Søgeresultater - José‐Mario Capo‐Chichi

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  1. 1
    Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation

    Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation af Aoife J McCarthy, José‐Mario Capo‐Chichi, Tara Spence, Sylvie Grenier, Tracy Stockley, Suzanne Kamel‐Reid, Stefano Serra, Peter Sabatini, Runjan Chetty

    Udgivet 2018
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  2. 2
    TP53 Mutations in AML Patients Are Associated with Dismal Clinical Outcome Irrespective of Frontline Induction Regimen and Allogeneic Hematopoietic Cell Transplantation

    TP53 Mutations in AML Patients Are Associated with Dismal Clinical Outcome Irrespective of Frontline Induction Regimen and Allogeneic Hematopoietic Cell Transplantation af Davidson Zhao, Mojgan Zarif, Qianghua Zhou, José‐Mario Capo‐Chichi, Andre C. Schuh, Mark D. Minden, Eshetu G. Atenafu, Rajat Kumar, Hong Chang

    Udgivet 2023
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  3. 3
    Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia

    Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia af Andrew Seto, Gregory S. Downs, Olivia King, Shabnam Salehi‐Rad, Ana Alice Baptista, Kayu Chin, Sylvie Grenier, Bevoline Nwachukwu, Mark D. Minden, Adam C. Smith, José‐Mario Capo‐Chichi

    Udgivet 2024
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  4. 4
    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome af José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Éliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert Brosh, André Mégarbané, Zoha Kibar

    Udgivet 2012
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  5. 5
    Cardiovascular Disease Among Patients With AML and CHIP-Related Mutations

    Cardiovascular Disease Among Patients With AML and CHIP-Related Mutations af Oscar Calvillo‐Argüelles, Alice Carvalhal Schöffel, José‐Mario Capo‐Chichi, Husam Abdel‐Qadir, Andre C. Schuh, Montserrat Carrillo-Estrada, Shiying Liu, Vikas Gupta, Aaron D. Schimmer, Karen Yee, Liran I. Shlush, Pradeep Natarajan, Paaladinesh Thavendiranathan

    Udgivet 2022
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  6. 6
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia af Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    Udgivet 2013
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  7. 7
    De Novo Mutations in Moderate or Severe Intellectual Disability

    De Novo Mutations in Moderate or Severe Intellectual Disability af Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Édouard Henrion, Alexandre Dionne‐Laporte, Anne Fougerat, Alexey V. Pshezhetsky, Sunita Venkateswaran, Guy A. Rouleau, Jacques L. Michaud

    Udgivet 2014
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  8. 8
    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population af Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José‐Mario Capo‐Chichi, Simon Papillon‐Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael Shevell, Rachel Laframboise, Valérie Désilets, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    Udgivet 2012
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  9. 9
    Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

    Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies af Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José‐Mario Capo‐Chichi, Brigitte Delemer, Aurélio Balsalobre, Christina Nassif, Dimitrios T. Papadimitriou, Anne Pagnier, Caroline Hasselmann, Lysanne Patry, Jeremy Schwartzentruber, Pierre‐François Souchon, Shinobu Takayasu, A Enjalbert, Guy Van Vliet, Jacek Majewski, Jacques Drouin, Mark E. Samuels

    Udgivet 2014
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  10. 10
    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness af Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José‐Mario Capo‐Chichi, Nathalie Boddaert, Jean‐Claude Décarie, Bruno Maranda, Rima Nabbout, Michel Sylvain, Anne Lortie, Philippe P. Roux, Elsa Rossignol, Xavier Gérard, Giulia Barcia, Patrick Berquin, Arnold Münnich, Guy A. Rouleau, Josseline Kaplan, Jean‐Michel Rozet, Jacques L. Michaud

    Udgivet 2014
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  11. 11
    Somatic mutations in myeloid transcription factors and in activated signaling genes predict the risk of treatment failure and progression to advanced phase in chronic myeloid leukemia

    Somatic mutations in myeloid transcription factors and in activated signaling genes predict the risk of treatment failure and progression to advanced phase in chronic myeloid leuke... af Dennis Dong Huan Kim, María Agustina Perusini, Daniela Žáčková, Tae‐Hyung Kim, Kátia Bórgia Barbosa Pagnano, Carolina Pavlovsky, Ivana Ježíšková, Anežka Kvetková, Tomáš Jurček, Jaeyoon Kim, Youngseok Yoo, Seongyoon Yi, Hyewon Lee, Kyoung Ha Kim, Myung Hee Chang, José‐Mario Capo‐Chichi, Jessie J.F. Medeiros, Andrea Arruda, Mark D. Minden, Zhaolei Zhang, Sagi Abelson, Jiří Mayer

    Udgivet 2023
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  12. 12
    Mutations in myeloid transcription factors and activated signaling genes predict chronic myeloid leukemia outcomes

    Mutations in myeloid transcription factors and activated signaling genes predict chronic myeloid leukemia outcomes af María Agustina Perusini, Daniela Žáčková, Tae‐Hyung Kim, Kátia Bórgia Barbosa Pagnano, Carolina Pavlovsky, Ivana Ježíšková, Anežka Kvetková, Tomáš Jurček, Jaeyoon Kim, Youngseok Yoo, Seongyoon Yi, Hyewon Lee, Kyoung Ha Kim, Chang MyungHee, José‐Mario Capo‐Chichi, Jessie J.F. Medeiros, Andrea Arruda, Mark D. Minden, Zhaolei Zhang, Sagi Abelson, Jiřı́ Mayer, Dennis Dong Hwan Kim

    Udgivet 2024
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  13. 13
    FLT3 is genetically essential for ITD-mutated leukemic stem cells but dispensable for human hematopoietic stem cells

    FLT3 is genetically essential for ITD-mutated leukemic stem cells but dispensable for human hematopoietic stem cells af Joana Araújo, Elvin Wagenblast, Véronique Voisin, Jessica McLeod, Olga I. Gan, Suraj Bansal, Liqing Jin, Amanda Mitchell, Blaise Gratton, Sarah K. Cutting, Andrea Arruda, Monica Doedens, Anthea Travas, Dennis Dong Hwan Kim, José‐Mario Capo‐Chichi, Sagi Abelson, Mark D. Minden, Jean Wang, Manuel Sobrinho Simões, Perpétua Pinto‐do‐Ó, Eric R. Lechman, John E. Dick

    Udgivet 2025
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  14. 14
    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy af Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik‐Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman‐Sagie, Esther Leshinsky‐Silver, Yair Anikster, Edna Ben‐Asher, Tsviya Olender, Laurence Colleaux, Jean‐Claude Décarie, Susan Blasér, Brenda Banwell, Rasesh B. Joshi, Xiao‐Ping He, Lysanne Patry, Rachel Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong‐hui Jiang, William C. Wetsel, James O McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

    Udgivet 2013
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