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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne-Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo.
  • Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.
  • Delle Vedove A; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
  • Carli D; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
  • Ferrero M; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.
  • Carestiato S; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.
  • Howe JL; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy.
  • Agolini E; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.
  • Coviello DA; Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy.
  • van de Laar I; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.
  • Au PYB; The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Di Gregorio E; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Fabbiani A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Croci S; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands.
  • Mencarelli MA; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
  • Bruno LP; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
  • Renieri A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
  • Veltra D; Medical Genetics, University of Siena, 53100 Siena, Italy.
  • Sofocleous C; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
  • Faivre L; Medical Genetics, University of Siena, 53100 Siena, Italy.
  • Mazel B; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
  • Safraou H; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
  • Denommé-Pichon AS; Medical Genetics, University of Siena, 53100 Siena, Italy.
  • van Slegtenhorst MA; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
  • Giesbertz N; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
  • van Jaarsveld RH; Medical Genetics, University of Siena, 53100 Siena, Italy.
  • Childers A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
  • Rogers RC; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.
  • Novelli A; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.
  • De Rubeis S; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.
  • Buxbaum JD; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.
  • Scherer SW; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.
  • Ferrero GB; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.
  • Wirth B; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Brusco A; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.
Brain ; 146(2): 534-548, 2023 02 13.
Article en En | MEDLINE | ID: mdl-35979925
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno por Déficit de Atención con Hiperactividad / Células Madre Pluripotentes Inducidas / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Trastornos del Desarrollo del Lenguaje Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno por Déficit de Atención con Hiperactividad / Células Madre Pluripotentes Inducidas / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Trastornos del Desarrollo del Lenguaje Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article