Výsledky vyhledávání - Huw Dorkins

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  1. 1
    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects Autor Jillian P. Casey, Kieran Brennan, Noémie Scheidel, Paul McGettigan, Paul TM Lavin, Stephen P. Carter, Sean Ennis, Huw Dorkins, Neeti Ghali, Oliver E. Blacque, Margaret M. Mc Gee, Helen Murphy, Sally Ann Lynch

    Vydáno 2016
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  2. 2
    Randomised trial of population‐based <i><scp>BRCA</scp></i> testing in Ashkenazi Jews: long‐term outcomes

    Randomised trial of population‐based <i><scp>BRCA</scp></i> testing in Ashkenazi Jews: long‐term outcomes Autor Ranjit Manchanda, Matthew Burnell, Faiza Gaba, Roopal Desai, Jane Wardle, Sue Gessler, Lucy Side, Saskia C. Sanderson, K Loggenberg, AF Brady, Huw Dorkins, Yvonne Wallis, C J Chapman, Chris Jacobs, Rosa Legood, Uziel Beller, Ian Tomlinson, Usha Menon, Ian Jacobs

    Vydáno 2019
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  3. 3
    Population Testing for Cancer Predisposing BRCA1/BRCA2 Mutations in the Ashkenazi-Jewish Community: A Randomized Controlled Trial

    Population Testing for Cancer Predisposing BRCA1/BRCA2 Mutations in the Ashkenazi-Jewish Community: A Randomized Controlled Trial Autor Ranjit Manchanda, K Loggenberg, Saskia C. Sanderson, Matthew Burnell, Jane Wardle, Sue Gessler, Lucy Side, Nyala Balogun, Rakshit Desai, Ajith Kumar, Huw Dorkins, Yvonne Wallis, Cyril Chapman, Rohan Taylor, Chris Jacobs, Ian Tomlinson, Alistair McGuire, Uziel Beller, Usha Menon, Ian Jacobs

    Vydáno 2014
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  4. 4
    Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History–Based Testing

    Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History–Based Testing Autor Ranjit Manchanda, Rosa Legood, Matthew Burnell, Alistair McGuire, Maria Raikou, K Loggenberg, Jane Wardle, Saskia C. Sanderson, Sue Gessler, Lucy Side, Nyala Balogun, Rakshit Desai, Ajith Kumar, Huw Dorkins, Yvonne Wallis, Cyril Chapman, Rohan Taylor, Chris Jacobs, Ian Tomlinson, Uziel Beller, Usha Menon, Ian Jacobs

    Vydáno 2014
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  5. 5
    Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations

    Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations Autor Ranjit Manchanda, Matthew Burnell, K Loggenberg, Rakshit Desai, Jane Wardle, Saskia C. Sanderson, Sue Gessler, Lucy Side, Nyala Balogun, Ajith Kumar, Huw Dorkins, Yvonne Wallis, Cyril Chapman, Ian Tomlinson, Rohan Taylor, Chris Jacobs, Rosa Legood, Maria Raikou, Alistair McGuire, Uziel Beller, Usha Menon, Ian Jacobs

    Vydáno 2016
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  6. 6
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals Autor Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    Vydáno 2019
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  7. 7
    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE Autor Nasim Mavaddat, Susan Peock, Debra Frost, Ian O. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Louise Izatt, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Shirley Hodgson, Lisa Walker, Mary Porteous, Patrick J. Morrison, Lucy Side, Michael J. Kennedy, Catherine Houghton, Alan Donaldson, Mark T. Rogers, Huw Dorkins, Zosia Miedzybrodzka, Helen Gregory, Jacqueline Eason, Julian Barwell, Emma McCann, Alex Murray, Antonis C. Antoniou, Douglas F. Easton

    Vydáno 2013
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  8. 8
    Germline <i>BRCA</i> Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer

    Germline <i>BRCA</i> Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer Autor Elena Castro, Chee Goh, David Olmos, Edward J. Saunders, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Nadiya Mahmud, Tokhir Dadaev, Koveela Govindasami, Michelle Guy, Emma Sawyer, Rosemary Wilkinson, Audrey Ardern‐Jones, Ian O. Ellis, Debra Frost, Susan Peock, D. Gareth Evans, Marc Tischkowitz, Trevor Cole, Rosemarie Davidson, Diana Eccles, Carole Brewer, Fiona Douglas, Mary Porteous, Alan Donaldson, Huw Dorkins, Louise Izatt, Jackie Cook, Shirley Hodgson, Michael J. Kennedy, Lucy Side, Jacqueline Eason, Alex Murray, Antonis C. Antoniou, Douglas F. Easton, Zsofia Kote‐Jarai, Rosalind A. Eeles

