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Plasma lipid profiles discriminate bacterial from viral infection in febrile children
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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, R. (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
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15 p, 1.7 MB |
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
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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 (University Medical Center) ;
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
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12 p, 2.0 MB |
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
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Brasil, Sandra (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Leal, Fátima (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Navarrete, Rosa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ecay, María Jesús (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Desviat, Lourdes R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Riera, Casandra (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ;
Couce, Maria Luz (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Martin-Hernández, Elena (Hospital Universitario 12 de Octubre (Madrid)) ;
Morais, Ana (Hospital Universitario La Paz (Madrid)) ;
Pedrón, Consuelo (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Peña-Quintana, Luis (Universidad de Las Palmas de Gran Canaria) ;
Rigoldi, Miriam (Center for Rare Disorders, ASST- Monza, Ospedale San Gerardo) ;
Specola, Norma (Unidad de Metabolismo Hospital de Niños de La Plata (La Plata, Argentina)) ;
de Almeida, Isabel Tavares (Metabolic Diseases Unit (Lisboa, Portugal)) ;
Vives, Inmaculada (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Yahyaoui, Raquel (Instituto de Investigación Biomédica de Málaga) ;
Rodríguez-Pombo, Pilar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Ugarte, Magdalena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Merinero, Begoña (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. [...]
2018 - 10.1186/s13023-018-0862-y
Orphanet Journal of Rare Diseases, Vol. 13 (july 2018)
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4.
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14 p, 1.9 MB |
The FANCM :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
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Figlioli, Gisella (The FIRC Institute for Molecular Oncology) ;
Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ;
Catucci, Irene (The FIRC Institute for Molecular Oncology) ;
Caleca, Laura (Istituto Nazionale dei Tumori, Department of Research) ;
Viz Lasheras, Sandra (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujol, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Kiiski, Johanna I. (University of Helsinki, Department of Obstetrics and Gynecology) ;
Muranen, Taru A. (University of Helsinki, Department of Obstetrics and Gynecology) ;
Barnes, Daniel R. (University of Cambridge, Department of Public Health and Primary Care) ;
Dennis, Joe (University of Cambridge, Department of Public Health and Primary Care) ;
Michailidou, Kyriaki (The Cyprus Institute of Neurology & Genetics, Department of Electron Microscopy) ;
Bolla, Manjeet K. (University of Cambridge, Department of Public Health and Primary Care) ;
Leslie, Goska (University of Cambridge, Department of Public Health and Primary Care) ;
Aalfs, Cora M. (Amsterdam UMC, Department of Clinical Genetics) ;
Adank, Muriel A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Adlard, Julian (Chapel Allerton Hospital) ;
Agata, Simona (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Cadoo, Karen (Memorial Sloan Kettering Cancer Center) ;
Agnarsson, Bjarni A. (University of Iceland, School of Medicine) ;
Ahearn, Thomas (National Cancer Institute) ;
Aittomäki, Kristiina (University of Helsinki, Department of Clinical Genetics) ;
Ambrosone, Christine B. (Roswell Park Cancer Institute) ;
Andrews, Lesley (Nelune Comprehensive Cancer Care Centre) ;
Anton-Culver, Hoda (University of California Irvine, Department of Epidemiology) ;
Antonenkova, Natalia N. (N.N. Alexandrov Research Institute of Oncology and Medical Radiology) ;
Arndt, Volker (German Cancer Research Center) ;
Arnold, Norbert (University Hospital of Schleswig-Holstein, Department of Gynaecology and Obstetrics) ;
Aronson, Kristan J. (Queen's University, Department of Public Health Sciences) ;
Arun, Banu K. (University of Texas, Department of Breast Medical Oncology) ;
Asseryanis, Ella (Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center) ;
Auber, Bernd (Institute of Human Genetics) ;
Auvinen, Päivi (University of Eastern Finland, Translational Cancer Research Area) ;
Azzollini, Jacopo (Fondazione Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology) ;
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ;
Barkardottir, Rosa B. (University of Iceland) ;
Barrowdale, Daniel (University of Cambridge, Department of Public Health and Primary Care) ;
Barwell, Julian (Leicester General Hospital (Leicester, Regne Unit)) ;
Beane-Freeman, Laura (National Cancer Institute) ;
Beauparlant, Charles Joly (Centre Hospitalier Universitaire de Québec - Université Laval) ;
Beckmann, Matthias W. (Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics) ;
Behrens, Sabine (German Cancer Research Center) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Berger, Raanan (Chaim Sheba Medical Center. The Institute of Oncology) ;
Bermisheva, Marina (Institute of Biochemistry and Genetics) ;
Blanco, Amie M. (University of California San Francisco) ;
Blomqvist, Carl (Örebro University Hospital, Department of Oncology) ;
Bogdanova, Natalia V. (Hannover Medical School) ;
Bojesen, Anders (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Bojesen, Stig E. (University of Copenhagen) ;
Bonanni, Bernardo (IEO, European Institute of Oncology) ;
Borg, Åke (Skåne University Hospital (Suècia)) ;
Brady, Angela F. (London North West University Hospitals) ;
Brauch, Hiltrud (German Cancer Research Center) ;
Brenner, Hermann (German Cancer Research Center) ;
Brüning, Thomas (Institute of the Ruhr University Bochum) ;
Burwinkel, Barbara (University of Heidelberg) ;
Buys, Saundra (Huntsman Cancer Institute, Department of Medicine) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Caliebe, Almuth (Universitätsklinikum Schleswig-Holstein (Alemanya)) ;
Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ;
Campa, Daniele (University of Pisa, Department of Biology) ;
Campbell, Ian (The University of Melbourne, Department of Oncology) ;
Canzian, Federico (German Cancer Research Center) ;
Castelao, Jose E. (Instituto de Investigación Sanitaria Galicia Sur) ;
Chang-Claude, Jenny (University Medical Center Hamburg-Eppendorf) ;
Chanock, Stephen J. (National Cancer Institute) ;
Claes, Kathleen (Ghent University, Centre for Medical Genetics) ;
Clarke, Christine L. (University of Sydney, Westmead Institute for Medical Research) ;
Collavoli, Anita (University Hospital of Pisa (Pisa, Itàlia)) ;
Conner, Thomas A. (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ;
Cox, David G. (Cancer Research Center of Lyon) ;
Cybulski, Cezary (Pomeranian Medical University, Department of Genetics and Pathology) ;
Czene, Kamila (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Daly, Mary B. (Fox Chase Cancer Center, Department of Clinical Genetics) ;
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Devilee, Peter (Leiden University Medical Center, Department of Human Genetics) ;
Diez, Orland (Hospital Universitari Vall d'Hebron) ;
Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Dite, Gillian S. (The University of Melbourne) ;
Ditsch, Nina (Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics) ;
Domchek, Susan M. (Perelman School of Medicine at the University of Pennsylvania, Department of Medicine) ;
Dorfling, Cecilia M. (University of Pretoria, Department of Genetics) ;
dos-Santos-Silva, Isabel (London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology) ;
Durda, Katarzyna (Pomeranian Medical University, Department of Genetics and Pathology) ;
Dwek, Miriam (University of Westminster, Department of Biomedical Sciences) ;
Eccles, Diana M. (University of Southampton, Cancer Sciences Academic Unit) ;
Ekici, Arif B. (Friedrich-Alexander University Erlangen-Nuremberg) ;
Eliassen, A. Heather (Harvard T.H. Chan School of Public Health, Department of Epidemiology) ;
Ellberg, Carolina (Lund University, Department of Cancer Epidemiology) ;
Eriksson, Mikael (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Evans, Gareth (Manchester University NHS Foundation Trust) ;
Fasching, Peter A. (University of California at Los Angeles, Department of Medicine Division of Hematology and Oncology) ;
Figueroa, Jonine (Cancer Research UK Edinburgh Centre) ;
Flyger, Henrik (Copenhagen University Hospital) ;
Foulkes, William D. (McGill University, Departments of Human Genetics and Oncology) ;
Friebel, Tara M. (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Friedman, Eitan (Tel Aviv University) ;
Gabrielson, Marike (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Gaddam, Pragna (Memorial Sloan-Kettering Cancer Center (Nova York, Estats Units d'Amèrica)) ;
Gago-Dominguez, Manuela (University of California San Diego) ;
Gao, Chi (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Gapstur, Susan M. (American Cancer Society) ;
Garber, Judy (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
García-Closas, Montserrat (National Cancer Institute) ;
García-Sáenz, José A. (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Gaudet, Mia M. (American Cancer Society) ;
Gayther, Simon A. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Giles, Graham G. (Monash University, Department of Epidemiology and Preventive Medicine) ;
Glendon, Gord (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital) ;
Godwin, Andrew K. (Kansas University Medical Center, Department of Pathology and Laboratory Medicine) ;
Goldberg, Mark S. (McGill University) ;
Goldgar, David E. (University of Utah School of Medicine, Department of Dermatology) ;
Guénel, Pascal (University Paris-Sud, University Paris-Saclay) ;
Gutierrez-Barrera, Angelica M. (University of Texas, Department of Breast Medical Oncology and Clinical Genetics Program) ;
Haeberle, Lothar (University Hospital Erlangen (Alemanya)) ;
Haiman, Christopher A. (University of Southern California, Department of Preventive Medicine) ;
Håkansson, Niclas (Karolinska Institutet, Institute of Environmental Medicine) ;
Hall, Per (Södersjukhuset, Department of Oncology) ;
Hamann, Ute (German Cancer Research Center) ;
Harrington, Patricia A. (University of Cambridge, Department of Oncology) ;
Hein, Alexander (University Hospital Erlangen (Alemanya)) ;
Heyworth, Jane (The University of Western Australia) ;
Hillemanns, Peter (Hannover Medical School, Gynaecology Research Unit) ;
Hollestelle, Antoinette (Erasmus MC Cancer Institute) ;
Hopper, John L. (The University of Melbourne) ;
Hosgood, H. Dean (Albert Einstein College of Medicine) ;
Howell, Anthony (University of Manchester, Division of Cancer Sciences) ;
Hu, Chunling (Mayo Clinic, Department of Laboratory Medicine and Pathology) ;
Hulick, Peter J. (The University of Chicago Pritzker School of Medicine) ;
Hunter, David J. (University of Oxford) ;
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology) ;
Isaacs, Claudine (Georgetown University) ;
Jakimovska, Milena (Macedonian Academy of Sciences and Arts) ;
Jakubowska, Anna (Pomeranian Medical University) ;
James, Paul (Peter MacCallum Cancer Center) ;
Janavicius, Ramunas (State Research Institute Innovative Medicine Center) ;
Janni, Wolfgang (University Hospital of Ulm (Alemanya)) ;
John, Esther M. (Stanford University School of Medicine, Department of Medicine) ;
Jones, Michael E. (The Institute of Cancer Research) ;
Jung, Audrey (German Cancer Research Center) ;
Kaaks, Rudolf (German Cancer Research Center) ;
Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Khusnutdinova, Elza (Bashkir State Medical University, Department of Medical Genetics) ;
Kitahara, Cari M. (National Cancer Institute) ;
Konstantopoulou, Irene (National Centre for Scientific Research 'Demokritos') ;
Koutros, Stella (National Cancer Institute) ;
Kraft, Peter (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Lambrechts, Diether (University of Leuven, Department of Human Genetics) ;
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ;
Le Marchand, Loic (University of Hawaii Cancer Center, Epidemiology Program) ;
Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Lesueur, Fabienne (Mines ParisTech) ;
Lilyquist, Jenna (Mayo Clinic, Department of Health Sciences Research) ;
Loud, Jennifer T. (National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics) ;
Lu, Karen H. (University of Texas MD Anderson Cancer Center, Department of Gynecologic Oncology) ;
Luben, Robert N. (University of Cambridge, Department of Public Health and Primary Care) ;
Lubinski, Jan (Pomeranian Medical University, Department of Genetics and Pathology) ;
Mannermaa, Arto (Kuopio University Hospital ( Finlàndia)) ;
Manoochehri, Mehdi (German Cancer Research Center) ;
Manoukian, Siranoush (Istituto Nazionale dei Tumori di Milano) ;
Margolin, Sara (Karolinska Institutet, Department of Clinical Science and Education) ;
Martens, John W. M. (Erasmus MC Cancer Institute) ;
Maurer, Tabea (University Medical Center Hamburg-Eppendorf) ;
Mavroudis, Dimitrios (University Hospital of Heraklion, Department of Medical Oncology) ;
Mebirouk, Noura (Mines ParisTech) ;
Meindl, Alfons (Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics) ;
Menon, Usha (University College London) ;
Miller, Austin (Roswell Park Cancer Institute) ;
Montagna, Marco (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Nathanson, Katherine L. (University of Pennsylvania, Department of Medicine) ;
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Newman, William G. (Manchester University NHS Foundation Trust) ;
Nguyen-Dumont, Tu (The University of Melbourne, Department of Clinical Pathology) ;
Nielsen, Finn Cilius (Copenhagen University Hospital) ;
Nielsen, Sarah (The University of Chicago, Center for Clinical Cancer Genetics) ;
Nikitina-Zake, Liene (Latvian Biomedical Research and Study Centre) ;
Offit, Kenneth (Memorial Sloan-Kettering Cancer Center, Clinical Genetics Service, Department of Medicine) ;
Olah, Edith (National Institute of Oncology, Department of Molecular Genetics) ;
Olopade, Olufunmilayo I. (The University of Chicago) ;
Olshan, Andrew F. (University of North Carolina at Chapel Hill, Department of Epidemiology) ;
Olson, Janet E. (Mayo Clinic, Department of Health Sciences Research) ;
Olsson, Håkan (Lund University, Department of Cancer Epidemiology, Clinical Sciences) ;
Osorio, Ana (Spanish Network on Rare Diseases) ;
Ottini, Laura (University La Sapienza, Department of Molecular Medicine) ;
Peissel, Bernard (Istituto Nazionale dei Tumori di Milano) ;
Peixoto, Ana (Portuguese Oncology Institute, Department of Genetics) ;
Peto, Julian (London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology) ;
Plaseska-Karanfilska, Dijana (Macedonian Academy of Sciences and Arts) ;
Pocza, Timea (National Institute of Oncology, Department of Molecular Genetics) ;
Presneau, Nadege (University of Westminster, Department of Biomedical Sciences) ;
Pujana, Miquel Angel (Institut d'Investigació Biomèdica de Bellvitge) ;
Punie, Kevin (University Hospitals Leuven (Bèlgica)) ;
Rack, Brigitte (University Hospital of Ulm (Alemanya)) ;
Rantala, Johanna (Karolinska Institutet, Clinical Genetics) ;
Rashid, Muhammad U. (Shaukat Khanum Memorial Cancer Hospital and Research Centre, Department of Basic Sciences) ;
Rau-Murthy, Rohini (Memorial Sloan-Kettering Cancer Center, Department of Medicine) ;
Rennert, Gad (Clalit National Cancer Control Center) ;
Lejbkowicz, Flavio (Clalit National Cancer Control Center) ;
Rhenius, Valerie (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Romero, Atocha (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Rookus, Matti A. (The Netherlands Cancer Institute, Department of Epidemiology) ;
Ross, Eric A. (Fox Chase Cancer Center) ;
Rossing, Maria (Copenhagen University Hospital) ;
Rudaitis, Vilius (Vilnius University, Institute of Clinical Medicine) ;
Ruebner, Matthias (University Hospital Erlangen. Friedrich-Alexander University Erlangen-Nuremberg, Department of Gynaecology and Obstetrics) ;
Saloustros, Emmanouil (General University Hospital of Larissa (Grècia)) ;
Sanden, Kristin (University of Wisconsin, Cancer Center at ProHealth Care) ;
Santamariña, Marta (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Scheuner, Maren T. (University of California San Francisco, Cancer Genetics and Prevention Program) ;
Schmutzler, Rita K. (University of Cologne, Center for Molecular Medicine Cologne) ;
Schneider, Michael (University Hospital Erlangen (Alemanya)) ;
Scott, Christopher (Mayo Clinic, Department of Health Sciences Research) ;
Senter, Leigha (The Ohio State University, Department of Internal Medicine) ;
Shah, Mitul (University of Cambridge, Department of Oncology) ;
Sharma, Priyanka (University of Kansas Medical Center, Department of Internal Medicine) ;
Shu, Xiao-Ou (Vanderbilt University School of Medicine, Department of Medicine) ;
Simard, Jacques (Université Laval) ;
Singer, Christian F. (Medical University of Vienna) ;
Sohn, Christof (University of Heidelberg) ;
Soucy, Penny (Université Laval) ;
Southey, Melissa C. (The University of Melbourne, Department of Clinical Pathology) ;
Spinelli, John J. (University of British Columbia, School of Population and Public Health) ;
Steele, Linda (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Stoppa-Lyonnet, Dominique (Université Paris Descartes) ;
Tapper, William J. (University of Southampton) ;
Teixeira, Manuel R. (University of Porto) ;
Terry, Mary Beth (Columbia University, Department of Epidemiology) ;
Thomassen, Mads (Odense University Hospital (Dinamarca)) ;
Thompson, Jennifer (NorthShore University HealthSystem, Center for Medical Genetics) ;
Thull, Darcy L. (University of Pittsburgh School of Medicine, Department of Medicine) ;
Tischkowitz, Marc (University of Cambridge, Department of Medical Genetics) ;
Tollenaar, Rob A. E. M. (Leiden University Medical Center, Department of Surgery) ;
Torres, Diana (Pontificia Universidad Javeriana) ;
Troester, Melissa A. (University of North Carolina at Chapel Hill) ;
Truong, Thérèse (University Paris-Sud) ;
Tung, Nadine (Beth Israel Deaconess Medical Center, Department of Medical Oncology) ;
Untch, Michael (Helios Clinics Berlin-Buch, Department of Gynecology and Obstetrics) ;
Vachon, Celine M. (Mayo Clinic, Department of Health Sciences Research) ;
van Rensburg, Elizabeth J. (University of Pretoria, Department of Genetics) ;
van Veen, Elke M. (Manchester University NHS Foundation Trust) ;
Vega, Ana (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Viel, Alessandra (Centro di Riferimento Oncologico di Aviano) ;
Wappenschmidt, Barbara (University of Cologne, Center for Molecular Medicine Cologne) ;
Weitzel, Jeffrey N. (City of Hope, Clinical Cancer Genetics) ;
Wendt, Camilla (Karolinska Institutet (Estocolm, Suècia)) ;
Wieme, Greet (Ghent University, Centre for Medical Genetics) ;
Wolk, Alicja (Uppsala University, Department of Surgical Sciences) ;
Yang, Xiaohong R. (National Cancer Institute) ;
Zheng, Wei (Vanderbilt University School of Medicine) ;
Ziogas, Argyrios (University of California Irvine, Department of Epidemiology) ;
Zorn, Kristin K. (University of Pittsburgh School of Medicine) ;
Dunning, Alison M. (University of Cambridge, Department of Oncology) ;
Lush, Michael (University of Cambridge, Department of Public Health and Primary Care) ;
Wang, Qin (University of Cambridge, Department of Public Health and Primary Care) ;
McGuffog, Lesley (University of Cambridge, Department of Public Health and Primary Care) ;
Parsons, Michael T. (QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology) ;
Pharoah, Paul D. P. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Fostira, Florentia (National Centre for Scientific Research 'Demokritos') ;
Toland, Amanda E. (The Ohio State University, Department of Cancer Biology and Genetics) ;
Andrulis, Irene L. (University of Toronto, Department of Molecular Genetics) ;
Ramus, Susan J. (The Kinghorn Cancer Centre, Garvan Institute of Medical Research) ;
Swerdlow, Anthony J. (The Institute of Cancer Research) ;
Greene, Mark H. (National Cancer Institute, Clinical Genetics Branch) ;
Chung, Wendy (Columbia University, Departments of Pediatrics and Medicine) ;
Milne, Roger L. (Monash University) ;
Chenevix-Trench, Georgia (QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology) ;
Dörk, Thilo (Hannover Medical School) ;
Schmidt, Marjanka K. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Easton, Douglas F. (University of Cambridge, Department of Oncology) ;
Radice, Paolo (Istituto Nazionale dei Tumori) ;
Hahnen, Eric (University of Cologne) ;
Antoniou, Antonis C. (University of Cambridge, Department of Public Health and Primary Care) ;
Couch, Fergus J. (Mayo Clinic, Department of Laboratory Medicine and Pathology) ;
Nevanlinna, Heli (University of Helsinki, Department of Obstetrics and Gynecology) ;
Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Peterlongo, Paolo (The FIRC Institute for Molecular Oncology)
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. [...]
2019 - 10.1038/s41523-019-0127-5
NPJ breast cancer, Vol. 5 (November 2019) , art. 38
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Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles
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Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Fernández, Victoria (Centro Nacional de Investigaciones Oncológicas) ;
Barroso, Alicia (Centro Nacional de Investigaciones Oncológicas) ;
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ;
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Santamariña, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Quiles, Francisco (Institut Català d'Oncologia) ;
Lázaro, Conxi (Institut Català d'Oncologia) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Fernández García, Daniel (Instituto de Biología Molecular y Celular del Cancer) ;
González-Sarmiento, Rogelio (Instituto de Biología Molecular y Celular del Cancer) ;
Durán, Mercedes (Universidad de Valladolid. Instituto de Biología y Genética Molecular) ;
Fernández Piqueras, José (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested negative for BRCA1 and BRCA2 mutations and 854 controls. [...]
2013 - 10.1002/humu.22438
Human mutation, Vol. 34, issue 12 (Dec. 2013) , p.1615-8
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