breast Cancer

    Association Between Loss-of-Function Mutations Within the <i>FANCM</i> Gene and Early-Onset Familial Breast Cancer per Guido Neidhardt, Jan Hauke, Juliane Ramser, Eva Groß, Andrea Gehrig, Clemens R. Müller, Anne‐Karin Kahlert, Karl Hackmann, Ellen Honisch, Dieter Niederacher, Stefanie Heilmann‐Heimbach, André Franke, Wolfgang Lieb, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Kristina Klaschik, Corinna Ernst, Nina Ditsch, Frank Jessen, Alfredo Ramı́rez, Barbara Wappenschmidt, Christoph Engel, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Publicat 2016
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  12. 12
    Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

    Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history per Christoph Engel, Kerstin Rhiem, Eric Hahnen, Sibylle Loibl, Karsten E. Weber, Sabine Seiler, Silke Zachariae, Jan Hauke, Barbara Wappenschmidt, Anke Waha, Britta Blümcke, Marion Kiechle, Alfons Meindl, Dieter Niederacher, Claus R. Bartram, Dorothee Speiser, Brigitte Schlegelberger, Norbert Arnold, Peter Wieacker, Elena Leinert, Andrea Gehrig, Susanne Briest, Karin Kast, Olaf Rieß, Günter Emons, Bernhard H. F. Weber, Jutta Engel, Rita K. Schmutzler

    Publicat 2018
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  13. 13
    Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

    Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer per Nana Weber‐Lassalle, Julika Borde, Konstantin Weber‐Lassalle, Judit Horváth, Dieter Niederacher, Norbert Arnold, Silke Kaulfuß, Corinna Ernst, Victoria Paul, Ellen Honisch, Kristina Klaschik, Alexander E. Volk, Christian Kubisch, Steffen Rapp, Nadine Lichey, Janine Altmüller, Louisa Lepkes, Esther Pohl‐Rescigno, Hölger Thiele, Peter Nürnberg, Mirjam Larsen, Lisa Richters, Kerstin Rhiem, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen, Jan Hauke

    Publicat 2019
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  14. 14
    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium per Mara Colombo, Marinus J. Blok, Phillip J Whiley, Marta Santamariña, Sara Gutiérrez‐Enríquez, Atocha Romero, Pilar Garré, Alexandra Becker, Lindsay Smith, Giovanna De Vecchi, Rita D. Brandão, Demis Tserpelis, Melissa A. Brown, Ana Blanco, Sandra Bonache, Mireia Menéndez, Claude Houdayer, Claudia Foglia, James D. Fackenthal, Diana Baralle, Barbara Wappenschmidt, Eduardo Díaz‐Rubio, Trinidad Caldés, Logan C. Walker, Orland Dı́ez, Ana Vega, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

    Publicat 2014
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  15. 15
    Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples

    Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples per James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang, Gorka Ruíz de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha Ayoub, Kumar Lal, Olufunmilayo I. Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C. Walker, Irene López‐Perolio, Mads Thomassen, Michael T. Parsons, Phillip J Whiley, Marinus J. Blok, Rita D. Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez‐Enríquez, Orland Dı́ez, Conxi Lázaro, Amanda B. Spurdle, Paolo Radice, Miguel de la Hoya

    Publicat 2016
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  16. 16
    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort per Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, Chandran Ka, Yann Fichou, Marie‐Pierre Audrézet, Virginie Caux‐Moncoutier, Sandrine M. Caputo, Nadia Boutry‐Kryza, Mélanie Léoné, Sylvie Mazoyer, Françoise Bonnet‐Dorion, Nicolas Sévenet, Marine Guillaud-Bataille, Étienne Rouleau, Brigitte Bressac–de Paillerets, Barbara Wappenschmidt, Maria Rossing, Danielle Muller, Violaine Bourdon, Françoise Révillon, Michael T. Parsons, Antoine Rousselin, Grégoire Davy, G Castelain, Laurent Castéra, Joanna Sokołowska, Florence Coulet, Capucine Delnatte, Claude Férec, Amanda B. Spurdle, Alexandra Martins, Sophie Krieger, Claude Houdayer