    Vydáno 2013
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  9. 9
    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine

    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine Autor Hayley C. Whitaker, Zsofia Kote‐Jarai, Helen Ross‐Adams, Anne Y. Warren, Johanna Burge, Anne George, Elizabeth Bancroft, Sameer Jhavar, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Edward J. Saunders, Elizabeth Page, Anita Mitra, Gillian Mitchell, Geoffrey J. Lindeman, D. Gareth Evans, Ignacio Blanco, Catherine Mercer, Wendy S. Rubinstein, Virginia Clowes, Fiona Douglas, Shirley Hodgson, Lisa Walker, Alan Donaldson, Louise Izatt, Huw Dorkins, Alison Male, Kathy Tucker, Alan M. F. Stapleton, Jimmy Lam, Judy Kirk, Hans Lilja, Douglas F. Easton, Colin Cooper, Rosalind A. Eeles, David E. Neal

    Vydáno 2010
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  10. 10
    Modification of <i>BRCA1</i>-Associated Breast and Ovarian Cancer Risk by <i>BRCA1</i>-Interacting Genes

    Modification of <i>BRCA1</i>-Associated Breast and Ovarian Cancer Risk by <i>BRCA1</i>-Interacting Genes Autor Timothy R. Rebbeck, Nandita Mitra, Susan M. Domchek, Fei Wan, Tara M. Friebel, Teo Tran, Christian F. Singer, Muy‐Kheng M. Tea, Joanne L. Blum, Nadine Tung, Olufunmilayo I. Olopade, Jeffrey N. Weitzel, Henry T. Lynch, Carrie Snyder, Judy E. Garber, Antonis C. Antoniou, Susan Peock, D. Gareth Evans, Joan Paterson, Maura Kennedy, Alan Donaldson, Huw Dorkins, Douglas F. Easton, Wendy S. Rubinstein, Mary B. Daly, Claudine Isaacs, Heli Nevanlinna, Fergus J. Couch, Irene L. Andrulis, Eitan Freidman, Yael Laitman, Patricia A. Ganz, Gail E. Tomlinson, Susan L. Neuhausen, Steven A. Narod, Catherine M. Phelan, Roger A. Greenberg, Katherine L. Nathanson

    Vydáno 2011
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  11. 11
    Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation

    Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation Autor Patrick Tarpey, Claire Stevens, Jon W. Teague, Sarah Edkins, Sarah O’Meara, Tim Avis, Syd Barthorpe, Gemma Buck, Adam Butler, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Sofie West, Sara Widaa, Andrew Yates, Rachael Catford, Julia Butler, Uma Mallya, Jenny Moon, Ying Luo, Huw Dorkins, Deborah J. Thompson, Douglas F. Easton, Richard Wooster, Martin Bobrow, Nancy J. Carpenter, Richard J. Simensen, Charles E. Schwartz, Roger E. Stevenson, Gillian Turner, M. W. Partington, Jozef Gécz, Michael R. Stratton, P. Andrew Futreal, F. Lucy Raymond

    Vydáno 2006
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  12. 12
    Targeted prostate cancer screening in men with mutations in <i>BRCA1</i> and <i>BRCA2</i> detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

    Targeted prostate cancer screening in men with mutations in <i>BRCA1</i> and <i>BRCA2</i> detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT stud... Autor Anita Mitra, Elizabeth Bancroft, Yolanda Barbáchano, Elizabeth Page, Christopher S. Foster, Charles Jameson, Gillian Mitchell, Geoffrey J. Lindeman, Andrew J. Stapleton, Graeme Suthers, D. Gareth Evans, D. G. Crüger, Ignacio Blanco, Catherine Mercer, Judy Kirk, Lovise Mæhle, Shirley Hodgson, Lyndon Walker, Louise Izatt, Gillian Douglas, Katherine Tucker, Huw Dorkins, Virginia Clowes, Alison Male, Alan Donaldson, C Brewer, Rebecca Doherty, Barbara Bulman, Palle Jørn Sloth Osther, Mónica Salinas, Diana Eccles, Karol Axcrona, Irene Jobson, Barbara Newcombe, Cezary Cybulski, Wendy S. Rubinstein, Saundra S. Buys, Sharron Townshend, Eitan Friedman, Susan M. Domchek, Teresa Ramón y Cajal, Allan D. Spigelman, Soo‐Hwang Teo, Nicola Nicolai, Neil K. Aaronson, Audrey Ardern‐Jones, Chris Bangma, David Dearnaley, Jórunn E. Eyfjörd, Alison Falconer, Henrik Grönberg, Freddie C. Hamdy, Óskar Þór Jóhannsson, Vincent Khoo, Zsofia Kote‐Jarai, Hans Lilja, Jan Lubiński, J Melia, Clare Moynihan, S. Peock, Gad Rennert, Fritz H. Schröder, Paul Sibley, Mohnish Suri, Penny Wilson, Y. J. Bignon, Sara S. Strom, Marc Tischkowitz, Annelie Liljegren, Denisa Ilenčíková, A. Abele, Kyriacos Kyriacou, Christi J. van Asperen, Lambertus A. Kiemeney, Douglas F. Easton, Rosalind A. Eeles

    Vydáno 2010
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  13. 13
    RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

    RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies Autor Antonis C. Antoniou, Olga M. Sinilnikova, Jacques Simard, Mélanie Léoné, Martine Dumont, Susan L. Neuhausen, Jeffery P. Struewing, Dominique Stoppa‐Lyonnet, Laure Barjhoux, David J. Hughes, Isabelle Coupier, Muriel Belotti, Christine Lasset, Valérie Bonadona, Yves-Jean Bignon, Timothy R. Rebbeck, Theresa Wagner, Henry T. Lynch, Susan M. Domchek, Katherine L. Nathanson, Judy E. Garber, Jeffrey N. Weitzel, Steven A. Narod, Gail E. Tomlinson, Olufunmilayo I. Olopade, Andrew K. Godwin, Claudine Isaacs, Anna Jakubowska, Jan Lubiński, Jacek Gronwald, Bohdan Górski, Tomasz Byrski, Tomasz Huzarski, Susan Peock, Margaret Cook, Caroline Baynes, Alexandra Murray, Mrs Clare Rogers, Peter A. Daly, Huw Dorkins, Rita K. Schmutzler, Beatrix Versmold, Christoph Engel, Alfons Meindl, Norbert Arnold, Dieter Niederacher, Helmut Deissler, Amanda B. Spurdle, Xiaohong Chen, Nicola Waddell, Nicole Cloonan, Tomas Kirchhoff, Kenneth Offit, Eitan Friedman, Bella Kaufmann, Yael Laitman, Gilli Galore, Gad Rennert, Flavio Lejbkowicz, Leon Raskin, Irene L. Andrulis, Eduard Ilyushik, Hilmi Özçelik, Peter Devilee, Maaike P.G. Vreeswijk, Mark H. Greene, Sheila A. Prindiville, Ana Osório, Javier Benítez, Michal Zikán, Csilla I. Szabo, Outi Kilpivaara, Heli Nevanlinna, Ute Hamann, Francine Durocher, Aðalgeir Arason, Fergus J. Couch, Douglas F. Easton, Georgia Chenevix‐Trench

    Vydáno 2007
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  14. 14
    Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction

    Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Implications for Risk Prediction Autor Antonis C. Antoniou, Jonathan Beesley, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Susan L. Neuhausen, Yuan Chun Ding, Timothy R. Rebbeck, Jeffrey N. Weitzel, Henry T. Lynch, Claudine Isaacs, Patricia A. Ganz, Gail E. Tomlinson, Olufunmilayo I. Olopade, Fergus J. Couch, Xianshu Wang, Noralane M. Lindor, V. Shane Pankratz, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Monica Barile, Alessandra Viel, Anna Allavena, Valentina Dall’Olio, Paolo Peterlongo, Csilla I. Szabo, Michal Zikán, Kathleen Claes, Bruce Poppe, Lenka Foretová, L. Phuong, Mark H. Greene, Gad Rennert, Flavio Lejbkowicz, Gord Glendon, Hilmi Özçelik, Irene L. Andrulis, Mads Thomassen, Anne‐Marie Gerdes, Lone Sunde, Dorthe Gylling Crüger, Uffe Birk Jensen, Maria A. Caligo, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Maya Dubrovsky, Shimrit Cohen, Åke Borg, Helena Jernström, Annika Lindblom, Johanna Rantala, Marie Stenmark-Askmalm, Beatrice Melin, Katherine L. Nathanson, Susan M. Domchek, Anna Jakubowska, Jan Lubiński, Tomasz Huzarski, Ana Osório, Adriana Lasa, M. Durán, María‐Isabel Tejada, Javier Godino, Javier Benı́tez, Ute Hamann, Mieke Kriege, Nicoline Hoogerbrugge, Rob B. van der Luijt, Christi J. van Asperen, Peter Devilee, E.J. Meijers-Heijboer, Marinus J. Blok, Cora M. Aalfs, Frans B.L. Hogervorst, Matti A. Rookus, Margaret Cook, Clare Oliver, Debra Frost, Don Conroy, D. Gareth Evans, Fiona Lalloo, Gabriella Pichert, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Shirley Hodgson, Patrick J. Morrison, Mary Porteous, Lisa Walker, Michael J. Kennedy, Huw Dorkins, Susan Peock, Andrew K. Godwin, Dominique Stoppa‐Lyonnet, Antoine De Pauw

