Výsledky vyhledávání - Ledia Brunga

  • Zobrazuji výsledky 1 - 11 z 11
Upřesnit hledání
  1. 1
    Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes

    Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes Autor Mohammed Uddin, Marc Woodbury‐Smith, Ada J. S. Chan, Ledia Brunga, Sylvia Lamoureux, Giovanna Pellecchia, Ryan K. C. Yuen, Muhammad Faheem, Dimitri J. Stavropoulos, James M. Drake, Cecil D. Hahn, Cynthia Hawkins, Adam Shlien, Christian R. Marshall, Lesley Turner, Berge A. Minassian, Stephen W. Scherer, Cyrus Boelman

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Mutant p53 induces Golgi tubulo-vesiculation driving a prometastatic secretome

    Mutant p53 induces Golgi tubulo-vesiculation driving a prometastatic secretome Autor Valeria Capaci, Lorenzo Bascetta, Marco Fantuz, Galina V. Beznoussenko, Roberta Sommaggio, Valeria Cancila, Andrea Bisso, Elena Campaner, Alexander A. Mirоnоv, Jacek R. Wiśniewski, Luisa Ulloa Severino, Denis Scaini, Fleur Bossi, Jodi Lees, Noa Alon, Ledia Brunga, David Malkin, Silvano Piazza, Licio Collavin, Antonio Rosato, Silvio Bicciato, Claudio Tripodo, Fiamma Mantovani, Giannino Del Sal

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Diagnostic classification of childhood cancer using multiscale transcriptomics

    Diagnostic classification of childhood cancer using multiscale transcriptomics Autor Federico Comitani, Joshua O. Nash, Sarah Cohen‐Gogo, Astra I. Chang, Timmy T. Wen, Anant Maheshwari, Bipasha Goyal, Earvin S. Tio, Kevin Tabatabaei, Chelsea Mayoh, Regis Zhao, Ben Ho, Ledia Brunga, John E. Lawrence, Petra Balogh, Adrienne M. Flanagan, Sarah A. Teichmann, Annie Huang, Vijay Ramaswamy, Johann Hitzler, Jonathan D. Wasserman, Rebecca Gladdy, Brendan C. Dickson, Uri Tabori, Mark J. Cowley, Sam Behjati, David Malkin, Anita Villani, Meredith S. Irwin, Adam Shlien

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Early Cancer Detection in Li–Fraumeni Syndrome with Cell-Free DNA

    Early Cancer Detection in Li–Fraumeni Syndrome with Cell-Free DNA Autor Derek Wong, Ping Luo, Leslie E. Oldfield, Haifan Gong, Ledia Brunga, Ron Rabinowicz, Vallijah Subasri, Clarissa Chan, Tiana Downs, Kirsten M. Farncombe, Beatrice Luu, Maia Norman, Julia A. Sobotka, Precious Uju, Jenna Eagles, Stephanie Pedersen, Johanna Wellum, Arnavaz Danesh, Stephenie D. Prokopec, Eric Y. Stutheit-Zhao, Nadia Znassi, Lawrence E. Heisler, Richard Jovelin, Bernard Lam, Beatriz E. Lujan Toro, Kayla Marsh, Yogi Sundaravadanam, Dax Torti, Carina Man, Anna Goldenberg, Wei Xu, Patrick Veit‐Haibach, Andréa S. Doria, David Malkin, Raymond H. Kim, Trevor J. Pugh

    Vydáno 2023
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors

    Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors Autor Nathaniel D. Anderson, Richard de Borja, Matthew D. Young, Fabio Fuligni, Andrej Rosic, Nicola D. Roberts, Simon Hajjar, Mehdi Layeghifard, Ana Novokmet, Paul E. Kowalski, Matthew Anaka, Scott Davidson, Mehdi Zarrei, Badr Id Said, Laura Schreiner, Remi Marchand, Joseph Sitter, Nalan Gökgöz, Ledia Brunga, Garrett T. Graham, Anthony Fullam, Nischalan Pillay, Jeffrey A. Toretsky, Akihiko Yoshida, Tatsuhiro Shibata, Markus Metzler, Gino R. Somers, Stephen W. Scherer, Adrienne M. Flanagan, Peter J. Campbell, Joshua D. Schiffman, Mary Shago, Ludmil B. Alexandrov, Jay S. Wunder, Irene L. Andrulis, David Malkin, Sam Behjati, Adam Shlien

