Ngā hua rapu - 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 mā Aoife J McCarthy, José‐Mario Capo‐Chichi, Tara Spence, Sylvie Grenier, Tracy Stockley, Suzanne Kamel‐Reid, Stefano Serra, Peter Sabatini, Runjan Chetty

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Davidson Zhao, Mojgan Zarif, Qianghua Zhou, José‐Mario Capo‐Chichi, Andre C. Schuh, Mark D. Minden, Eshetu G. Atenafu, Rajat Kumar, Hong Chang

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2022
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    Artigo
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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 mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    De Novo Mutations in Moderate or Severe Intellectual Disability

    De Novo Mutations in Moderate or Severe Intellectual Disability mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2014
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    Artigo
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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... mā 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

    I whakaputaina 2023
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    Pré-impressão
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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 mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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