    Vydáno 2010
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  15. 15
    Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

    Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers Autor Antonis C. Antoniou, Karoline Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaohong Chen, Lesley McGuffog, Andrew Lee, Daniel Barrowdale, Sue Healey, Olga M. Sinilnikova, Maria A. Caligo, Niklas Loman, Katja Harbst, Annika Lindblom, Brita Arver, Richard Rosenquist, Per Karlsson, Katherine L. Nathanson, Susan M. Domchek, Tim Rebbeck, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowowcka-Perłowska, Ana Osório, M. Durán, Raquel Andrés, Javier Benı́tez, Ute Hamann, Frans B.L. Hogervorst, Theo A. van Os, Senno Verhoef, Hanne Meijers‐Heijboer, Juul Wijnen, E. Gómez, Marjolijn J. L. Ligtenberg, Mieke Kriege, J. Margriet Collée, Margreet G.E.M. Ausems, Jan C. Oosterwijk, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Fiona Lalloo, Chris Jacobs, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Lisa Walker, Mark T. Rogers, Alan Donaldson, Huw Dorkins, Andrew K. Godwin, Betsy Bove, Dominique Stoppa‐Lyonnet, Claude Houdayer, Bruno Buecher, Antoine De Pauw, Sylvie Mazoyer, Alain Calender, Mélanie Léoné, Brigitte Bressac–de Paillerets, Olivier Caron, Hagay Sobol, Marc Frénay, Fabienne Prieur, Sandra Fert Ferrer, Isabelle Mortemousque, Saundra S. Buys, Mary B. Daly, Alexander Miron, Mary Beth Terry, John L. Hopper, Esther M. John, Melissa C. Southey, David E. Goldgar, Christian F. Singer, A. Fink-Retter, Muy‐Kheng Tea, Daphne Geschwantler Kaulich, Thomas van Overeem Hansen, Finn C. Nielsen, Rósa B. Barkardóttir, Mia M. Gaudet, Tomas Kirchhoff, Joseph Vijai, Ana Dutra-Clarke, Kenneth Offit, Marion Piedmonte

    Vydáno 2012
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  16. 16
    Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

    Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of B... Autor Anna Marie Mulligan, Fergus J. Couch, Daniel Barrowdale, Susan M. Domchek, Diana Eccles, Heli Nevanlinna, Susan J. Ramus, Mark E. Robson, Mark E. Sherman, Amanda B. Spurdle, Barbara Wappenschmidt, Andrew Lee, Lesley McGuffog, Sue Healey, Olga M. Sinilnikova, Ramūnas Janavičius, Thomas van Overeem Hansen, Finn C. Nielsen, Bent Ejlertsen, Ana Osório, Iván Muñoz‐Repeto, M. Durán, Javier Godino, Maroulio Pertesi, Javier Benítez, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Elisa Cattaneo, Bernardo Bonanni, Alessandra Viel, Barbara Pasini, Laura Papi, Laura Ottini, Antonella Savarese, Loris Bernard, Paolo Radice, Ute Hamann, Martijn Verheus, Hanne Meijers‐Heijboer, Juul Wijnen, E. Gómez, Marcel Nelen, C. Marleen Kets, Caroline Seynaeve, Madeleine M.A. Tilanus‐Linthorst, Rob B. van der Luijt, Theo van Os, Matti A. Rookus, Debra Frost, J. Louise Jones, D. Gareth Evans, Fiona Lalloo, Rosalind A. Eeles, Louise Izatt, Julian Adlard, Rosemarie Davidson, Jackie Cook, Alan Donaldson, Huw Dorkins, Helen Gregory, Jacqueline Eason, Catherine Houghton, Julian Barwell, Lucy Side, Emma McCann, Alex Murray, Susan Peock, Andrew K. Godwin, Rita K. Schmutzler, Kerstin Rhiem, Christoph Engel, Alfons Meindl, I. Ruehl, Norbert Arnold, Dieter Niederacher, Christian Sutter, Helmut Deißler, Dorothea Gadzicki, Karin Kast, Sabine Preisler-Adams, Raymonda Varon-Mateeva, Ines Schoenbuchner, Britta Fiebig, Wolfram Heinritz, Dieter Schäfer, Heidrun Gevensleben, Virginie Caux‐Moncoutier, Marion Fassy-Colcombet, François Cornélis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry‐Kryza, Agnès Hardouin, Pascaline Berthet, Danièle Muller, Jean‐Pierre Fricker, Isabelle Mortemousque, Pascal Pujol

    Vydáno 2011
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