检索结果 - Lisa Golmard

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  1. 1
    The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

    The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome 由 Michael Frank, Juliette Albuisson, Brigitte Ranque, Lisa Golmard, Jean‐Michaël Mazzella, Laurence Bal-Theoleyre, Anne-Laure Fauret, Tristan Mirault, Nicolas Denarié, Élie Mousseaux, Pierre Boutouyrie, Jean‐Noël Fiessinger, Joseph Emmerich, Emmanuel Messas, Xavier Jeunemaı̂tre

    出版 2015
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  2. 2
    Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

    Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model 由 Julien Tarabeux, Bruno Zeitouni, Virginie Moncoutier, Henrique Tenreiro, Khadija Abidallah, Séverine Lair, Patricia Legoix-Né, Quentin Leroy, Étienne Rouleau, Lisa Golmard, Emmanuel Barillot, Marc‐Henri Stern, Thomas Rio Frio, Dominique Stoppa‐Lyonnet, Claude Houdayer

    出版 2013
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  3. 3
    Germline mutation in the RAD51B gene confers predisposition to breast cancer

    Germline mutation in the RAD51B gene confers predisposition to breast cancer 由 Lisa Golmard, Virginie Caux‐Moncoutier, Grégoire Davy, Essam Al Ageeli, Brigitte Poirot, Carole Tirapo, Dorothée Michaux, Catherine Barbaroux, Catherine Dubois d’Enghien, Nicolás André, Laurent Castéra, Xavier Sastre‐Garau, Marc‐Henri Stern, Claude Houdayer, Dominique Stoppa‐Lyonnet

    出版 2013
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  4. 4
    Adaptive nanopore sequencing to determine pathogenicity of<i>BRCA1</i>exonic duplication

    Adaptive nanopore sequencing to determine pathogenicity of<i>BRCA1</i>exonic duplication 由 Mathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie‐Charlotte Villy, Antoine Decees, Éléonore Frouin, Elodie Girard, Sandrine M. Caputo, Victor Renault, Véronique Becette, Lisa Golmard, Nicolas Servant, Dominique Stoppa‐Lyonnet, Olivier Delattre, Chrystelle Colas, Julien Masliah‐Planchon

    出版 2023
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  5. 5
    Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

    Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers 由 Lisa Golmard, Laurent Castéra, Sophie Krieger, Virginie Moncoutier, Khadija Abidallah, Henrique Tenreiro, Anthony Laugé, Julien Tarabeux, Gaël A. Millot, Nicolás André, Marick Laé, Caroline Abadie, Pascaline Berthet, Florence Polycarpe, Thierry Frébourg, Camille Elan, Antoine De Pauw, Marion Gauthier‐Villars, Bruno Buecher, Marc‐Henri Stern, Dominique Stoppa‐Lyonnet, Dominique Vaur, Claude Houdayer

    出版 2017
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  6. 6
    ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors

    ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors 由 Emmanuelle Uro‐Coste, Julien Masliah‐Planchon, Aurore Siegfried, Maud Blanluet, Sander Lambo, Marcel Kool, Thomas Roujeau, S. Boetto, Gilles Palenzuela, Anne‐Isabelle Bertozzi, Marion Gambart, Isabelle Coupier, Isabelle Oliver‐Petit, Lisa Golmard, Sophie Julia, Frédérique Savagner, Badreddine Mohand Oumoussa, Arnault Tauziède‐Espariat, Marie‐Bernadette Delisle, Dominique Figarella‐Branger, Franck Bourdeaut, Valérie Rigau

    出版 2018
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  7. 7
    Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer

    Location of Mutation in <i>BRCA2</i> Gene and Survival in Patients with Ovarian Cancer 由 Sana Intidhar Labidi‐Galy, Timothée Olivier, Manuel Rodrigues, Domenico Ferraioli, Olfa Derbel, Alexandre Bodmer, Patrick Petignat, Beata Rak, Nicolás Chopin, Olivier Trédan, Pierre-Étienne Heudel, Sarah Stückelberger, Pierre Méeus, Patrick Meraldi, Valeria Viassolo, Aurélie Ayme, Pierre O. Chappuis, Marc‐Henri Stern, Claude Houdayer, Dominique Stoppa‐Lyonnet, Adrien Buisson, Lisa Golmard, Valérie Bonadona, Isabelle Ray‐Coquard

