Depósito Digital de Documentos de la UAB Encontrados 59 registros  1 - 10siguientefinal  ir al registro: La búsqueda tardó 0.00 segundos. 
1.
18 p, 3.7 MB The KMT2A recombinome of acute leukemias in 2023 / Meyer, Claus (DCAL/Institute of Pharm. Biology. Goethe-University(Alemanya)) ; Larghero, Patrizia (DCAL/Institute of Pharm. Biology. Goethe-University (Alemanya)) ; Lopes, BA. (DCAL/Institute of Pharm. Biology. Goethe-University (Alemanya)) ; Burmeister, Thomas (Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany) ; Gröger, Daniela (Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin (Alemanya)) ; Sutton, Rosemary (Molecular Diagnostics. Children's Cancer Institute. Lowy Cancer Research Centre. UNSW (Sidney, Austràlia)) ; Venn, Nicola C. (Molecular Diagnostics. Children's Cancer Institute. Lowy Cancer Research Centre. UNSW (Sidney, Austràlia)) ; Cazzaniga, Giovanni (University of Milano-Bicocca/Fondazione Tettamanti (Itàlia)) ; Corral Abascal, Lilia (University of Milano-Bicocca/Fondazione Tettamanti (Itàlia)) ; Tsaur, Grigory А. (Research Institute of Medical Cell Technologies (Ekaterinburg, Rússia)) ; Fechina, Larisa G. (Research Institute of Medical Cell Technologies (Ekaterinburg, Rússia)) ; Emerenciano, Mariana (Instituto Nacional de Câncer (INCA)(Rio de Janeiro, Brasil)) ; Pombo-de-Oliveira, Maria S. (Instituto Nacional de Câncer (INCA)(Rio de Janeiro, Brasil)) ; Lund-Aho, Tiina (Laboratory of Clinical Genetics, Fimlab Laboratories (Tampere, Finlàndia)) ; Lundán, Tuija (University of Turku and Turku University Hospital (Turku, Finlàndia)) ; Montonen, M. (University of Turku and Turku University Hospital (Turku, Finlàndia)) ; Juvonen, Vesa (University of Turku and Turku University Hospital (Turku, Finlàndia)) ; Zuna, Jan (Charles University and University Hospital Motol (Praga, República Txeca)) ; Trka, Jan M. (Charles University and University Hospital Motol (Praga, República Txeca)) ; Ballerini, Paola (Pierre et Marie Curie University (París, França)) ; Lapillonne, Hélène (Pierre et Marie Curie University (París, França)) ; Van der Velden, Vincent (University Medical Center Rotterdam (Països Baixos)) ; Sonneveld, Edwin (Princess Máxima Center for Pediatric Oncology (Utrecht, Països Baixos)) ; Delabesse, Éric C. M. (Institut Universitaire du Cancer de Toulouse (França)) ; Capela de Matos, Roberto (National Cancer Institute (INCA) (Rio de Janeiro, Brasil)) ; Silva, Maria Luiza (National Cancer Institute (INCA) (Rio de Janeiro, Brasil)) ; Bomken, Simon (Newcastle University, Newcastle upon Tyne (Regne Unit)) ; Katsibardi, Katerina (National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital (Atenes, Grècia)) ; Keernik, Maria (Tartu University Hospital (Tartu, Estònia)) ; Grardel, Nathalie (University Hospital Claude Huriez) ; Mason, J. (Newcastle University and the Great North Children's West Midlands Regional Genetics Laboratory (Regne Unit)) ; Price, Richard (Newcastle University and the Great North Children's West Midlands Regional Genetics Laboratory (Regne Unit)) ; Kim, J. (DCAL/Institute of Pharm. Biology. Goethe-University (Alemanya)) ; Eckert, Cornelia (Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin (Alemanya)) ; Lo Nigro, Luca (Centro di Riferimento Regionale di Ematologia ed Oncologia Pediatrica, Azienda Policlinico "G. Rodolico" (Catània, Itàlia)) ; Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Menéndez Bujan, Pablo (Centro di Riferimento Regionale di Ematologia ed Oncologia Pediatrica, Azienda Policlinico "G. Rodolico" (Catània, Itàlia)) ; Zur Stadt, Udo (University Medical Center Hamburg-Eppendorf (Hamburg, Alemanya)) ; Gameiro, Paula (Instituto Português de Oncologia, Departament of Hematology (Lisboa, Portugal)) ; Sedek, Łukasz (Medical University of Silesia (Zabrze, Polònia)) ; Szczepanski, Tomasz (Medical University of Silesia (Zabrze, Polònia)) ; Bidet, A. (Laboratoire d'Hématologie Biologique, CHU Bordeaux (França)) ; Marcu, Victoria (Hematology Laboratory, Sheba Medical Center, Tel-Hashomer, Israel) ; Shichrur, Keren (Schneider Children's Medical Center of Israel, Petah Tikva, Israel) ; Izraeli, Shai (Tel Aviv University, Tel Aviv, Israel) ; Madsen, Hans Ole (Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark) ; Schäfer, Beat (University Children's Hospital Zurich (Zúric, Suïssa)) ; Kubetzko, Susanne (University Children's Hospital Zurich (Zúric, Suïssa)) ; Kim, Rathana (Université Paris Cité (França)) ; Clappier, Emmanuelle (Université Paris Cité (França)) ; Trautmann, Heiko (University Hospital Schleswig-Holstein (Kiel, Alemanya)) ; Brüggemann, Monika (University Hospital Schleswig-Holstein (Kiel, Alemanya)) ; Archer, Paul (Bristol Genetics Laboratory, North Bristol NHS Trust (Bristol, Regne Unit)) ; Hancock, Jeremy P. (Bristol Genetics Laboratory, North Bristol NHS Trust (Bristol, Regne Unit)) ; Alten, Julia (University Hospital Schleswig-Holstein (Kiel, Alemanya)) ; Möricke, Anja (University Hospital Schleswig-Holstein (Kiel, Alemanya)) ; Stanulla, Martin (Department of Pediatrics, MHH (Hanover, Alemanya)) ; Lentes, Jana (Medical School Hannover (Alemanya)) ; Bergmann, Anke K. (Medical School Hannover (Alemanya)) ; Strehl, Sabine (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria)) ; Köhrer, Stefan (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria)) ; Nebral, Karin (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria)) ; Dworzak, Michael Norbert (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria)) ; Haas, Oskar A. (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria)) ; Arfeuille, Chloe (Hopital Robert Debré (París, França)) ; Caye Eude, Aurélie (Hopital Robert Debré (París, França)) ; Cavé, Hélène (Hopital Robert Debré (París, França)) ; Marschalek, Rolf (Goethe-University (Alemanya))
Chromosomal rearrangements of the human KMT2A/MLL gene are associated with de novo as well as therapy-induced infant, pediatric, and adult acute leukemias. Here, we present the data obtained from 3401 acute leukemia patients that have been analyzed between 2003 and 2022. [...]
2023 - 10.1038/s41375-023-01877-1
Leukemia, Vol. 37 Núm. 5 (may 2023) , p. 988-1005  
2.
16 p, 3.8 MB Genetic and phenotypic attributes of splenic marginal zone lymphoma / Bonfiglio, Ferdinando (Institute of Oncology Research, Bellinzona, Switzerland) ; Bruscaggin, Alessio (Institute of Oncology Research, Bellinzona, Switzerland) ; Guidetti, Francesca (Institute of Oncology Research, Bellinzona, Switzerland) ; Terzi di Bergamo, Lodovico (Institute of Oncology Research, Bellinzona, Switzerland) ; Faderl, Martin (Institute of Oncology Research, Bellinzona, Switzerland) ; Spina, Valeria (Institute of Oncology Research, Bellinzona, Switzerland) ; Condoluci, Adalgisa (Institute of Oncology Research, Bellinzona, Switzerland) ; Bonomini, Luisella (International Extranodal Lymphoma Study Group, Bellinzona, Switzerland) ; Forestieri, Gabriela (Institute of Oncology Research, Bellinzona, Switzerland) ; Koch, Ricardo (Institute of Oncology Research, Bellinzona, Switzerland) ; Piffaretti, Deborah (Institute of Oncology Research, Bellinzona, Switzerland) ; Pini, Katia (Institute of Oncology Research, Bellinzona, Switzerland) ; Pirosa, Maria Cristina (Division of Hematology, Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Cittone, Micol Giulia (Division of Hematology, Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Arribas, Alberto (Lymphoma Genomics, Institute of Oncology Research, Bellinzona, Switzerland) ; Lucioni, Marco (Fondazione IRCCS Policlinico San Matteo and Università degli Studi di Pavia, Pavia, Italy) ; Ghilardi, Guido (Division of Hematology, Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.) ; Wu, Wei (Institute of Oncology Research, Bellinzona, Switzerland) ; Arcaini, Luca (University of Pavia, Pavia, Italy.) ; Baptista, Maria Joao (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Bastidas-Mora, Gabriela (Hospital Clínic i Provincial de Barcelona) ; Bea, Sílvia (Hospital Clínic i Provincial de Barcelona) ; Boldorini, Renzo (University of Eastern Piedmont, Novara, Italy) ; Broccoli, Alessandro (IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia Seràgnoli, Bologna, Italy.) ; Buehler, Marco Matteo (University Hospital Zurich, Switzerland) ; Canzonieri, Vincenzo (Pathology Unit, CRO Aviano National Cancer Institute, Aviano, Italy) ; Cascione, Luciano (Institute of Oncology Research, Bellinzona, Switzerland) ; Ceriani, Luca (Clinic of Nuclear Medicine and PET-CT Centre, Imaging Institute of Southern Switzerland, Bellinzona, Switzerland) ; Cogliatti, Sergio (Institute of Pathology, Kantonsspital St Gallen, St Gallen, Switzerland) ; Corradini, Paolo (Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy) ; Derenzini, Enrico (European Institute of Oncology (IEO) IRCCS, Milan, Italy) ; Devizzi, Liliana (Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Italy) ; Dietrich, Sascha (University Hospital Heidelberg, Germany) ; Elia, Angela Rita (Institute of Oncology Research, Bellinzona, Switzerland) ; Facchetti, Fabio (Pathology Unit, Spedali Civili, Brescia, Italy) ; Gaidano, Gianluca (University of Eastern Piedmont, Novara, Italy) ; Garcia, Juan Fernando (MD Anderson Cancer Center, Madrid) ; Gerber, Bernhard (Division of Hematology, Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Ghia, Paolo (IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Milan, Italy) ; Gomes da Silva, Maria (Instituto Português de Oncologia de Lisboa, Portugal) ; Gritti, Giuseppe (Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy) ; Guidetti, Anna (Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Italy) ; Hitz, Felicitas (Kantonsspital St Gallen, St Gallen, Switzerland) ; Inghirami, Giorgio (Weill Cornell Medical College, New York) ; Ladetto, Marco (Azienda Ospedaliera SS Antonio e Biagio, Alessandria, Italy) ; Lopez-Guillermo, Armando (Hospital Clínic i Provincial de Barcelona) ; Lucchini, Elisa (Azienda Sanitaria Universitaria Giuliano Isontina, Trieste, Italy) ; Maiorana, Antonino (Universitá degli Studi di Modena e Reggio Emilia, Modena, Italy) ; Marasca, Roberto (University of Modena and Reggio Emilia, Modena, Italy) ; Matutes, Estella (Hospital Clínic i Provincial de Barcelona) ; Meignin, Veronique (Saint Louis Hospital, Paris, France) ; Merli, Michele (University of Insubria and ASST Sette Laghi, Ospedale di Circolo of Varese, Varese, Italy) ; Moccia, Alden (Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Mollejo, Manuela (Hospital Virgen de la Salud (Toledo)) ; Montalban, Carlos (MD Anderson Cancer Center, Madrid) ; Novak, Urban (University of Bern, Bern, Switzerland) ; Oscier, David Graham (University Hospitals Dorset, Bournemouth, United Kingdom) ; Passamonti, Francesco (University of Insubria) ; Piazza, Francesco (Ospedale Universitario di Padova, Italy) ; Pizzolitto, Stefano (General Hospital S Maria della Misericordia, Udine, Italy) ; Rambaldi, Alessandro (Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy) ; Sabattini, Elena (University of Bologna, Italy) ; Salles, Gilles (Université de Lyon, France) ; Santambrogio, Elisa (Candiolo Cancer Institute (FPO-IRCCS), Candiolo, Turin, Italy) ; Scarfò, Lydia (IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Milan, Italy) ; Stathis, Anastasios (Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Stüssi, Georg (Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Geyer, Julia T. (Weill Cornell Medical College, New York) ; Tapia, G. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Tarella, Corrado (European Institute of Oncology (IEO) IRCCS, Milan, Italy) ; Thieblemont, Catherine (Université de Paris, France) ; Tousseyn, Thomas (University Hospitals Leuven, Belgium) ; Tucci, Alessandra (Spedali Civili, Brescia, Italy.) ; Vanini, Giorgio (University of Bern, Switzerland) ; Visco, Carlo (University of Verona, Italy) ; Vitolo, Umberto (Candiolo Cancer Institute (FPO-IRCCS), Candiolo, Turin, Italy) ; Walewska, Renata (University Hospitals Dorset, Bournemouth, United Kingdom) ; Zaja, Francesco (Azienda Sanitaria Universitaria Giuliano Isontina, Trieste, Italy) ; Zenz, Thorsten (University Hospital Zurich, Switzerland) ; Zinzani, Pier Luigi (Università di Bologna, Italy) ; Khiabanian, Hossein (Rutgers University, New Brunswick) ; Calcinotto, Arianna (Institute of Oncology Research, Bellinzona, Switzerland) ; Bertoni, Francesco (Institute of Oncology Research, Bellinzona, Switzerland) ; Bhagat, Govind (Columbia University, New York, USA) ; Campo, Elias (Hospital Clínic i Provincial de Barcelona) ; de Leval, Laurence (Institut Universitaire de Pathologie, Lausanne, Switzerland) ; Dirnhofer, Stefan (University Hospital Basel (Basilea, Suïssa)) ; Pileri, Stefano A. (European Institute of Oncology IRCCS, Milan, Italy) ; Piris, Miguel Angel (Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid) ; Traverse-Glehen, Alexandra (Centre Hospitalier Lyon Sud, Lyon, France) ; Tzankov, Alexander (University Hospital Basel (Basilea, Suïssa)) ; Paulli, Marco (Fondazione IRCCS Policlinico San Matteo and Università degli Studi di Pavia, Italy) ; Ponzoni, Maurilio (Ateneo Vita-Salute San Raffaele University and Pathology Unit San Raffaele Scientific Institute, Milan, Italy) ; Mazzucchelli, Luca (antonal Institute of Pathology, Locarno, Switzerland) ; Cavalli, Franco (Institute of Oncology Research, Bellinzona, Switzerland; and.) ; Zucca, Emanuele (International Extranodal Lymphoma Study Group, Bellinzona, Switzerland) ; Rossi, Davide (Oncology Institute of Southern Switzerland, Bellinzona, Switzerland) ; Universitat Autònoma de Barcelona
Splenic marginal zone B-cell lymphoma (SMZL) is a heterogeneous clinico-biological entity. The clinical course is variable, multiple genes are mutated with no unifying mechanism, and essential regulatory pathways and surrounding microenvironments are diverse. [...]
2022 - 10.1182/blood.2021012386
Blood, Vol. 139 Núm. 5 (february 2022) , p. 732-747  
3.
9 p, 1.2 MB X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients / Xiol, Clara (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Vidal, Silvia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Pascual-Alonso, Ainhoa (Hospital Sant Joan de Déu (Manresa)) ; Blasco-Pérez, Laura (Hospital Sant Joan de Déu (Manresa)) ; Brandi Tarrau, Núria Mercedes (Universitat de Barcelona) ; Pacheco, Paola (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gerotina, Edgar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; O'Callaghan, Maria del Mar (Hospital Sant Joan de Déu (Manresa)) ; Pineda, Mercè (Institut de Recerca Sant Joan de Déu) ; Armstrong, Judith (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Aguirre, Francisco Javier (Hospital Torrecárdenas) ; Aleu, Montserrat (Hospital General Universitario de Valencia) ; Alonso, Xènia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Alsius, Mercè (Hospital Universitari de Girona Doctor Josep Trueta) ; Amorós, Maria Inmaculada (Hospital Punta Europa) ; Antiñolo Gil, Guillermo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Aquino, Lourdes (Hospital de Mataró. Consorci Sanitari del Maresme) ; Arellano, Carmen (Consorci Sanitari) ; Arriola, Gema (Hospital Universitario de Guadalajara) ; Arteaga, Rosa (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Barcos, Montserrat (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Belzunces, Nuria (Balagué Center) ; Boronat, Susanna (Hospital Universitari Vall d'Hebron) ; Camacho, Tomás (Lema & Bandin Laboratorios) ; Campistol, Jaume (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Campo, Andrea (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cancho, Ramon (Hospital Universitario Río Hortega (Valladolid)) ; Candau, Ramon (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Canós, Ignacio (Hospital Universitari Doctor Peset (València)) ; Carrascosa, María del Carmen (Complejo Hospitalario Universitario de Albacete) ; Carratalá-Marco, Francisco (Hospital Universitari San Juan) ; Casano, Jovaní (Consorci Hospitalari Provincial de Castelló) ; Castro, Pedro (Hospital General Universitario Gregorio Marañón) ; Cobo, Ana (Hospital de Donostia (Sant Sebastià, País Basc)) ; Colomer, Jaime (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Conejo, David (Complejo asistencial) ; Corrales, Maria José (Hospital General Mancha Centro) ; Cortés, Rocío (Hospital San Borja Arriaran) ; Cruz, Gabriel (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Csányi, Gábor (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Santos, María Teresa de (Hospital de Fuenlabrada) ; Toledo, María de (Hospital Universitario Severo Ochoa) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Domingo, Rosario (Hospital Infantil de La Arrixaca) ; Duat, Anna (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Duque, Rosario (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Esparza, Ana María (Consorci Hospitalari Provincial de Castelló) ; Fernández, Rosa (Hospital Universitario de Getafe (Madrid)) ; Fons, Maria Carme (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Fontalba, Ana (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Galán, Enrique (Hospital Materno-Infantil de Badajoz) ; Gallano, Pia (Institut d'Investigació Bomèdica Sant Pau) ; Gamundi, María José (Consorci Sanitari) ; García, Pedro Luis (Hospital Virgen de la Salud (Toledo)) ; García, María del Mar (Hospital Cormarcal de Figueres) ; García-Barcina, María (Hospital de Basurto (Bilbao, Biscaia)) ; Garcia-Catalan, María Jesús (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; García-Cazorla, Angels (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; García-Miñaur, Sixto (Hospital Universitario La Paz (Madrid)) ; Garcia-Peñas, Juan Jose (Hospital Infantil Universitario Niño Jesús (Madrid)) ; García-Silva, María Teresa (Hospital 12 de Octubre (Madrid)) ; Gassio, Rosa (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Geán, Esther (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gil, Belén (Hospital Universitario de Getafe (Madrid)) ; Gökben, Sarenur (Ege Ünŭversŭtesŭ Tip Fakültesŭ Pedŭatrŭ AD) ; Gonzalez, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Gonzalez, Veronica (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gonzalez, Julieta (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; González, Gloria (Balagué Center) ; Guillén, Encarna (Hospital Infantil de La Arrixaca) ; Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Guitet, Montserrat (Hospital General de Granollers) ; Gutierrez, Juan Manuel (Hospital Clínico Universitario de Valladolid) ; Gutiérrez, Eva (Hospital de Fuenlabrada) ; Herranz, Jose Luís (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Iglesias, Gemma (Hospital Virgen de La Luz (Cuenca)) ; Karacic, Iva (Clinical Hospital Center Zagreb) ; Lahoz, Carlos H. (Hospital Central Asturias) ; Lao, José Ignacio (Laboratorio Echevarne) ; Lapunzina, Pablo (Hospital Universitario La Paz (Madrid)) ; Lautre-Ecenarro, María Jesús (Hospital Clínico San Carlos (Madrid)) ; Lluch, María Dolores (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ; López-Ariztegui, Asunción (Hospital de Cruces (Barakaldo, Biscaia)) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Marín, Rosario (Hospital Universitario Puerta del Mar (Cadis, Andalusia)) ; Marquez, Charles M. Lourenço (University of São Paulo) ; Martín, Elena (Hospital 12 de Octubre (Madrid)) ; Martínez, Beatriz (Hospital Universitario de Getafe (Madrid)) ; Martínez-Salcedo, Eduardo (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Mas, María José (Hospital Universitari Joan XXIII de Tarragona) ; Mateo, Gonzalo (Hospital Universitario de Guadalajara) ; Mendez, Pilar (Hospital Materno-Infantil de Badajoz) ; Jimenez, Amparo Morant (Centro privado) ; Moreno, Sira (Hospital Virgen del Camino (Pamplona)) ; Mulas, Fernando (Instituto Valenciano de Neurociencias) ; Narbona, Juan (Clínica Universidad de Navarra) ; Nascimento, Andrés (Hospital Sant Joan de Déu (Manresa)) ; Nieto, Manuel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Nunes, Tania Fabiola (Hospital Sant Joan de Déu (Manresa)) ; Núñez, Núria (Hospital Universitari Vall d'Hebron) ; Obón, María (Hospital Universitari de Girona Doctor Josep Trueta) ; Onsurbe, Ignacio (Complejo Hospitalario Universitario de Albacete) ; Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Orts, Emilio (Hospital General Mancha Centro) ; Martinez, Francisco (Hospital Universitari Doctor Peset (València)) ; Parrilla, Rafael (Complejo Hospitalario de Jaén) ; Pascual Pascual, Samuel Ignacio (Hospital Universitario La Paz (Madrid)) ; Patiño, Ana (Complejo Hospitalario de Navarra) ; Pérez-Poyato, Maria (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Pérez-Dueñas, Belén (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Póo, Pilar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Puche, Eliodoro (Hospital Infantil de La Arrixaca) ; Ramos, Feliciano (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Roche, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Roldan, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ; Rosell Andreo, Jordi (Hospital Universitari Son Dureta (Palma de Mallorca, Balears)) ; Ruiz, Cesar (Hospital Costa del Sol (Marbella)) ; Ruiz-Falcó, María Luz (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Russi Delfraro, María Eugenia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Samarra, Jordi (Hospital General de Vic) ; Antonio, Victoria San (Hospital Clínico San Carlos (Madrid)) ; Sanchez, Ivan (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Sanmartin, Xavier (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Sans, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Santacana, Alfredo (Complejo Hospitalario Universitario Insular) ; Scholl-Bürgi, Sabine (Medizinische Universität Innsbruck) ; Serrano, Nuria (Althaia) ; Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Martin-Tamayo, Pilar (Complejo Hospitalario Universitario de Albacete) ; Tendero, Adrián (Hospital Universitario La Paz (Madrid)) ; Torrents, Jaime (Reference Laboratory) ; Tortosa, Diego (Hospital Infantil de La Arrixaca) ; Triviño, Emma (Catlab) ; Troncoso, Ledia (Hospital San Borja Arriaran) ; Turon-Viñas, E (Institut d'Investigació Biomèdica Sant Pau) ; Vázquez, Pilar (Hospital General Universitario Gregorio Marañón) ; Vázquez, Carlos (Complejo Hospitalario Universitario Insular) ; Velázquez, Ramón (Hospital Universitario La Paz (Madrid)) ; Ventura, Clara (Hospital Universitari Vall d'Hebron) ; Verdú, Alfonso (Hospital Virgen de la Salud (Toledo)) ; Vernet, Anna (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Vila, M. Tomás (Hospital Francesc De Borja) ; Villar, Cristina (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Universitat Autònoma de Barcelona
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. [...]
2019 - 10.1038/s41598-019-48385-w
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 11983  
4.
13 p, 1.5 MB Plasma lipid profiles discriminate bacterial from viral infection in febrile children / Wang, Xinzhu (Imperial College London) ; Nijman, Ruud Gerard (Imperial College London) ; Camuzeaux, Stephane (IRDB Building) ; Sands, Caroline (IRDB Building) ; Jackson, Heather R. (Imperial College London) ; Kaforou, Myrsini (Imperial College London) ; Emonts, Marieke (Great North Children's Hospital) ; Herberg, Jethro A. (Imperial College London) ; Maconochie, Ian (Imperial College NHS Healthcare Trust) ; Carrol, Enitan (Liverpool Health Partners) ; Paulus, Stéphane (Liverpool Health Partners) ; Zenz, Werner (Medical University of Graz) ; Van der Flier, Michiel (Radboud University Medical Center) ; de Groot, Ronald C.A. (Radboud University Medical Center) ; Martinon-Torres, Federico (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Schlapbach, Luregn (Queensland Children's Hospital) ; Pollard, AJ. (University of Oxford and the NIHR Oxford Biomedical Research Centre) ; Fink, Colin (University of Warwick) ; Kuijpers, T. W. (Emma Children's Hospital Academic Medical Center) ; Anderson, Suzanne T. B. (London School of Hygiene & Tropical Medicine) ; Lewis, Matthew R. (IRDB Building) ; Levin, Michael (Imperial College London) ; McClure, Myra (Imperial College London) ; Gormley, Stuart (Imperial College London) ; Hamilton, Shea (Imperial College London) ; Hourmat, Bernardo (Imperial College London) ; Hoggart, Clive (Imperial College London) ; Sancho Shimizu, Vanessa (Imperial College London) ; Wright, Victoria (Imperial College London) ; Abdulla, Amina F. (Imperial College London) ; Agapow, Paul Michael (Imperial College London) ; Bartlett, Maeve (Imperial College London) ; Bellos, Evangelos (Imperial College London) ; Eleftherohorinou, Hariklia (Imperial College London) ; Galassini, Rachel (Imperial College London) ; Inwald, David (Imperial College London) ; Mashbat, Meg (Imperial College London) ; Menikou, Stephanie (Imperial College London) ; Mustafa, Sobia (Imperial College London) ; Nadel, Simon (Imperial College London) ; Rahman, Rahmeen (Imperial College London) ; Thakker, Clare (Imperial College London) ; Coin, Lachlan (Imperial College London) ; Bokhandi, Sumit S. (Poole Hospital NHS Foundation Trust) ; Power, Sue (Poole Hospital NHS Foundation Trust) ; Barham, Heather (Poole Hospital NHS Foundation Trust) ; Pathan, Nazima (Cambridge University Hospitals NHS Trust) ; Ridout, Jenna (Cambridge University Hospitals NHS Trust) ; White, Deborah K. (Cambridge University Hospitals NHS Trust) ; Thurston, Sarah (Cambridge University Hospitals NHS Trust) ; Faust, Saul (University Hospital Southampton) ; Patel, Sanjay Valabh (University Hospital Southampton) ; McCorkell, Jenni (University Hospital Southampton) ; Davies, Patrick (Nottingham University Hospital NHS Trust) ; Crate, Lindsay (Nottingham University Hospital NHS Trust) ; Navarra, Helen (Nottingham University Hospital NHS Trust) ; Carter, Stephanie (Nottingham University Hospital NHS Trust) ; Ramaiah, Raghu (University Hospitals of Leicester NHS Trust) ; Patel, Rekha (University Hospitals of Leicester NHS Trust) ; Tuffrey, Catherine (Portsmouth Hospitals NHS Trust) ; Gribbin, Andrew (Portsmouth Hospitals NHS Trust) ; McCready, Sharon (Portsmouth Hospitals NHS Trust) ; Peters, Mark (Great Ormond Street Hospital for Children (Londres)) ; Hardy, Katie (Great Ormond Street Hospital for Children (Londres)) ; Standing, Fran (Great Ormond Street Hospital for Children (Londres)) ; O'Neill, Lauren (Great Ormond Street Hospital for Children (Londres)) ; Abelake, Eugenia (Great Ormond Street Hospital for Children (Londres)) ; Deep, Akash (King's College Hospital NHS Foundation Trust) ; Nsirim, Eniola (King's College Hospital NHS Foundation Trust) ; Willis, Louise (Oxford University Hospitals NHS Foundation Trust) ; Young, Zoe (Oxford University Hospitals NHS Foundation Trust) ; Royad, C. (Kettering General Hospital NHS Foundation Trust) ; White, Sonia (Kettering General Hospital NHS Foundation Trust) ; Fortune, Peter-Marc (Central Manchester NHS Trust) ; Hudnott, Phil (Central Manchester NHS Trust) ; Álvez González, Fernando (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Barral-Arca, Ruth (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Cebey-López, Miriam (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Curras-Tuala, MJ. (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; García, Natalia (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Vicente, Luisa García (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Gómez-Carballa, Alberto (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Gomez-Rial, Jose (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Grela Beiroa, Andrea (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Justicia-Grande, Antonio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Iglesias, Pilar Leboráns (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Martinez-Santos, Alba-Elena (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; MartinónTorres, Nazareth (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Sánchez, José María (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Morillo Gutiérrez, Beatriz (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Pérez, Belén Mosquera (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Pacheco, Pablo Obando (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Pardo-Seco, Jacobo (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Pischedda, Sara (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Rivero Calle, Irene (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Rodríguez-Tenreiro, Carmen (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Redondo Collazo, Lorenzo (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Ellacuriagal, Antonio