Kết quả tìm kiếm - José‐Mario Capo‐Chichi
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1
Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation Bằng Aoife J McCarthy, José‐Mario Capo‐Chichi, Tara Spence, Sylvie Grenier, Tracy Stockley, Suzanne Kamel‐Reid, Stefano Serra, Peter Sabatini, Runjan Chetty
Được phát hành 2018Artigo -
2
TP53 Mutations in AML Patients Are Associated with Dismal Clinical Outcome Irrespective of Frontline Induction Regimen and Allogeneic Hematopoietic Cell Transplantation Bằng Davidson Zhao, Mojgan Zarif, Qianghua Zhou, José‐Mario Capo‐Chichi, Andre C. Schuh, Mark D. Minden, Eshetu G. Atenafu, Rajat Kumar, Hong Chang
Được phát hành 2023Artigo -
3
Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia Bằng 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
Được phát hành 2024Pré-impressão -
4
Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome Bằng 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
Được phát hành 2012Artigo -
5
Cardiovascular Disease Among Patients With AML and CHIP-Related Mutations Bằng 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
Được phát hành 2022Artigo -
6
Genetic factors rather than blast reduction determine outcomes of allogeneic HCT in BCR-ABL–negative MPN in blast phase Bằng 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
Được phát hành 2020Artigo -
7
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia Bằng 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
Được phát hành 2013Artigo -
8
De Novo Mutations in Moderate or Severe Intellectual Disability Bằng 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
Được phát hành 2014Artigo -
9
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population Bằng 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
Được phát hành 2012Artigo -
10
Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies Bằng 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
Được phát hành 2014Artigo -
11
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Bằng 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
Được phát hành 2014Artigo -
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 leuke... Bằng 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
Được phát hành 2023Pré-impressão -
13
Mutations in myeloid transcription factors and activated signaling genes predict chronic myeloid leukemia outcomes Bằng 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
Được phát hành 2024Artigo -
14
FLT3 is genetically essential for ITD-mutated leukemic stem cells but dispensable for human hematopoietic stem cells Bằng 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
Được phát hành 2025Artigo -
15
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Bằng 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
Được phát hành 2013Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Cancer research
Myeloid leukemia
Exome sequencing
Oncology
Loss function
Phenotype
Proband
Allele
Cancer
Compound heterozygosity
Confidence interval
Endocrinology
Haematopoiesis
Hazard ratio
Immunology
Leukemia
Missense mutation
Myeloid
Proportional hazards model
Sanger sequencing
Stem cell
Transplantation
Amino acid
Antibody