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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot, Christine; Schmaltz-Panneau, Barbara; Marty, Caroline; Fenneteau, Odile; Callebaut, Isabelle; Clauin, Séverine; Docet, Aurélie; Damaj, Gandhi-Laurent; Leblanc, Thierry; Pellier, Isabelle; Stoven, Cécile; Souquere, Sylvie; Antony-Debré, Iléana; Beaupain, Blandine; Aladjidi, Nathalie; Barlogis, Vincent; Bauduer, Frédéric; Bensaid, Philippe; Boespflug-Tanguy, Odile; Berger, Claire; Bertrand, Yves; Carausu, Liana; Fieschi, Claire; Galambrun, Claire; Schmidt, Aline; Journel, Hubert; Mazingue, Françoise; Nelken, Brigitte; Quah, Thuan Chong; Oksenhendler, Eric; Ouachée, Marie; Pasquet, Marlène; Saada, Véronique; Suarez, Felipe; Pierron, Gérard; Vainchenker, William; Plo, Isabelle; Donadieu, Jean.
Affiliation
  • Bellanné-Chantelot C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.
  • Schmaltz-Panneau B; INSERM UMR1170 and.
  • Marty C; INSERM UMR1170 and.
  • Fenneteau O; University Paris-Saclay, Gustave Roussy, Villejuif, France.
  • Callebaut I; INSERM UMR1170 and.
  • Clauin S; University Paris-Saclay, Gustave Roussy, Villejuif, France.
  • Docet A; Laboratory of Hematology, Robert Debré Hospital, AP-HP, Paris, France.
  • Damaj GL; CNRS UMR7590, Sorbonne Universités, Université Pierre et Marie Curie-Paris 6-MNHN-IRD-IUC, Paris, France.
  • Leblanc T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.
  • Pellier I; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France.
  • Stoven C; Department of Hematology, Centre Hospitalier Universitaire (CHU), Faculté de Médecine, University of Normandie Caen, Caen, France.
  • Souquere S; Department of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France.
  • Antony-Debré I; Department of Pediatric Hematology, Immunology and Oncology, CHU, Angers, France.
  • Beaupain B; Department of Pediatrics, CHU La Réunion, Groupe Hospitalier Sud Réunion, France.
  • Aladjidi N; CNRS UMR9196, Gustave Roussy, Villejuif, France.
  • Barlogis V; INSERM UMR1170 and.
  • Bauduer F; University Paris-Saclay, Gustave Roussy, Villejuif, France.
  • Bensaid P; French Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France.
  • Boespflug-Tanguy O; Unit of Pediatric Hematology, Centre d'Investigation Clinique 1401 INSERM Centre d'Investigation Clinique Plurithématique, CHU Bordeaux, France.
  • Berger C; Department of Pediatric Hematology, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
  • Bertrand Y; Centre Hospitalier Côte Basque, Bayonne, France.
  • Carausu L; Department of Pediatrics, Centre Hospitalier Argenteuil, Argenteuil, France.
  • Fieschi C; Child Neurology and Metabolic Disorders Department, Robert Debré Hospital, AP-HP, Paris, France.
  • Galambrun C; Department of Pediatric Hematology and Oncology, CHU, Saint-Etienne, France.
  • Schmidt A; Institut of Pediatric Hematology and Oncology, Lyon, France.
  • Journel H; Department of Pediatric Hematology and Oncology, CHU, Brest, France.
  • Mazingue F; Department of Clinical Immunology, Saint-Louis Hospital, AP-HP, Paris, France.
  • Nelken B; Department of Pediatric Hematology, Timone Hospital, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
  • Quah TC; Department of Hematology, CHU, Angers, France.
  • Oksenhendler E; INSERM U892/CNRS 6299, Angers University, Angers, France.
  • Ouachée M; Department of Genetics, Bretagne-Atlantique Hospital, Vannes, France.
  • Pasquet M; Department of Pediatric Hematology and Oncology, CHRU, Lille, France.
  • Saada V; Department of Pediatric Hematology and Oncology, CHRU, Lille, France.
  • Suarez F; Department of Pediatrics, National University Hospital, Singapore.
  • Pierron G; Department of Clinical Immunology, Saint-Louis Hospital, AP-HP, Paris, France.
  • Vainchenker W; Department of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France.
  • Plo I; Institut of Pediatric Hematology and Oncology, Lyon, France.
  • Donadieu J; Department of Pediatric Hematology and Oncology, CHU, Toulouse, France.
Blood ; 132(12): 1318-1331, 2018 09 20.
Article in En | MEDLINE | ID: mdl-29914977
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exocrine Pancreatic Insufficiency / Bone Marrow Diseases / Signal Recognition Particle / Endoplasmic Reticulum Stress / Lipomatosis / Mutation / Neutropenia Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: Blood Year: 2018 Type: Article Affiliation country: France
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exocrine Pancreatic Insufficiency / Bone Marrow Diseases / Signal Recognition Particle / Endoplasmic Reticulum Stress / Lipomatosis / Mutation / Neutropenia Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Journal: Blood Year: 2018 Type: Article Affiliation country: France