Salas (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Serén Fernández, Sonia (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Silva, María Del Sol Porto (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Vega, Ana Karina (Universidade de Santiago de Compostela (USC)) ; Vilanova-Trillo, Lucía (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Salas, Antonio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Reyes, Susana Beatriz (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; León-León, María Cruz (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Mingorance, Álvaro Navarro (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Barrios, Xavier Gabaldó (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Oñate Vergara, Eider (Hospital de Donostia (Sant Sebastià, País Basc)) ; Concha-Torre, Andres (Hospital Universitario Central de Asturias) ; Vivanco, Ana (Hospital Universitario Central de Asturias) ; Fernández, Reyes (Hospital Universitario Central de Asturias) ; Giménez-Sánchez, Francisco (Complejo Hospitalario Torrecárdenas (Almeria)) ; Forte, Miguel Sánchez (Complejo Hospitalario Torrecárdenas (Almeria)) ; Rojo, Pablo (Hospital 12 de Octubre (Madrid)) ; Contreras, J. Ruiz (Hospital 12 de Octubre (Madrid)) ; Palacios, Alba (Hospital 12 de Octubre (Madrid)) ; Ibarrondo, Cristina Epalza (Hospital 12 de Octubre (Madrid)) ; Cooke, Elizabeth Fernández (Hospital 12 de Octubre (Madrid)) ; Navarro, Marisa (Hospital General Universitario Gregorio Marañón) ; Álvarez, Cristina Álvarez (Hospital General Universitario Gregorio Marañón) ; Lozano, María José (Hospital General Universitario Gregorio Marañón) ; Carreras, Eduardo (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Brió Sanagustín, Sonia (Institut d'Investigació Biomèdica Sant Pau) ; Neth, Olaf (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Padilla, Ma del Carmen Martínez (Complejo Hospitalario de Jaén) ; Tato, Luis Manuel Prieto (Hospital Universitario de Getafe (Madrid)) ; Guillén, Sara (Hospital Universitario de Getafe (Madrid)) ; Fernandez Silveira, Laura (Hospital Universitari i Politècnic La Fe (València)) ; Moreno, David (Hospital Regional Universitario Carlos Haya (Málaga)) ; van Furth, Marceline (Vrije Universiteit University Medical Center) ; Boeddha, Navin P. (Sophia Children's Hospital) ; Driessen, Gertjan Jan A. (Sophia Children's Hospital) ; Hazelzet, Jan (Sophia Children's Hospital) ; Pajkrt, Dasja (Emma Children's Hospital Academic Medical Center) ; Sanders, Elisabeth A. M. (Wilhelmina Children's Hospital) ; van de Beek, Diederik (University of Amsterdam) ; van der Ende, Arie (University of Amsterdam) ; Philipsen, H.L.A. (Vrije Universiteit University Medical Center) ; Adeel, Abdul O.A. (Kennemer Gasthuis) ; Breukels, Meike A. (Elkerliek Hospital) ; Brinkman, Daniëlle M.C. (Alrijne Hospital) ; de Korte, Carla C.M.M. (Beatrix Hospital) ; de Vries, Esther (Diakonessenhuis) ; de Waal, Wouter J. (Maasziekenhuis Pantein) ; Dekkers, Roel (Maasziekenhuis Pantein) ; Dings-Lammertink, Anouk (Gelre Hospitals) ; Doedens, Rienus A. (Martini Hospital) ; Donker, AlbertineE. (Maxima Medical Center) ; Dousma, Mieke (Gemini Hospital) ; Faber, Tina E. (Medical Center Leeuwarden) ; Gerrits, Gerardus Peter Jm M. (Canisius-Wilhelmina Hospital) ; Gerver, Jan A.M. (Rode Kruis Hospital) ; Heidema, Jojanneke (St. Antonius Hospital) ; Veen, J. Homan-van der (Deventer Hospital) ; Jacobs, Monique A.M. (Slingeland Hospital) ; Jansen, Nicolaas Johannes Georgius (Wilhelmina Children's Hospital) ; Kawczynski, Pawel (Refaja Hospital) ; Klucovska, Kristine (Bethesda Hospital) ; Kneyber, Martin Christiaan Jacques (Beatrix Children's hospital) ; Koopman-Keemink, Yvonne (Juliana Children's Hospital) ; Langenhorst, Veerle J. (Isala Hospital) ; Leusink, José (Bernhoven Hospital) ; Loza, Bettina F. (VieCuri Medical Center) ; Merth, Istvan T. (Ziekenhuisgroep Twente) ; Miedema, Carien J. (Catharina Hospital) ; Neeleman, Chris (Vrije Universiteit University Medical Center) ; Noordzij, Jeroen G. (Reinier de Graaf Gasthuis) ; Obihara, Charlie C.C. (ETZ Elisabeth) ; van Overbeek - van Gils, A. Lidy T. (Scheper Hospital) ; Poortman, Geriska H. (St. Jansdal Hospital) ; Potgieter, Steph T. (Laurentius Hospital) ; Potjewijd, Joke (Isala Diaconessenhuis) ; Rosias, Philippe P.R. (Zuyderland Medical Center) ; Sprong, Tom (Canisius-Wilhelmina Hospital) ; ten Tussher, Gavin W. (Westfriesgasthuis) ; Thio, Bernard J. (Medisch Spectrum Twente) ; Tramper-Stranders, Gerdien A. (St. Franciscus Gasthuis) ; van Deuren, M. (Vrije Universiteit University Medical Center) ; van der Meer, H. (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; van Kuppevelt, A.J.M. (Streekziekenhuis Koningin Beatrix) ; van Wermeskerken, A.M. (Flevo Hospital) ; Verwijs, W.A. (Zuwe Hofpoort Hospital) ; Wolfs, T.F.W. (Newcastle University) ; Agyeman, Philipp (University of Bern) ; Aebi, C. (University of Bern) ; Berger, C. (University Children's Hospital Zurich) ; Giannoni, E. (Lausanne University Hospital) ; Stocker, M. (Children's Hospital Lucerne) ; Posfay-Barbe, K.M. (Geneva University Hospitals) ; Heininger, U. (University of Basel Children's Hospital) ; Bernhard-Stirnemann, S. (Children's Hospital Aarau) ; Niederer-Loher, A. (Children's Hospital of Eastern Switzerland St. Gallen) ; Kahlert, C. (Children's Hospital of Eastern Switzerland St. Gallen) ; Hasters, P. (University Hospital Zurich (Suïssa)) ; Relly, C. (University Children's Hospital Zurich) ; Baer, W. (Children's Hospital Chur) ; Frederick, H. (Alder Hey Children's Hospital) ; Jennings, R. (Alder Hey Children's Hospital) ; Johnston, J. (Alder Hey Children's Hospital) ; Kenwright, R. (Alder Hey Children's Hospital) ; Pinnock, Elli (University of Warwick) ; Agbeko, Rachel (Imperial College NHS Healthcare Trust) ; Secka, Fatou (London School of Hygiene & Tropical Medicine) ; Bojang, Kalifa (London School of Hygiene & Tropical Medicine) ; Sarr, Isatou (London School of Hygiene & Tropical Medicine) ; Kebbeh, Ngange (London School of Hygiene & Tropical Medicine) ; Sey, Gibbi (London School of Hygiene & Tropical Medicine) ; Momodou, None ; khan, Saidy (London School of Hygiene & Tropical Medicine) ; Cole, Fatoumata (London School of Hygiene & Tropical Medicine) ; Thomas, Gilleh (London School of Hygiene & Tropical Medicine) ; Antonio, Martin (London School of Hygiene & Tropical Medicine) ; Klobassa, Daniela S. (University Medical Center Utrecht) ; Binder, Alexander (University Medical Center Utrecht) ; Schweintzger, Nina (University Medical Center Utrecht) ; Sagmeister, Manfred (University Medical Center Utrecht) ; Baumgart, Hinrich (Medical University Graz) ; Baumgartner, Markus (General Hospital of Steyr) ; Behrends, Uta (Technische Universität München (TUM)) ; Biebl, Ariane (Medical Faculty of the Johannes Kepler University) ; Birnbacher, Robert (LKH Villach) ; Blanke, Jan-Gerd (Hospital Ludmillenstift) ; Boelke, Carsten (Hospital for Children's and Youth Medicine. Oberschwabenklinik) ; Breuling, Kai (Technische Universität München (TUM)) ; Brunner, Jürgen (Medical University Innsbruck) ; Buller, Maria (Sana Hanse-Klinikum Wismar) ; Dahlem, Peter (Medical Center Coburg) ; Dietrich, Beate (University Medicine Rostock) ; Eber, Ernst (Medical University Graz) ; Elias, Johannes (University of Würzburg) ; Emhofer, Josef (General Hospital of Steyr) ; Etschmaier, Rosa (Medical University Graz) ; Farr, Sebastian (Orthopedic Hospital Speising) ; Girtler, Ylenia (Regional Hospital Bolzano) ; Grigorow, Irina (General Hospital Hochsteiermark/Leoben) ; Heimann, Konrad (RWTH Aachen) ; Ihm, Ulrike (Donauspital Vienna) ; Jaros, Zdenek (General Public Hospital) ; Kalhoff, Hermann (Pediatric Clinic Dortmund) ; Kaulfersch, Wilhelm (Klinikum Klagenfurt am Wörthersee) ; Kemen, Christoph (Catholic Children's Hospital Wilhelmstift) ; Klocker, Nina (Krankenhaus Dornbirn) ; Köster, Bernhard (Maerkische Kliniken) ; Kohlmaier, B. (Medical University Graz) ; Komini, Eleni (Schwarzwald-Baar-Hospital) ; Kramer, Lydia (Technische Universität München (TUM)) ; Neubert, Antje (University Hospital Erlangen (Alemanya)) ; Ortner, Daniel (Medical University of Salzburg) ; Pescollderungg, Lydia (Regional Hospital Bolzano) ; Pfurtscheller, Klaus (Medical University Graz) ; Reiter, Karl (Ludwig-Maximilians-Universitaet) ; Ristic, Goran (Mother and Child Health Care Institute of Serbia) ; Rödl, Siegfried (Medical University Graz) ; Sellner, Andrea (Medical University Graz) ; Sonnleitner, Astrid (Medical University Graz) ; Sperl, Matthias (Medical University Graz) ; Stelzl, Wolfgang (Landeskrankenhaus Feldkirch) ; Till, Holger Karl H. (Medical University Graz) ; Trobisch, Andreas (Medical University Graz) ; Vierzig, Anne (University of Cologne) ; Vogel, Ulrich (Medical University Graz) ; Weingarten, Christina (Department of Pediatrics and Adolescent Medicine Wilheminenspital) ; Welke, Stefanie (Municipal Hospital Karlsruhe) ; Wimmer, Andreas (Hospital of the Sisters of Mercy Ried) ; Wintergerst, Uwe (Hospital St. Josef) ; Wüller, Daniel (Christophorus Kliniken Coesfeld Clinic for Pediatrics) ; Zaunschirm, Andrew (Karl Landsteiner University of Health Sciences) ; Ziuraite, Ieva (Children's Hospital) ; Žukovskaja, Veslava (Children's Hospital) ; Universitat Autònoma de Barcelona
Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection are often non-specific, and there is no definitive test for the accurate diagnosis of infection. [...]
2019 - 10.1038/s41598-019-53721-1
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 17714  
5.
