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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Kermasson, Laëtitia; Churikov, Dmitri; Awad, Aya; Smoom, Riham; Lainey, Elodie; Touzot, Fabien; Audebert-Bellanger, Séverine; Haro, Sophie; Roger, Lauréline; Costa, Emilia; Mouf, Maload; Bottero, Adriana; Oleastro, Matias; Abdo, Chrystelle; de Villartay, Jean-Pierre; Géli, Vincent; Tzfati, Yehuda; Callebaut, Isabelle; Danielian, Silvia; Soares, Gabriela; Kannengiesser, Caroline; Revy, Patrick.
Afiliação
  • Kermasson L; Laboratory of Genome Dynamics in the Immune System, Laboratoire labellisé Ligue Naionale contre le Cancer, INSERM UMR 1163, Université de Paris, Imagine Institute, Paris, France.
  • Churikov D; U1068 INSERM, Unité Mixte de Recherche (UMR) 7258 (CNRS), Equipe Labellisée Ligue Nationale Contre le Cancer, Marseille Cancer Research Center (CRCM), Institut Paoli-Calmettes, Aix Marseille University, Marseille, France.
  • Awad A; Department of Genetics, The Silberman Institute of Life Science, The Hebrew University of Jerusalem, Safra Campus-Givat Ram, Jerusalem, Israel.
  • Smoom R; Department of Genetics, The Silberman Institute of Life Science, The Hebrew University of Jerusalem, Safra Campus-Givat Ram, Jerusalem, Israel.
  • Lainey E; Hematology Laboratory, Robert Debré Hospital-Assistance Publique-Hôpitaux de Paris (APHP); INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris, France.
  • Touzot F; Department of Immunology-Rheumatology, Department of Pediatrics, Centre Hospitalier Universitaire (CHU), Sainte Justine Research Center, Université de Montréal, Montréal, Quebec, Canada.
  • Audebert-Bellanger S; Department of Paediatrics and Medical Genetics, CHU de Brest, Brest, France.
  • Haro S; Department of Paediatrics and Medical Genetics, CHU de Brest, Brest, France.
  • Roger L; Structure and Instability of Genomes laboratory, "Muséum National d'Histoire Naturelle" (MNHN), INSERM U1154, CNRS UMR 7196, Paris, France.
  • Costa E; Serviço de Pediatria, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
  • Mouf M; 68HAL Meddle Laboratory, Zenon Skelter Institute, Green Hills, Eggum, Norway.
  • Bottero A; Servicio de Gastroenterología.
  • Oleastro M; Rheumathology and Immunology Service, Hospital Nacional de Pediatría JP Garrahan, Buenos Aires, Argentina.
  • Abdo C; Onco-Hematology, Assistance Publique-Hôpitaux de Paris, Université de Paris and Institut Necker Enfants Malades, Paris, France.
  • de Villartay JP; Laboratory of Genome Dynamics in the Immune System, Laboratoire labellisé Ligue Naionale contre le Cancer, INSERM UMR 1163, Université de Paris, Imagine Institute, Paris, France.
  • Géli V; U1068 INSERM, Unité Mixte de Recherche (UMR) 7258 (CNRS), Equipe Labellisée Ligue Nationale Contre le Cancer, Marseille Cancer Research Center (CRCM), Institut Paoli-Calmettes, Aix Marseille University, Marseille, France.
  • Tzfati Y; Department of Genetics, The Silberman Institute of Life Science, The Hebrew University of Jerusalem, Safra Campus-Givat Ram, Jerusalem, Israel.
  • Callebaut I; UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie (IMPMC), Muséum National d'Histoire Naturelle, Sorbonne Université, Paris, France.
  • Danielian S; Department of Immunology, JP Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.
  • Soares G; Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar e Universitário do Porto, Porto, Portugal; and.
  • Kannengiesser C; Service de Génétique, Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Université Paris Diderot, Paris, France.
  • Revy P; Laboratory of Genome Dynamics in the Immune System, Laboratoire labellisé Ligue Naionale contre le Cancer, INSERM UMR 1163, Université de Paris, Imagine Institute, Paris, France.
Blood ; 139(16): 2427-2440, 2022 04 21.
Article em En | MEDLINE | ID: mdl-35007328
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disceratose Congênita / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Blood Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Disceratose Congênita / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Blood Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França