    出版 2017
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  8. 8
    Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

    Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations 由 Lisa Golmard, Capucine Delnatte, Anthony Laugé, Virginie Moncoutier, Cédrick Lefol, Khadija Abidallah, Henrique Tenreiro, F Copigny, Mathieu Giraudeau, Christophe Guy, Catherine Barbaroux, Gisele Cardoso de Amorim, Adrien Briaux, V. Guibert, Julien Tarabeux, Sandrine M. Caputo, Agnès Collet, Paul Gesta, Olivier Ingster, Marc‐Henri Stern, Étienne Rouleau, Antoine De Pauw, Marion Gauthier‐Villars, Bruno Buecher, Stéphane Bézieau, Dominique Stoppa‐Lyonnet, Claude Houdayer

    出版 2015
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  9. 9
    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group 由 Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn C.J. Jongmans, Beate B. Dörgeloh, Roula Farah, Stavros Glentis, Lisa Golmard, Juliane Hoyer, Kirsi Jahnukainen, Rosalyn Jewell, Axel Karow, K. Katsibardi, Michaela Kuhlen, Andrea Meinhardt, Karolina Nemes, Anna Poluha, Tim Ripperger, Nicolas Waespe, Julian Adlard, Munaza Ahmed, Bernadette Brennan, Tabib Dabir, D. Gareth Evans, Anna Kelsey, Kelly Kohut, A. Kulkarni, Alex Murray, Kai Ren Ong, Anthony Penn, Thomas Semple, Emma R. Woodward, Rachel S. van Leeuwaarde, Annemieke S. Littooij, Johannes H. M. Merks, Åse Krogh Rasmussen, Hanneke M. van Santen, Stephanie E. Smetsers

    出版 2021
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  10. 10
    Germline pathogenic DROSHA variants are linked to pineoblastoma and Wilms tumor predisposition

    Germline pathogenic DROSHA variants are linked to pineoblastoma and Wilms tumor predisposition 由 Peter N. Fiorica, Lisa Golmard, Jung Kim, Riyue Bao, Frank Y. Lin, Angshumoy Roy, Allison Pribnow, Melissa R. Perrino, Julien Masliah‐Planchon, Sophie Michalak-Provost, Jennifer Wong, Mathilde Filser, Dominique Stoppa‐Lyonnet, Franck Bourdeaut, Afane Brahimi, Olivier Ingster, Giselle L. Saulnier Sholler, Sarah A. Jackson, M.S. Sasaki, Trent Fowler, Anita Ng, Ryan J. Corbett, Rebecca Kaufman, Jeremy S. Haley, David J. Carey, Kuan‐lin Huang, Sharon J. Diskin, Jo Lynne Rokita, Hussam Al‐Kateb, Rose B. McGee, Joshua D. Schiffman, Kenneth Chen, Douglas R. Stewart, D. Williams Parsons, Sharon E. Plon, Kris Ann P. Schultz, Kenan Onel

    出版 2025
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  11. 11
    2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022

    2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022 由 Sarah Kane, Nikita Mehta, Yelena Kemel, Vignesh Ravichandran, Ryan Ptashkin, Anna Maio, Amanda Catchings, Dina Green, Megha Ranganathan, Erin Mullen, Diana Mandelker, Zsofia K. Stadler, Alicia Latham, J. N. Cooper, Sarah McGee, Lauren Bokovitz, Sudipto Mukherjee, David Liska, James S. Blachly, Hetty E. Carraway, Harry Lesmana, Brittany Griffin, Giulia Martina Cavestro, Marta Puzzono, Alessandro Mannucci, Simone Grannò, Laura Poliani, Luca Albarello, Silvana Lobo, Patrick R. Benusiglio, Florence Coulet, Lise Boussemart, Lisa Golmard, Isabel Spier, Robert Hu ̈neburg, Stefan Aretz, Liselotte van Hest, Judith Balmañ, Sigrid Tinschert, Bryson W. Katona, Melyssa Aronson, Augusto Antoniazzi, Carolyn Horton, Rachid Karam, Leticia Moreira, Jolanda van Dieren, Chrystelle Colas, Paulo S. Pereira, Carla Oliveíra