21 p, 11.5 MB Identification of constrained sequence elements across 239 primate genomes / Kuderna, Lukas F. K. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Ulirsch, Jacob C. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Rashid, Sabrina (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Ameen, Mohamed (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Sundaram, Laksshman (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Hickey, Glenn (University of California. Santa Cruz Genomics Institute) ; Cox, Anthony J. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Gao, Hong (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Kumar, Arvind (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Aguet, Francois (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; Christmas, Matthew J. (Uppsala University. Department of Medical Biochemistry and Microbiology) ; Clawson, Hiram (University of California. Santa Cruz Genomics Institute) ; Haeussler, Maximilian (University of California. Santa Cruz Genomics Institu) ; Janiak, Mareike C. (University of Salford. School of Science, Engineering and Environment) ; Kuhlwilm, Martin (University of Vienna. Department of Evolutionary Anthropology) ; Orkin, Joseph D. (Université de Montréal. Département d'Anthropologie) ; Bataillon, Thomas (Aarhus University. Bioinformatics Research Centre) ; Shivakumara Manu (Academy of Scientific and Innovative Research (Ghaziabad, Índia)) ; Valenzuela, Alejandro (Institut de Biologia Evolutiva (Barcelona)) ; Bergman, Juraj (Aarhus University. Bioinformatics Research Centre) ; Rouselle, Marjolaine (Aarhus University. Bioinformatics Research Centre) ; Silva, Felipe Ennes (Mamirauá Institute for Sustainable Development) ; Agueda Calpena, Lidia (Centre Nacional d'Anàlisi Genòmica (CNAG)) ; Blanc, Julie (Centre Nacional d'Anàlisi Genòmica (CNAG)) ; Gut, Marta (Centre Nacional d'Anàlisi Genòmica (CNAG)) ; de Vries, Dorien (University of Salford. School of Science, Engineering and Environment) ; Goodhead, Ian (University of Salford. School of Science, Engineering and Environment) ; Harris, R. Alan (Baylor College of Medicine. Department of Molecular and Human Genetics) ; Raveendran, Muthuswamy (Baylor College of Medicine. Department of Molecular and Human Genetics) ; Jensen, Axel (Uppsala University. Department of Ecology and Genetics) ; Chuma, Idriss S. (Tanzania National Parks) ; Horvath, Julie E. (University of North Carolina at Chapel Hill. Renaissance Computing Institute) ; Hvilsom, Christina (Copenhagen Zoo) ; Juan, David (Institut de Biologia Evolutiva (Barcelona)) ; Frandsen, Peter (Copenhagen Zoo) ; Schraiber, Joshua G. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ; de Melo, Fabiano R. (Universidade Federal de Viçosa) ; Bertuol, Fabrício (Universidade Federal do Amazonas. Departamento de Genética) ; Byrne, Hazel (University of Utah. Department of Anthropology) ; Sampaio, Iracilda (Universidade Federal do Pará (Brasil)) ; Pires Farias, Izeni (Universidade Federal do Amazonas. Departamento de Genética) ; Valsecchi, João (Comunidad de Manejo de Fauna Silvestre en la Amazonía y en Latinoamérica-ComFauna) ; Messias, Malu (Universidade Federal de Rondônia) ; da Silva, Maria N. F. (Instituto Nacional de Pesquisas da Amazônia) ; Trivedi, Mihir (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ; Rossi, Rogerio (Universidade Federal do Mato Grosso. Instituto de Biociências) ; Hrbek, Tomas (Trinity University. Department of Biology) ; Andriaholinirina, Nicole (University of Mahajanga. Faculty of Science, Technology and Environment) ; Rabarivola, Clément J. (University of Mahajanga. Faculty of Science, Technology and Environment) ; Zaramody, Alphonse (University of Mahajanga. Faculty of Science, Technology and Environment) ; Jolly, Clifford J. (New York University .Department of Anthropology) ; Phillips-Conroy, Jane (Washington University School of Medicine in St Louis. Department of Neuroscience) ; Wilkerson, Gregory (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ; Abbee, C. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ; Simmons, Joe H. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ; Fernandez-Duque, Eduardo (Yale University. Department of Anthropology) ; Kanthaswamy, Sree (University of California. California National Primate Research Center) ; Shiferaw, Fekadu (The Carter Center Ethiopia) ; Wu, Dong-Dong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ; Zhou, Long (Zhejiang University School of Medicine. Center for Evolutionary and Organismal Biology) ; Shao, Yong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ; Zhang, Guojie (Zhejiang University Medical Center) ; Keyyu, Julius D. (Tanzania Wildlife Research Institute) ; Knauf, Sascha (Justus Liebig University. Faculty of Veterinary Medicine) ; Le, Minh D. (Vietnam National University. Department of Environmental Ecology) ; Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont) ; Merker, Stefan epartment of Environmental Ecology (State Museum of Natural History Stuttgart. Department of Zoology) ; Navarro, Arcadi, 1969- (Institut de Biologia Evolutiva (Barcelona)) ; Nadler, Tilo (Cuc Phuong Commune) ; Khor, Chiea Chuen (Genome Institute of Singapore) ; Lee, Jessica (Mandai Nature) ; Tan, Patrick (Duke-NUS Medical School) ; Lim, Weng Khong (SingHealth Duke-NUS Genomic Medicine Centre) ; Kitchener, Andrew C. (School of Geosciences) ; Zinner, Dietmar (Leibniz ScienceCampus Primate Cognition) ; Gut, Ivo (Centre Nacional d'Anàlisi Genòmica (CNAG)) ; Melin, Amanda D. (University of Calgary. Alberta Children's Hospital Research Institute) ; Guschanski, Katerina (University of Edinburgh. School of Biological Sciences) ; Schierup, Mikkel Heide (Aarhus University. Bioinformatics Research Centre) ; Beck, Robin (University of Salford. School of Science, Engineering and Environment) ; Karakikes, Ioannis (Stanford University. Department of Cardiothoracic Surgery) ; Wang, Kevin C. (Veterans Affairs Palo Alto Healthcare System) ; Umapathy, Govindhaswamy (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ; Roos, Christian (Leibniz Institute for Primate Research. German Primate Center) ; Boubli, Jean (University of Salford. School of Science, Engineering and Environment) ; Siepel, Adam (Simons Center for Quantitative Biology. Cold Spring Harbor Laboratory) ; Kundaje, Anshul (Stanford University. Department of Genetics) ; Paten, Benedict (University of California. Santa Cruz Genomics Institute) ; Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry and Microbiology) ; Rogers, Jeffrey (Baylor College of Medicine. Department of Molecular and Human Genetics) ; Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Farh, Kyle Kai-How (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units))
Noncoding DNA is central to our understanding of human gene regulation and complex diseases and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome. [...]
2023 - 10.1038/s41586-023-06798-8
Nature, Published online nov. 2023  
6.
15 p, 1.7 MB Identification of regulatory variants associated with genetic susceptibility to meningococcal disease / Borghini, Lisa (Genome Institute of Singapore) ; Png, Eileen (Genome Institute of Singapore) ; Binder, Alexander (Medical University of Graz) ; Wright, Victoria (Imperial College London) ; Pinnock, Ellie (University of Warwick) ; de Groot, Ronald (Radboud University Medical Center) ; Hazelzet, Jan (Erasmus Medical Center (Rotterdam, Països Baixos)) ; Emonts, Marieke (Great North Children's Hospital) ; van der Flier, Michiel (Radboud University Medical Center) ; Schlapbach, Luregn J. (University of Bern) ; Anderson, Suzanne (Medical Research Council Unit Gambia) ; Secka, Fatou (Medical Research Council Unit Gambia) ; Salas, Antonio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Fink, Colin (University of Warwick) ; Carrol, Enitan D. (University of Liverpool) ; Pollard, Andrew J. (University of Oxford and the NIHR Oxford Biomedical Research Centre) ; Coin, Lachlan J. (The University of Queensland) ; Kuijpers, Taco W. (Emma Children's Hospital Academic Medical Center) ; Martinon-Torres, Federico (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Zenz, Werner (Medical University of Graz) ; Levin, Michael (Imperial College London) ; Hibberd, Martin L. (London School of Hygiene & Tropical Medicine) ; Davila, Sonia (Duke-NUS Medical School) ; Gormley, Stuart (Imperial College London) ; Hamilton, Shea (Imperial College London) ; Herberg, Jethro (Imperial College London) ; Hourmat, Bernardo (Imperial College London) ; Hoggart, Clive (Imperial College London) ; Kaforou, Myrsini (Imperial College London) ; Sancho-Shimizu, Vanessa (Imperial College London) ; Abdulla, Amina (Imperial College London) ; Agapow, Paul (Imperial College London) ; Bartlett, Maeve (Imperial College London) ; Bellos, Evangelos (Imperial College London) ; Eleftherohorinou, Hariklia (Imperial College London) ; Galassini, Rachel (Imperial College London) ; Inwald, David (Imperial College London) ; Mashbat, Meg (Imperial College London) ; Menikou, Stefanie (Imperial College London) ; Mustafa, Sobia (Imperial College London) ; Nadel, Simon (Imperial College London) ; Rahman, Rahmeen (Imperial College London) ; Thakker, Clare (Imperial College London) ; Bokhandi, S. (Poole Hospital NHS Foundation Trust) ; Power, Sue (Poole Hospital