    Vydáno 2018
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset

    Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset Autor Jiil Chung, Logine Negm, Vanessa Bianchi, Lucie Stengs, Anirban Das, Zhihui Amy Liu, Sumedha Sudhaman, Melyssa Aronson, Ledia Brunga, Melissa Edwards, Victoria J. Forster, Martin Komosa, Scott Davidson, Jodi Lees, Patrick Tomboc, David Samuel, Roula Farah, Anne Bendel, Jeffrey Knipstein, Kami Wolfe Schneider, Agnes Reschke, Shayna Zelcer, Alexandra P. Zorzi, Robert R. McWilliams, William D. Foulkes, Raymond Bedgood, Lindsay L. Peterson, Sara Rhode, An Van Damme, Isabelle Scheers, Sharon L. Gardner, Gabriel Robbins, Magimairajan Vanan, M. Stephen Meyn, Rebecca C. Auer, Brandie Heald, Carol A. Burke, Anita Villani, David Malkin, Éric Bouffet, Annie Huang, Michael D. Taylor, Carol Durno, Adam Shlien, Cynthia Hawkins, Gad Getz, Yosef E. Maruvka, Uri Tabori

    Vydáno 2022
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

    The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations Autor Anita Villani, Scott Davidson, Nisha Kanwar, Winnie Lo, Yisu Li, Sarah Cohen‐Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D. Anderson, Arun Ramani, Kyoko E. Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Y. Shuen, Jonathan D. Wasserman, Rosemarie E. Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, P. Montero, Famida Spatare, James A. Whitlock, Stephen W. Scherer, Kathy Chun, Martin J. Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramaswamy, Gino R. Somers, Lianna Kyriakopoulou, Johann Hitzler, Mary Shago, Daniel A. Morgenstern, Uri Tabori, M. Stephen Meyn, Meredith S. Irwin, David Malkin, Adam Shlien

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells

    DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells Autor Jiil Chung, Yosef E. Maruvka, Sumedha Sudhaman, Jacalyn Kelly, Nicholas J. Haradhvala, Vanessa Bianchi, Melissa Edwards, Victoria J. Forster, Nuno M. Nunes, Melissa A. Galati, Martin Komosa, Shriya Deshmukh, Vanja Cabric, Scott Davidson, Matthew Zatzman, Nicholas Light, Reid Hayes, Ledia Brunga, Nathaniel D. Anderson, Ben Ho, Karl P. Hodel, Robert Siddaway, A. Sorana Morrissy, Daniel C. Bowers, Valérie Larouche, Annika Bronsema, Michael Osborn, Kristina A. Cole, Enrico Opocher, Gary Mason, Gregory A. Thomas, Ben George, David S. Ziegler, Scott Lindhorst, Magimairajan Vanan, Michal Yalon-Oren, Alyssa Reddy, Maura Massimino, Patrick Tomboc, An Van Damme, Alexander Lossos, Carol Durno, Melyssa Aronson, Daniel A. Morgenstern, Éric Bouffet, Annie Huang, Michael D. Taylor, Anita Villani, David Malkin, Cynthia Hawkins, Zachary F. Pursell, Adam Shlien, Thomas A. Kunkel, Gad Getz, Uri Tabori

    Vydáno 2020
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

    Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes Autor Catherine Goudie, Leora Witkowski, Noelle Cullinan, Lara Reichman, Ian Schiller, Melissa Tachdjian, Linlea Armstrong, Katherine A Blood, Josée Brossard, Ledia Brunga, Chantel Cacciotti, Kimberly Caswell, Sonia Cellot, M. Clark, Catherine Clinton, Hallie Coltin, Kathleen Felton, Conrad V. Fernandez, Adam Fleming, Noemi Fuentes-Bolanos, Paul Gibson, Ronald Grant, Rawan Hammad, Lynn W. Harrison, Meredith S. Irwin, Donna L. Johnston, Sarah Kane, Lucie Lafay‐Cousin, Irene Lara‐Corrales, Valérie Larouche, Natalie Mathews, M. Stephen Meyn, Orli Michaeli, Renée Perrier, Meghan Pike, Angela Punnett, Vijay Ramaswamy, Jemma Say, Gino R. Somers, Uri Tabori, My Linh Thibodeau, Annie-Kim Toupin, Katherine Tucker, Kalene van Engelen, Stéphanie Vairy, Nicolas Waespe, Meera Warby, Jonathan D. Wasserman, James A. Whitlock, Daniel Sinnett, Nada Jabado, Paul C. Nathan, Adam Shlien, Junne Kamihara, Rebecca Deyell, David S. Ziegler, Kim E. Nichols, Nandini Dendukuri, David Malkin, Anita Villani, William D. Foulkes

    Vydáno 2021
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Autor Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Autor Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre D. Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux‐Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy L. Schneider, Georgie Hollingsworth, David Fitzpatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis‐Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten‐Janssen, Erik‐Jan Kamsteeg, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Alain Verloès, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson L. Ware, Dean Jones, Y. C. Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stöckler, Anna Lehman, Boris Keren, Marie‐Christine Nouguès, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Émilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon Girard, Saadet Mercimek‐Mahmutoglu, Cyrus Boelman, Guy A. Rouleau

    Vydáno 2017
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: