Canlyniadau Chwilio - 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 gan Aoife J McCarthy, José‐Mario Capo‐Chichi, Tara Spence, Sylvie Grenier, Tracy Stockley, Suzanne Kamel‐Reid, Stefano Serra, Peter Sabatini, Runjan Chetty

    Cyhoeddwyd 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 gan Davidson Zhao, Mojgan Zarif, Qianghua Zhou, José‐Mario Capo‐Chichi, Andre C. Schuh, Mark D. Minden, Eshetu G. Atenafu, Rajat Kumar, Hong Chang

    Cyhoeddwyd 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 gan 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

    Cyhoeddwyd 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 gan 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

    Cyhoeddwyd 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 gan 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

    Cyhoeddwyd 2022
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  6. 6
    Genetic factors rather than blast reduction determine outcomes of allogeneic HCT in BCR-ABL–negative MPN in blast phase

    Genetic factors rather than blast reduction determine outcomes of allogeneic HCT in BCR-ABL–negative MPN in blast phase gan Vikas Gupta, Theodore A. Kennedy, José‐Mario Capo‐Chichi, Soyoung Kim, Zhen‐Huan Hu, Edwin P. Alyea, Uday Popat, Ronald Sobecks, Bart L. Scott, Aaron T. Gerds, Rachel B. Salit, H. Joachim Deeg, Ryotara Nakamura, Wael Saber

    Cyhoeddwyd 2020
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  7. 7
    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 gan 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

    Cyhoeddwyd 2013
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  8. 8
    De Novo Mutations in Moderate or Severe Intellectual Disability

    De Novo Mutations in Moderate or Severe Intellectual Disability gan 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

    Cyhoeddwyd 2014
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  9. 9
    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

    Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population gan 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

    Cyhoeddwyd 2012
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  10. 10
    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 gan 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

    Cyhoeddwyd 2014
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  11. 11
    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

    Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness gan 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

    Cyhoeddwyd 2014
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  12. 12
    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... gan 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

    Cyhoeddwyd 2023
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  13. 13
    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 gan 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

    Cyhoeddwyd 2024
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  14. 14
    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 gan 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

    Cyhoeddwyd 2025
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  15. 15
    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 gan 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

    Cyhoeddwyd 2013
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