NHS Foundation Trust) ; Barham, Heather (Poole Hospital NHS Foundation Trust) ; Pathan, N. (Cambridge University Hospitals NHS Trust) ; Ridout, Jenna (Cambridge University Hospitals NHS Trust) ; White, Deborah (Cambridge University Hospitals NHS Trust) ; Thurston, Sarah (Cambridge University Hospitals NHS Trust) ; Faust, S. (University Hospital Southampton) ; Patel, S. (University Hospital Southampton) ; McCorkell, Jenni (University Hospital Southampton) ; Davies, P. (Nottingham University Hospital NHS Trust) ; Cratev, Lindsey (Nottingham University Hospital NHS Trust) ; Navarra, Helen (Nottingham University Hospital NHS Trust) ; Carter, Stephanie (Nottingham University Hospital NHS Trust) ; Ramaiah, R. (University Hospitals of Leicester NHS Trust) ; Patel, Rekha (University Hospitals of Leicester NHS Trust) ; Tuffrey, Catherine (Portsmouth Hospitals NHS Trust) ; Gribbin, Andrew (Portsmouth Hospitals NHS Trust) ; McCready, Sharon (Portsmouth Hospitals NHS Trust) ; Peters, Mark (Portsmouth Hospitals NHS Trust) ; Hardy, Katie (Portsmouth Hospitals NHS Trust) ; Standing, Fran (Portsmouth Hospitals NHS Trust) ; O'Neill, Lauren (Portsmouth Hospitals NHS Trust) ; Abelake, Eugenia (Portsmouth Hospitals NHS Trust) ; Deep, Akash (King's College Hospital NHS Foundation Trust) ; Nsirim, Eniola (King's College Hospital NHS Foundation Trust) ; Willis, Louise (University of Oxford) ; Young, Zoe (University of Oxford) ; Royad, C. (Kettering General Hospital NHS Foundation Trust) ; White, Sonia (Kettering General Hospital NHS Foundation Trust) ; Fortune, P.M. (Central Manchester NHS Trust) ; Hudnott, Phil (Central Manchester NHS Trust) ; González, Férnando Álvez (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Barral-Arca, Ruth (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Cebey-López, Miriam (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Curras-Tuala, María José (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; García, Natalia (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Vicente, Luisa García (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Gómez-Carballa, Alberto (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Rial, José Gómez (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Beiroa, Andrea Grela (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Grande, Antonio Justicia (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Iglesias, Pilar Leboráns (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Santos, Alaba Elena Martínez (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Martinón-Torres, Nazareth (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Sánchez, José María Martinón (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Pérez, Belén Mosquera (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Pacheco, Pablo Obando (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Pardo-Seco, Jacobo (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Pischedda, Sara (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Calle, Irene Rivero (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Rodríguez-Tenreiro, Carmen (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Redondo-Collazo, Lorenzo (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Fernández, Sonia Serén (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Silva, María del Sol Porto (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Vega, Ana (Universidade de Santiago de Compostela (USC)) ; Reyes, Susana Beatriz (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; León, María Cruz León (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Mingorance, Álvaro Navarro (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Barrios, Xavier Gabaldó (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ; Vergara, Eider Oñate (Hospital de Donostia (Sant Sebastià, País Basc)) ; Torre, Andrés Concha (Hospital Universitario Central de Asturias) ; Vivanco, Ana (Hospital Universitario Central de Asturias) ; Fernández, Reyes (Hospital Universitario Central de Asturias) ; Sánchez, Francisco Giménez (Complejo Hospitalario Torrecárdenas (Almeria)) ; Forte, Miguel Sánchez (Complejo Hospitalario Torrecárdenas (Almeria)) ; Rojo, Pablo (Hospital 12 de Octubre (Madrid)) ; Contreras, J.Ruiz (Hospital 12 de Octubre (Madrid)) ; Palacios, Alba (Hospital 12 de Octubre (Madrid)) ; Navarro, Marisa (Hospital General Universitario Gregorio Marañón) ; Álvarez, Cristina Álvarez (Hospital General Universitario Gregorio Marañón) ; Lozano, María José (Hospital General Universitario Gregorio Marañón) ; Carreras, Eduardo (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Brió Sanagustín, Sonia (Institut d'Investigació Biomèdica Sant Pau) ; Neth, Olaf (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Padilla, Ma del Carmen Martínez (Complejo Hospitalario de Jaén) ; Tato, Luis Manuel Prieto (Hospital Universitario de Getafe (Madrid)) ; Guillén, Sara (Hospital Universitario de Getafe (Madrid)) ; Silveira, Laura Fernández (Hospital Universitari i Politècnic La Fe (València)) ; Moreno, David (Hospital Regional Universitario Carlos Haya (Málaga)) ; van Furth, A.M.Tutu (Vrije Universiteit University Medical Center) ; van der Flier, Michiel (Radboud University Medical Center) ; Boeddha, N.P. (University Medical Center) ; Driessen, G.J.A. (University Medical Center) ; Pajkrt, D. (Emma Children's Hospital Academic Medical Center) ; Sanders, E.A.M. (University Medical Center Utrecht - Wilhelmina Children's Hospital) ; van de Beek, D. (University of Amsterdam) ; van der Ende, A. (University of Amsterdam) ; Philipsen, H.L.A. (Radboud University Medical Center) ; Adeel, A.O.A. (Kennemer Gasthuis) ; Breukels, M.A. (Elkerliek Hospital) ; Brinkman, Daniëlle M.C (Alrijne Hospital) ; de Korte, C.C.M.M. (Beatrix Hospital) ; de Vries, E. (Jeroen Bosch Hospital) ; de Waal, W.J. (Diakonessenhuis) ; Dekkers, R. (Maasziekenhuis Pantein) ; Dings-Lammertink, A. (Gelre Hospitals) ; Doedens, R.A. (Martini Hospital) ; Donker, A.E. (Maxima Medical Center) ; Dousma, M. (Gemini Hospital) ; Faber, T.E. (Medical Center Leeuwarden) ; Gerrits, G.P.J.M. (Canisius-Wilhelmina Hospital) ; Gerver, J.A.M. (Rode Kruis Hospital) ; Heidema, J. (St. Antonius Hospital) ; Homan-van der Veen, J. (Deventer Hospital) ; Jacobs, M.A.M. (Slingeland Hospital) ; Jansen, N.J.G. (University Medical Center Utrecht - Wilhelmina Children's Hospital) ; Kawczynski, P. (Refaja Hospital) ; Klucovska, K. (Bethesda Hospital) ; Kneyber, M.C.J. (University Medical Center Groningen. Beatrix Children's hospital) ; Koopman-Keemink, Y. (Haga Hospital - Juliana Children's Hospital) ; Langenhorst, V.J. (Isala Hospital) ; Leusink, J. (Bernhoven Hospital) ; Loza, B.F. (VieCuri Medical Center) ; Merth, I.T. (Ziekenhuisgroep Twente) ; Miedema, C.J. (Catharina Hospital) ; Neeleman, C. (Radboud University Medical Center) ; Noordzij, J.G. (Reinier de Graaf Gasthuis) ; Obihara, C.C. (ETZ Elisabeth) ; van Overbeek-van Gils, A.L.T. (Scheper Hospital) ; Poortman, G.H. (St. Jansdal Hospital) ; Potgieter, S.T. (Laurentius Hospital) ; Potjewijd, J. (Isala Diaconessenhuis) ; Rosias, P.P.R. (Zuyderland Medical Center) ; Sprong, T. (Canisius-Wilhelmina Hospital) ; ten Tussher, G.W. (Westfriesgasthuis) ; Thio, B.J. (Medisch Spectrum Twente) ; Tramper-Stranders, G.A. (St. Franciscus Gasthuis) ; van Deuren, M. (Radboud University Medical Center) ; van der Meer, H. (Vrije Universiteit University Medical Center) ; van Kuppevelt, A.J.M. (Streekziekenhuis Koningin Beatrix) ; van Wermeskerken, A.M. (Flevo Hospital) ; Verwijs, W.A. (Zuwe Hofpoort Hospital) ; Wolfs, T.F.W. (University Medical Center Utrecht - Wilhelmina Children's Hospital) ; Agyeman, Philipp (University of Bern) ; Aebi, Christoph (University of Bern) ; Berger, Christoph (University Children's Hospital Zurich) ; Giannoni, Eric (Infectious Diseases Service. Lausanne University Hospital) ; Stocker, Martin (Department of Pediatrics. Children's Hospital Lucerne) ; Posfay-Barbe, Klara M. (Geneva University Hospitals) ; Heininger, Ulrich (Universitäts-Kinderspital beider Basel. Abt für Infektiologie) ; Bernhard-Stirnemann, Sara (Children's Hospital Aarau) ; Niederer-Loher, A. (Children's Hospital of Eastern Switzerland St. Gallen) ; Kahlert, Christian (Children's Hospital of Eastern Switzerland St. Gallen) ; Hasters, Paul (University Hospital Zurich (Suïssa)) ; Relly, Christa (University Children's Hospital Zurich) ; Baer, Walter (Children's Hospital Chur) ; Paulus, Stéphane (Alder Hey Children's Hospital) ; Frederick, Hannah (Alder Hey Children's Hospital) ; Jennings, Rebecca (Alder Hey Children's Hospital) ; Johnston, Joanne (Alder Hey Children's Hospital) ; Kenwright, Rhian (Alder Hey Children's Hospital) ; Agbeko, Rachel (Great North Children's Hospital) ; Bojang, Kalifa (Medical Research Council Unit Gambia) ; Sarr, Isatou (Medical Research Council Unit Gambia) ; Kebbeh, Ngane (Medical Research Council Unit Gambia) ; Sey, Gibbi (Medical Research Council Unit Gambia) ; Saidykhan, Momodou (Medical Research Council Unit Gambia) ; Cole, Fatoumatta (Medical Research Council Unit Gambia) ; Thomas, Gilleh (Medical Research Council Unit Gambia) ; Antonio, Martin (Medical Research Council Unit Gambia) ; Walcher, Wolfgang (Medical University of Graz) ; Geishofer, Gotho (Medical University of Graz) ; Klobassa, Daniela (Medical University of Graz) ; Martin, Müller (Medical University of Graz) ; Pfurtscheller, Klaus (Medical University of Graz) ; Reiter, Karl (Kinderklinik der LMU München am Dr. von Haunerschen Kinderspital) ; Rödl, Siegfried (Medical University of Graz) ; Zobel, Gerfried (Medical University of Graz) ; Zöhrer, Bettina (Medical University of Graz) ; Töpke, Bärbel (Ostalb-Klinikum) ; Fucik, Peter (Krankenhaus Amstetten) ; Gabriel, Markwart (Klinikum Aschaffenburg) ; Penzien, Johann M. (Zentralklinikum Kinderkliniken) ; Diab, Gedeon (Kreiskrankenhaus Bad Hersfeld) ; Miething, Robert (Diakonie-Krankenhaus) ; Deeg, K.H. (Klinikum Bamberg) ; Hammer, Jürg (Universitäts-Kinderspital beider Basel) ; Heininger, Ulrich (Universitäts-Kinderspital beider Basel) ; Varnholt, Verena (Uni-Klinikum Charité) ; Schmidt, Andreas (St.