    出版 2023
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  12. 12
    A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

    A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression 由 Jing Liu, Daniela Ottaviani, Meriem Sefta, Céline Desbrousses, Elodie Chapeaublanc, Rosario Aschero, Nanor Sirab, Fabiana Lubieniecki, Gabriela Lamas, Laurie Tonon, Catherine Dehainault, Clément Hua, Paul Fréneaux, Sacha Reichman, Narjesse Karboul, Anne Biton, Liliana Mirabal-Ortega, Magalie Larcher, Céline Brulard, Sandrine Arrufat, Nicolás André, Nabila Elarouci, Tatiana Popova, Fariba Némati, Didier Decaudin, David Gentien, Sylvain Baulande, Odette Mariani, Florent Dufour, Sylvain Guibert, Céline Vallot, Livia Lumbroso‐Le Rouic, Alexandre Matet, Laurence Desjardins, Guillem Pascual‐Pasto, Mariona Suñol, Jaume Mora, Genoveva Correa Llano, Jérôme Couturier, Emmanuel Barillot, Paula Schaiquevich, Marion Gauthier‐Villars, Dominique Stoppa‐Lyonnet, Lisa Golmard, Claude Houdayer, Hervé J. Brisse, Isabelle Bernard‐Pierrot, Éric Letouzé, Alain Viari, Simon Saule, Xavier Sastre‐Garau, François Doz, Ángel M. Carcaboso, Nathalie Cassoux, Célio Pouponnot, Olivier Goureau, Guillermo Chantada, Aurélien de Reyniès, Isabelle Aerts, François Radvanyi

    出版 2021
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  13. 13
    Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>

    Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i> 由 Xin Yang, Honglin Song, Goska Leslie, Christoph Engel, Eric Hahnen, Bernd Auber, Judit Horváth, Karin Kast, Dieter Niederacher, Clare Turnbull, Richard S. Houlston, Helen Hanson, Chey Loveday, Jill S. Dolinsky, Holly LaDuca, Susan J. Ramus, Usha Menon, Adam N. Rosenthal, Ian Jacobs, Simon A. Gayther, Ed Dicks, Heli Nevanlinna, Kristiina Aittomäki, Liisa M. Pelttari, Hans Ehrencrona, Åke Borg, Anders Kvist, Bárbara Rivera, Thomas van Overeem Hansen, Malene Djursby, Andrew Lee, Joe Dennis, David D.L. Bowtell, Nadia Traficante, Orland Dı́ez, Judith Balmañà, Stephen B. Gruber, Georgia Chenevix‐Trench, kConFab Investigators, Allan Jensen, Susanne K. Kjær, Estrid Høgdall, Laurent Castéra, Judy E. Garber, Ramūnas Janavičius, Ana Osório, Lisa Golmard, Ana Vega, Fergus J. Couch, Mark E. Robson, Jacek Gronwald, Susan M. Domchek, Julie O. Culver, Miguel de la Hoya, Douglas F. Easton, William D. Foulkes, Marc Tischkowitz, Alfons Meindl, Rita K. Schmutzler, Paul D.P. Pharoah, Antonis C. Antoniou

    出版 2020
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  14. 14
    Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide

    Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide 由 Sebastian Walpole, Antonia L. Pritchard, Colleen M. Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H. Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa‐Lyonnet, Erin M. Garfield, Ching-Ni Jenny Njauw, Mitchell Cheung, Joni A. Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J. Jager, Gregorius P. M. Luyten, Marina Marinkovic, Cindy Chau, Míriam Potrony, Veronica Höiom, Hildur Helgadóttir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R. Speicher, Natasha van Poppelen, Emine Kılıç, Rana’a T. Al‐Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J. O’Shea, Julia Newton‐Bishop, Julian Adlard, David J. Adams, Anne-Marie Lane, Ivana K. Kim, Sonja Klebe, Hilary Racher, J. William Harbour, Michael L. Nickerson, Rajmohan Murali, Jane M. Palmer, Madeleine Howlie, Judith Symmons, Hayley R. Hamilton, Sunil Warrier, William Glasson, Peter A. Johansson, Carla Daniela Robles‐Espinoza, Raúl Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero Kivelä, Hensin Tsao, Joseph R. Testa, Pedram Gerami, Marc‐Henri Stern, Brigitte Bressac–de Paillerets, Mohamed H. Abdel‐Rahman, Nicholas K. Hayward

    出版 2018
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  15. 15
    Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families

    Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families 由 Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M. Dunning, James Redman, James A. Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen A. Pooley, Leila Dorling, Andrew Lee, Muriel A. Adank, Julian Adlard, Kristiina Aittomäki, Irene L. Andrulis, Peter Ang, Julian Barwell, Jonine L. Bernstein, Kristie Bobolis, Åke Borg, Carl Blomqvist, Kathleen Claes, Patrick Concannon, Adeline Cuggia, Julie O. Culver, Francesca Damiola, Antoine De Pauw, Orland Dı́ez, Jill S. Dolinsky, Susan M. Domchek, Christoph Engel, D. Gareth Evans, Florentia Fostira, Judy E. Garber, Lisa Golmard, Ellen L. Goode, Stephen B. Gruber, Eric Hahnen, Christopher R. Hake, Tuomas Heikkinen, Judith Hurley, Ramūnas Janavičius, Zdeněk Kleibl, Petra Kleiblová, Irene Konstantopoulou, Anders Kvist, Holly LaDuca, Ann S. G. Lee, Fabienne Lesueur, Eamonn R. Maher, Graham J. Mann, Siranoush Manoukian, Rachel McFarland, Wendy McKinnon, Alfons Meindl, Kelly Metcalfe, Nur Aishah Mohd Taib, Jukka S. Moilanen, Katherine L. Nathanson, Susan L. Neuhausen, Pei Sze Ng, Tú Nguyen‐Dumont, Sarah M. Nielsen, Florian Obermair, Kenneth Offit, Olufunmilayo I. Olopade, Laura Ottini, Judith Penkert, Katri Pylkäs, Paolo Radice, Susan J. Ramus, Vilius Rudaitis, Lucy Side, Rachel Silva‐Smith, Valentina Silvestri, Anne‐Bine Skytte, Thomas Slavin, Jana Soukupová, Carlo Tondini, Alison H. Trainer, Gary Unzeitig, Lydia Usha, Thomas van Overeem Hansen, James Whitworth, Marie Wood, Cheng Har Yip, Sook‐Yee Yoon, Amal Yussuf, George Zogopoulos, David E. Goldgar, John L. Hopper, Georgia Chenevix‐Trench, Paul D.P. Pharoah, Sophia George, Judith Balmañà, Claude Houdayer

    出版 2019
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  16. 16
    Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants

    Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants 由 Shuai Li, Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper, Henriette Roed Nielsen, Andrew Lee, Xin Yang, Lesley McGuffog, Michael T. Parsons, Irene L. Andrulis, Norbert Arnold, Muriel Belotti, Åke Borg, Bruno Buecher, Saundra S. Buys, Sandrine M. Caputo, Wendy K. Chung, Chrystelle Colas, Sarah V. Colonna, Jackie Cook, Mary B. Daly, Miguel de la Hoya, Antoine De Pauw, Hélène Delhomelle, Jacqueline Eason, Christoph Engel, D. Gareth Evans, Ulrike Faust, Tanja Fehm, Florentia Fostira, George Fountzilas, Megan N. Frone, Vanesa Garcı́a, Pilar Garré, Marion Gauthier‐Villars, Andrea Gehrig, Gord Glendon, David E. Goldgar, Lisa Golmard, Mark H. Greene, Eric Hahnen, Ute Hamann, Helen Hanson, Tiara Hassan, Julia Hentschel, Judit Horváth, Louise Izatt, Ramūnas Janavičius, Yue Jiao, Esther M. John, Beth Y. Karlan, Sung-Won Kim, Irene Konstantopoulou, Ava Kwong, Anthony Laugé, Jong Won Lee, Fabienne Lesueur, Noura Mebirouk, Alfons Meindl, Emmanuelle Mouret‐Fourme, Hannah Musgrave, Joanne Ngeow, Dieter Niederacher, Sue K. Park, Inge Søkilde Pedersen, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Muhammad Usman Rashid, Florian Reichl, Julia Ritter, Andreas Rump, Marta Santamariña, Claire Saule, Gunnar Schmidt, Rita K. Schmutzler, Leigha Senter, Saba Shariff, Christian F. Singer, Melissa C. Southey, Dominique Stoppa‐Lyonnet, Christian Sutter, Yen Y. Tan, Soo‐Hwang Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Ana Vega, Sebastian Wagner, Shan Wang‐Gohrke, Barbara Wappenschmidt, Bernhard H. F. Weber, Drakoulis Yannoukakos, Amanda B. Spurdle, Douglas F. Easton, Georgia Chenevix‐Trench

    出版 2022
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  17. 17
    Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

    Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk 由 Mia M. Gaudet, Karoline Kuchenbaecker, Joseph Vijai, Robert J. Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M. Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olga M. Sinilnikova, V. Shane Pankratz, Xianshu Wang, Ronald C. Eldridge, Daniel C. Tessier, Daniel Vincent, François Bacot, Frans B.L. Hogervorst, Susan Peock, Dominique Stoppa‐Lyonnet, Paolo Peterlongo, Rita K. Schmutzler, Katherine L. Nathanson, Marion Piedmonte, Christian F. Singer, Mads Thomassen, Thomas van Overeem Hansen, Susan L. Neuhausen, Ignacio Blanco, Mark H. Greene, Judith Garber, Jeffrey N. Weitzel, Irene L. Andrulis, David E. Goldgar, Emma D’Andrea, Trinidad Caldés, Heli Nevanlinna, Ana Osório, Elizabeth J. van Rensburg, Aðalgeir Arason, Gad Rennert, Ans M.W. van den Ouweland, Annemarie H. van der Hout, Carolien M. Kets, Cora M. Aalfs, Juul Wijnen, Margreet G.E.M. Ausems, Debra Frost, Ian O. Ellis, Elena Fineberg, Radka Platte, D. Gareth Evans, Chris Jacobs, Julian Adlard, Marc Tischkowitz, Mary Porteous, Francesca Damiola, Lisa Golmard, Laure Barjhoux, Michel Longy, Muriel Belotti, Sandra Fert Ferrer, Sylvie Mazoyer, Amanda B. Spurdle, Siranoush Manoukian, Monica Barile, Maurizio Genuardi, Norbert Arnold, Thomas Ind, Christian Sutter, Barbara Wappenschmidt, Susan M. Domchek, Georg Pfeiler, Eitan Friedman, Uffe Birk Jensen, Mark E. Robson, Sohela Shah, Conxi Lázaro, L. Phuong, Javier Benı́tez, Melissa C. Southey, Marjanka K. Schmidt, Peter A. Fasching, Julian Peto, Manjeet K. Humphreys, Qin Wang, Kyriaki Michailidou, Elinor J. Sawyer, Barbara Burwinkel, Pascal Guénel, Stig E. Bojesen, Roger L. Milne, Hermann Brenner, Magdalena Lochmann, Kristiina Aittomäki, Thilo Dörk, Sara Margolin

    出版 2013
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