    Publicat 2018
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  17. 17
    Prevalence of<i>BRCA1/2</i>germline mutations in 21 401 families with breast and ovarian cancer

    Prevalence of<i>BRCA1/2</i>germline mutations in 21 401 families with breast and ovarian cancer per Karin Kast, Kerstin Rhiem, Barbara Wappenschmidt, Eric Hahnen, Jan Hauke, Britta Bluemcke, V Zarghooni, N Herold, Nina Ditsch, Marion Kiechle, Michael Braun, Christine Fischer, Nicola Dikow, Sarah Schott, Nils Rahner, Dieter Niederacher, Tanja Fehm, Andrea Gehrig, Clemens Mueller-Reible, Norbert Arnold, Nicolaì Maass, Guntram Borck, Nikolaus de Gregorio, Caroline Scholz, Bernd Auber, Raymonda Varon-Manteeva, Dorothee Speiser, Judit Horváth, Nadine Lichey, Pauline Wimberger, Sylvia Stark, Ulrike Faust, Bernhard H. F. Weber, Günter Emons, Silke Zachariae, Alfons Meindl, Rita K. Schmutzler, Christoph Engel

    Publicat 2016
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  18. 18
    BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

    BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer per Nana Weber‐Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Britta Blümcke, Andrea Gehrig, Anne-Karin Kahlert, Clemens R. Müller, Karl Hackmann, Ellen Honisch, Konstantin Weber‐Lassalle, Dieter Niederacher, Julika Borde, Hölger Thiele, Corinna Ernst, Janine Altmüller, Guido Neidhardt, Peter Nürnberg, Kristina Klaschik, Christopher Schroeder, Konrad Platzer, Alexander E. Volk, Shan Wang‐Gohrke, Walter Just, Bernd Auber, Christian Kubisch, Gunnar Schmidt, Judit Horváth, Barbara Wappenschmidt, Christoph Engel, Norbert Arnold, Bernd Dworniczak, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Publicat 2018
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  19. 19
    Breast cancer risk in <i>BRCA1/2</i> mutation carriers and noncarriers under prospective intensified surveillance

    Breast cancer risk in <i>BRCA1/2</i> mutation carriers and noncarriers under prospective intensified surveillance per Christoph Engel, Christine Fischer, Silke Zachariae, Karolin Bucksch, Kerstin Rhiem, J Giesecke, N Herold, Barbara Wappenschmidt, Verena Hübbel, Monika Maringa, S Reichstein-Gnielinski, Eric Hahnen, Claus R. Bartram, Nicola Dikow, Sarah Schott, Dorothee Speiser, Denise Horn, Eva Maria Fallenberg, Marion Kiechle, Anne S. Quante, Anne‐Sophie Vesper, Tanja Fehm, Christoph Mundhenke, Norbert Arnold, Elena Leinert, Walter Just, Ulrike Siebers‐Renelt, Stefanie Weigel, Andrea Gehrig, Achim Wöckel, Brigitte Schlegelberger, Stefanie Pertschy, Karin Kast, Pauline Wimberger, Susanne Briest, Markus Loeffler, Ulrich Bick, Rita K. Schmutzler

    Publicat 2019
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  20. 20
    BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

    BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk per Amanda B. Spurdle, Phillip J Whiley, Bryony A. Thompson, Bing Feng, Sue Healey, Melissa A. Brown, Christopher A. Pettigrew, Christi J. van Asperen, Margreet G.E.M. Ausems, A.A. Kattentidt-Mouravieva, Ans M.W. van den Ouweland, Dutch Belgium UV Consortium, Annika Lindblom, Maritta Hellström Pigg, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Sandrine M. Caputo, Olga M. Sinilnikova, Rosette Lidereau, Fergus J. Couch, Lucia Guidugli, Thomas van Overeem Hansen, Mads Thomassen, Diana Eccles, Kathy Tucker, Javier Benı́tez, Susan M. Domchek, Amanda E. Toland, Elizabeth J. van Rensburg, Barbara Wappenschmidt, Åke Borg, Maaike P.G. Vreeswijk, David E. Goldgar

    Publicat 2012
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