-Agnes-Hospital) ; Bindl, Lutz (Rheinische Friedrich-Wilhelms-Universität) ; Sillaber, Ursula (Landeskrankenhaus Bregenz. Abt für Innere Medizin) ; Huemer, Christian (Landeskrankenhaus Bregenz. Abt für Kinderheilkunde) ; Meier, Primrose (Zentralkrankenhaus Links d. Weser) ; Simic-Schleicher, G. (Zentralkrankenhaus Bremen-Nord) ; Markart, Markus (Ospedale di Bressanone) ; Pfau, Eberhard (DRK-Krankenhaus Chemnitz-Rabenstein) ; Broede, Hans (Klinikum Lippe-Detmold GmbH) ; Ausserer, Bernd (Krankenhaus Dornbirn) ; Kalhoff, Hermann (Städt. Kliniken Dortmund) ; Arpe, Volker (St. Marien-Hospital Düren-Birkesdorf) ; Schweitzer-Krantz, Susanne (Evangelisches Krankenhaus) ; Kasper, Johannes-Martin (St. Georg Klinikum Eisenach gGmbH) ; Loranth, Kathrin (Krankenhaus der Barmherzigen Brüder) ; Bittrich, Hans J. (Helios Klinikum Erfurt) ; Simma, Burkhard (Landeskrankenhaus Feldkirch) ; Klinge, Jens (Klinikum Fürth) ; Fedlmaier, Michael (Klinikum Garmisch-Partenkirchen) ; Weigand, Nicola (Klinikum Justus-Liebig-Uni-O) ; Herting, Egbert (Georg-August Universitäts-Kinderklinik) ; Grube, Regina (University Klinik für Neurologie) ; Fusch, Christoph (Klinikum d. Ernst-Moritz-Arndt-Universität) ; Gruber, Alois (Krankenhaus der Schulschwestern Grieskirchen) ; Schimmel, Ulf (Allg. Krankenhaus Hagen GmbH) ; Knaufer-Schiefer, Suzanne (Ohrekreis-Klinikum) ; Lässig, Wolfgang (Städt. Krankenhaus Martha-Maria Halle-Dölau gGmbH) ; Hennenberger, Axel (Kinderkrankenhaus Wilhelmstift) ; von der Wense, Axel (Altonaer Kinderkrankenhaus) ; Tillmann, Roland (Klinikum Kreis Herford) ; Schwarick, Jürgen (Kreiskrankenhaus Herzberg) ; Sitzmann, Friedrich C. (University Klinik für Kinder- und Jugendmedizin) ; Streif, Werner (University Klinik für Kinder- und Jugendheilkunde Innsbruck) ; Müller, Herbert (Klinik Robert-Weixler-Strasse) ; Kurnik, Peter (Landeskrankenhaus Klagenfurt) ; Groneck, Peter (Kinderklinik der Stadt Köln) ; Weiss, Ute (Achenbach-Kreiskrankenhaus) ; Gröblacher-Roth, Helene (Landeskrankenhaus Krems a. d. Donau) ; Bensch, Jürgen (Vinzentius-Krankenhaus) ; Moser, Reinhard (Landeskrankenhaus Leoben) ; Schwarz, Rudolf (Landes-Kinderklinik Linz) ; Lenz, Kurt (Konventhospital der Barmherzigen Brüder) ; Hofmann, Thomas (Evangelisches Krankenhaus) ; Göpel, Wolfgang (Med. Universität zu Lübeck) ; Schulz, Dietrich (Städtisches Klinikum Lüneburg) ; Berger, Thomas (Kantonspital Luzern) ; Hauser, Erwin (Landeskrankenhaus Mödling) ; Förster, Kai Martin (Städt. Krankenhaus Harlaching) ; Peters, Jochen (Kinderklinik der TU München) ; Nicolai, T homas (Kinderklinik im Dr. v. Haunerschen Kinderspital) ; Kumlien, Björn. (Kinderklinik des Dritten Ordens) ; Beckmann, Regina (Dietrich-Bonhoeffer-Klinikum) ; Seitz, Christiane (FEK-Friedrich-Ebert-Krankenhaus. Neumünster GmbH) ; Hüseman, D. (Ruppiner Kliniken GmbH) ; Schürmann, Roland (Städt. Kliniken Neuss Lukaskrankenhaus GmbH) ; Ta, Van Hop (Evangelisches Krankenhaus) ; Weikmann, Eckart (Landeskrankenhaus Oberwart) ; Evert, W. (Städt. Kliniken Offenbach) ; Hautz, Jürgen (Klinikum Offenburg) ; Seidenberg, Jürgen (Elisabeth-Kinderkrankenhaus) ; Wocko, Lucia (Krankenhaus Oranienburg) ; Luigs, Petra (St.Vincenz-Krankenhaus Frauen- u. Kinderklinik) ; Reiter, Hans-Ludwig (Klinik für Kinder und Jugendliche am Städtischen Klinikum) ; Quietzach, J. (Vogtland-Klinikum Plauen GmbH) ; König, Michael (Oberschwaben Klinik gGmbH) ; Herrmann, Johanna (Kreiskrankenhaus Rendsburg) ; Mitter, Horst (Krankenhaus der Barmherzigen Schwestern Ried) ; Seidler, Ekkehard (Kreiskrankenhaus Obergöltzsch-Rodewisch) ; Maak, Bernhard (Thüringen-Klinik "Georgius Agricola" gGmbH) ; Sperl, Wolfgang (Landeskrankenanstalten Salzburg) ; Zwiauer, Karl (Landesklinikum Sankt Pölten) ; Meissl, Manfred (Landeskrankenhaus Schärding) ; Koch, Reinhard (Leopoldina-Krankenhaus) ; Cremer, Manfred (DRK-Kinderklinik Siegen) ; Breuer, H.A. (Städt. Klinikum Solingen) ; Görke, W. (Johanniter Kinderklinik) ; Nossal, Robert (Olga Hospital Stuttgart) ; Pernice, Walter (Kreiskrankenhaus Torgau) ; Brangenberg, alf. (Klinikum Traunstein) ; Salzer, Hans R. (Landeskrankenhaus Tulln) ; Koch, Hartmut (St. Marien-Hospital) ; Schaller, Gerhard (Landeskrankenhaus Villach) ; Paky, Franz (Landeskrankenhaus Vöcklabruck) ; Straßer, Friedrich (Klinikum Weiden) ; Eitelberger, Franz (Krankenhaus der Barmherzigen Schwestern v. heiligen Kreuz) ; Sontheimer, D. (Harz-Klinikum Wernigerode GmbH) ; Lischka, Andreas (Wilhelminenspital Wien) ; Kronberger, Martina (St. Anna Kinderspital) ; Dilch, Alfred (Gottfried von Preyersches Kinderspital der Stadt Wien) ; Scheibenpflug, Christian (Donauspital im SMZ-Ost der Stadt Wien) ; Bruckner, Robert (Krankenhaus Wiener Neustadt) ; Mahler, Klaus (St. Elisabeth Krankenhaus) ; Runge, Klaus (Zentrum für Kinder- und Jugendmedizin) ; Kunze, Wolfgang (Krankenhaus Muldentalkreis Wurzen) ; Schermann, Peter (Krankenhaus Zwettl) ; Universitat Autònoma de Barcelona
Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. [...]
2019 - 10.1038/s41598-019-43292-6
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 6966  
7.
15 p, 694.5 KB Outcomes of SARS-CoV-2 infection in Ph-neg chronic myeloproliferative neoplasms : results from the EPICOVIDEHA registry / Marchetti, Monia (Azienda Ospedaliera Nazionale) ; Salmanton-García, Jon (University of Cologne, Cologne, Germany) ; El-Ashwah, Shaimaa (Mansoura University. Oncology Center) ; Verga, Luisa (Università Milano-Bicocca) ; Itri, Federico (San Luigi Gonzaga Hospital-Orbassano, Orbassano, Italy) ; Ráčil, Zdeněk (Institute of Hematology and Blood Transfusion, Prague, Czech Republic) ; Dávila-Valls, Julio (Hospital Nuestra Señora de Sonsoles (Àvila)) ; Martín-Pérez, Sonia (Hospital Nuestra Señora de Sonsoles (Àvila)) ; Van Doesum, Jaap (University Medical Center Groningen, The Netherlands) ; Passamonti, Francesco (University Insubria, Varese, Italy) ; Abu-Zeinah, Ghaith (Division of Hematology and Oncology, Weill Cornell Medicine, New York) ; Farina, Francesca (IRCCS Ospedale San Raffaele, Milan, Italy) ; López-García, Alberto (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Dragonetti, Giulia (Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome) ; Cattaneo, Chiara (Hematology Unit, ASST-Spedali Civili, Brescia, Italy) ; Gomes Da Silva, Maria (Portuguese Institute of Oncology, Lisbon, Portugal) ; Bilgin, Yavuz M. (Department of Internal Medicine, ADRZ, Goes, The Netherlands) ; Žák, Pavel (University Hospital Hradec Kralove (República Txeca)) ; Petzer, Verena (Medical University of Innsbruck, Austria) ; Glenthøj, Andreas (Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark) ; Espigado, Ildefonso (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Buquicchio, Caterina (Ospedale Dimiccoli Barletta, Italy) ; Bonuomo, Valentina (University of Verona, Italy) ; Prezioso, Lucia (Hospital University of Parma, Italy) ; Meers, Stef (AZ KLINA, Brasschaat, Belgium) ; Duarte, Rafael (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Bergantim, Rui ; Jakšić, Ozren ; Čolović, Natasha ; Blennow, Ola ; Cernan, Martin ; Schönlein, Martin ; Samarkos, Michail ; Mitra, Maria Enza ; Magliano, Gabriele ; Maertens, Johan ; Ledoux, Marie-Pierre ; Jiménez, Moraima (Hospital Universitari Vall d'Hebron) ; Demirkan, Fatih ; Collins, Graham ; Cabirta, Alba (Hospital Universitari Vall d'Hebron) ; Gräfe, Stefanie K. ; Nordlander, Anna ; Wolf, Dominik ; Arellano, Elena ; Cordoba, Raul ; Hanakova, Michaela ; Zambrotta, Giovanni ; Nunes Rodrigues, Raquel ; Limberti, Giulia ; Marchesi, Francesco ; Cornely, Oliver A. ; Pagano, Livio ; Universitat Autònoma de Barcelona
Patients with Philadelphia-negative chronic myeloproliferative neoplasms (MPN) typically incur high rates of infections and both drugs and comorbidities may modulate infection risk. The present study aims to assess the effect of immunosuppressive agents on clinical outcomes of MPN patients affected by the coronavirus disease 2019 (COVID-19). [...]
2023 - 10.1177/20406207231154706
Therapeutic Advances in Hematology, Vol. 14 (march 2023)  
8.
16 p, 395.8 KB Imperatives and their interaction with VP-ellipsis in Spanish / Silva, María Florencia (Universidad de Buenos Aires)
In this squib, I focus on the interaction between imperative formation and head stranding ellipsis in Spanish, with the aim of reassessing Martins' (1994) generalization that head movement from V to the polarity-encoding head Σ is a necessary condition for licensing predicate ellipsis. [...]
2023 - 10.5565/rev/isogloss.262
Isogloss, Vol. 9 Núm. 1 (2023) , p. 1-16 (Articles)  
9.
18 p, 2.3 MB Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes / Pfrengle, Saskia (University of Tübingen. Institute of Evolutionary Medicine) ; Neukamm, Judith (University of Tübingen. Institute for Archaeological Sciences) ; Guellil, Meriam (University of Tartu. Estonian Biocentre, Institute of Genomics) ; Keller, Marcel (University of Tartu. Institute of Genomics) ; Molak, Martyna (University of Warsaw. Centre of New Technologies) ; Avanzi, Charlotte (Colorado State University. Department of Microbiology, Immunology and Pathology) ; Kushniarevich, Alena (University of Tartu. Institute of Genomics) ; Montes, Núria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Neumann, Gunnar U. (Max Planck Institute for the Science of Human History) ; Reiter, Ella (University of Tübingen. Institute for Archaeological Sciences) ; Tukhbatova, Rezeda I. (Max Planck Institute for the Science of Human History) ; Berezina, Nataliya Y. (Moscow State University. Research Institute and Museum of Anthropology) ; Buzhilova, Alexandra P. (Moscow State University. Research Institute and Museum of Anthropology) ; Korobov, Dmitry S. (Russian Academy of Sciences. Institute of Archaeology) ; Suppersberger Hamre, Stian (University of Bergen. Department of Archaeology, History, Cultural studies and religion) ; Matos, Vitor M. J. (University of Coimbra. Department of Life Sciences) ; Ferreira, Maria T. (Universidad de León. Departamento de Biodiversidad y Gestión Ambiental) ; González-Garrido, Laura (Universidad de León. Departamento de Biodiversidad y Gestión Ambiental) ; Wasterlain, Sofia N. (University of Coimbra. Department of Life Sciences) ; Lopes, Célia (University of Coimbra. Department of Life Sciences) ; Santos, Ana Luisa (University of Coimbra. Department of Life Sciences) ; Antunes-Ferreira, Nathalie (Instituto Universitário Egas Moniz) ; Duarte, Vitória (University of Coimbra. Department of Life Sciences) ; Silva, Ana Maria (University of Coimbra. Department of Life Sciences) ; Melo, Linda (University of Coimbra. Department of Life Sciences) ; Sarkic, Natasa (OSTEO Research) ; Saag, Lehti (University of Tartu. Institute of Genomics) ; Tambets, Kristiina (University of Tartu. Institute of Genomics) ; Busso, Philippe (Ecole Polytechnique Fédérale de Lausanne. Global Health Institute) ; Cole, Stewart T. (Ecole Polytechnique Fédérale de Lausanne. Global Health Institute) ; Avlasovich, Alexei (Mogilev State A. Kuleshov University. Department of Archeology, History of Belarus and Special Historical Disciplines) ; Roberts, Charlotte A. (Durham University. Department of Archaeology) ; Sheridan, Alison (National Museums Scotland. Department of Scottish History and Archaeology) ; Cessford, Craig (University of Cambridge. Department of Archaeology) ; Robb, John (University of Cambridge. Department of Archaeology) ; Krause, Johannes (University of Tübingen. Institute for Archaeological Sciences) ; Scheib, Christiana L. (University of Cambridge. St John's College) ; Inskip, Sarah A. (University of Leicester. School of Archaeology and Ancient History) ; Schuenemann, Verena J. (University of Tübingen. Senckenberg Centre for Human Evolution and Paleoenvironments)
Hansen's disease (leprosy), widespread in medieval Europe, is today mainly prevalent in tropical and subtropical regions with around 200,000 new cases reported annually. Despite its long history and appearance in historical records, its origins and past dissemination patterns are still widely unknown. [...]
2021 - 10.1186/s12915-021-01120-2
BMC biology, Vol. 19 (2021) , art. 220  
10.
12 p, 770.4 KB COVID-19 in adult acute myeloid leukemia patients : a long-term follow-up study from the European Hematology Association survey (EPICOVIDEHA) / Marchesi, Francesco (IRCCS Regina Elena National Cancer Institute) ; Salmanton-García, Jon (University of Cologne) ; Emarah, Ziad (Mansoura University) ; Piukovics, Klára (Medicine University of Szeged) ; Nucci, Marcio (Federal University of Rio de Janeiro) ; López-García, Alberto (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Rácil, Zdenék (Institute of Hematology and Blood Transfusion) ; Farina, Francesca (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ; Popova, Marina (Pavlov University) ; Zompi, Sofia (AOU Citta' della Salute e della Scienza) ; Audisio, Ernesta (AOU Citta' della Salute e della Scienza) ; Ledoux, Marie-Pierre (Institut de Cancérologie Strasbourg Europe) ; Verga, Luisa (Università Milano-Bicocca) ; Weinbergerová, Barbora (University Hospital Brno (República Txeca)) ; Szotkovski, Tomas (University Hospital Olomouc (Olomouc, República Txeca)) ; Da Silva, Maria Gomes (Portuguese Institute of Oncology) ; Fracchiolla, Nicola (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; De Jonge, Nick (Amsterdam UMC) ; Collins, Graham (Oxford University Hospitals) ; Marchetti, Monia (Azienda Ospedaliera Nazionale "SS. Antonio e Biagio e Cesare Arrigo") ; Magliano, Gabriele (ASST Grande Ospedale Metropolitano Niguarda) ; Garcia-Vidal, Carolina (Universitat de Barcelona) ; Biernat, Monika M. (Wroclaw Medical University) ; Van Doesum, Jaap (University Medical Center Groningen) ; Machado, Marina (Hospital General Universitario Gregorio Marañón) ; Demirkan, Fatih (Dokuz Eylul University) ; Al-Khabori, Murtadha (Sultan Qaboos University Hospital) ; Žák, Pavel (University Hospital Hradec Kralove (República Txeca)) ; Víšek, Benjamín (University Hospital Hradec Kralove (República Txeca)) ; Stoma, Igor (Gomel State Medical University, Gomel) ; Méndez, Gustavo-Adolfo (Hospital Escuela de Agudos Dr. Ramón Madariaga) ; Maertens, Johan (KU Leuven) ; Khanna, Nina (University Hospital Basel (Basilea, Suïssa)) ; Espigado, Ildefonso (Universidad de Sevilla) ; Dragonetti, Giulia (Fondazione Policlinico Universitario Agostino Gemelli) ; Fianchi, Luana (Fondazione Policlinico Universitario Agostino Gemelli) ; Del Principe, Maria Ilaria (Tor Vergata University of Rome) ; Cabirta, Alba (Vall d'Hebron Institut d'Oncologia) ; Ormazabal-Vélez, Irati (Complejo Hospitalario de Navarra) ; Jakšić, Ozren (University Hospital Dubrava) ; Buquicchio, Caterina (Ematologia con Trapianto (Itàlia)) ; Bonuomo, Valentina (University of Verona) ; Batinié, Josip (University Hospital Centre Zagreb) ; Omrani, Ali S. (Hamad Medical Corporation) ; Lamure, Sylvain (Universite de Montpellier) ; Finizio, Olimpia (Università Cattolica del Sacro Cuore) ; Fernández, Noemí (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Falces-Romero, Iker (Hospital Universitario La Paz (Madrid)) ; Blennow, Ola (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Bergantim, Rui (Centro Hospitalar e Universitário São João (Portugal)) ; Ali, Natasha (Aga Khan University Hospital) ; Win, Sein (Yangon General Hospital) ; Van Praet, Jens (AZ Sint-Jan Brugge-Oostende) ; Tisi, Maria Chiara (Ospedale San Bortolo) ; Shirinova, Ayten (Azerbaijan Scientific Research Hematology and Transfusiology Institute) ; Schönlein, Martin (University Medical Center Hamburg-Eppendorf) ; Prattes, Juergen (Medical University of Graz) ; Piedimonte, Monica (AOU Sant'Andrea) ; Petzer, Verena (Medical University of Innsbruck) ; Navrátil, Milan (University Hospital of Ostrava) ; Kulasekararaj, Austin (King's College Hospital NHS Foundation Trust) ; Jindra, Pavel (University Hospital Pilsen) ; Sramek, Jirí (University Hospital Pilsen) ; Glenthøj, Andreas (Copenhagen University Hospital) ; Fazzi, Rita (Azienda Ospedaliera Università Pisana) ; De Ramón-Sánchez, Cristina (Instituto de Investigación Biomédica de Salamanca) ; Cattaneo, Chiara (ASST-Spedali Civili) ; Calbacho, Maria (Hospital Universitario 12 de Octubre (Madrid)) ; Bahr, Nathan C. (University of Kansas Medical Center) ; El-Ashwah, Shaimaa (Mansoura University) ; Cordoba, Raul (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Hanakova, Michaela (Institute of Hematology and Blood Transfusion) ; Zambrotta, Giovanni (Azienda Ospedaliera San Gerardo) ; Zambrotta, Giovanni (Università Milano-Bicocca) ; Sciumè, Mariarita (IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Booth, Stephen (Oxford University Hospitals) ; Rodrigues, Raquel Nunes (Portuguese Institute of Oncology) ; Sacchi, Maria Vittoria (Azienda Ospedaliera Nazionale "SS. Antonio e Biagio e Cesare Arrigo") ; García-Poutón, Nicole (Universitat de Barcelona) ; Martín-González, Juan-Alberto (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Khostelidi, Sofya (North-Western State Medical University named after Iliá Ilich Méchnikov) ; Gräfe, Stefanie (University of Cologne) ; Rahimli, Laman (University of Cologne) ; Ammatuna, Emanuele (University Medical Center Groningen) ; Busca, Alessandro (AOU Citta' della Salute e della Scienza) ; Corradini, Paolo (University of Milan) ; Hoenigl, Martin (Medical University of Graz) ; Klimko, Nikolai (North-Western State Medical University named after Iliá Ilich Méchnikov) ; Koehler, Philipp (University of Cologne) ; Pagliuca, Antonio (King's College Hospital NHS Foundation Trust) ; Passamonti, Francesco (University of Insubria and ASST Sette Laghi) ; Cornely, Oliver A. (University of Cologne) ; Pagano, Livio (Università Cattolica del Sacro Cuore) ; Universitat Autònoma de Barcelona
Patients with acute myeloid leukemia (AML) are at high risk of dying from coronavirus disease 2019 (COVID-19). The optimal management of AML patients with COVID-19 has not been established. Our multicenter study included 388 adult AML patients diagnosed with COVID-19 between February 2020 and October 2021. [...]
2022 - 10.3324/haematol.2022.280847
Haematologica, Vol. 108 (may 2022) , p. 22-33  

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