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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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Zhang, Qian (St. Rockefeller University) ;
Liu, Zhiyong (Rockefeller University) ;
Moncada-Velez, Marcela (Rockefeller University) ;
Chen, Jie (Rockefeller University) ;
Ogishi, Masato (Rockefeller University) ;
Bigio, Benedetta (Rockefeller University) ;
Yang, Rui (Rockefeller University) ;
Arias, Andrés Augusto (Universidad de Antioquia) ;
Zhou, Qinhua (Rockefeller University) ;
Han, Ji Eun (Rockefeller University) ;
Ugurbil, Aileen Camille (Rockefeller University) ;
Zhang, Peng (Rockefeller University) ;
Rapaport, Franck (Rockefeller University) ;
Li, Juan (Rockefeller University) ;
Spaan, András N. (University Medical Center Utrecht) ;
Boisson, Bertrand (University of Paris) ;
Boisson-Dupuis, S. (University of Paris) ;
Bustamante, J. (Necker Hospital for Sick Children) ;
Puel, A. (University of Paris) ;
Ciancanelli, Michael J (Turnstone Biologics) ;
Zhang, Shen-Ying (University of Paris) ;
Béziat, V. (University of Paris) ;
Jouanguy, E. (University of Paris) ;
Abel, Laurent (INSERM U1163. University of Paris) ;
Cobat, A. (University of Paris) ;
Casanova, Jean-Laurent (Rockefeller University) ;
Bastard, Paul (University of Paris) ;
Korol, Cecilia (Necker Hospital for Sick Children, Paris) ;
Rosain, Jérémie (University of Paris) ;
Philippot, Q. (APHP Tenon Hospital) ;
Chbihi, Marwa (University of Paris. Imagine Institute) ;
Lorenzo, L. (University of Paris. Imagine Institute) ;
Bizien, L. (University of Paris. Imagine Institute) ;
Neehus, A. L. (University of Paris. Imagine Institute) ;
Kerner, G. (University of Paris. Imagine Institute) ;
Seeleuthner, Y. (University of Paris. Imagine Institute) ;
Manry, J. (University of Paris. Imagine Institute) ;
Le Voyer, T. (University of Paris. Imagine Institute) ;
Boisson, Bertrand (University of Paris. Imagine Institute) ;
Boisson-Dupuis, S. (University of Paris. Imagine Institute) ;
Bustamante, J. (Necker Hospital for Sick Children. AP-HP) ;
Puel, A. (University of Paris. Imagine Institute) ;
Zhang, S. Y. (University of Paris. Imagine Institute) ;
Béziat, V. (University of Paris. Imagine Institute) ;
Jouanguy, E. (University of Paris) ;
Abel, Laurent (University of Paris) ;
Cobat, A. (University of Paris) ;
Bastard, Paul (University of Paris) ;
Rosain, J. (University of Paris) ;
Philippot, Q. (APHP Tenon Hospital) ;
Chbihi, M. (University of Paris) ;
Lorenzo, L. (University of Paris) ;
Bizien, L. (University of Paris) ;
Neehus, A. L. (University of Paris) ;
Kerner, G. (University of Paris) ;
Seeleuthner, Y. (University of Paris) ;
Manry, J. (University of Paris) ;
Le Voyer, T. (University of Paris) ;
Boisson, Bertrand (University of Paris) ;
Boisson-Dupuis, S. (University of Paris) ;
Bustamante, J. (Necker Hospital for Sick Children) ;
Puel, A. (University of Paris) ;
Zhang, S. Y. (University of Paris) ;
Béziat, Vivien (University of Paris) ;
Jouanguy, Emmanuelle (University of Paris) ;
Abel, Laurent (INSERM U1163. University of Paris) ;
Cobat, Aurélie (University of Paris) ;
Le Pen, Jérémie (Rockefeller University) ;
Schneider, W. M. (Rockefeller University) ;
Razooky, B. S. (Rockefeller University) ;
Hoffmann, Hans-Heinrich (Rockefeller University) ;
Michailidis, E. (Rockefeller University) ;
Rice, Charles M. (Rockefeller University) ;
Sabli, Ira K. D. (Imperial College London) ;
Hodeib, Stephanie (Imperial College London) ;
Sancho Shimizu, Vanessa (Imperial College London) ;
Bilguvar, Kaya (Yale School of Medicine) ;
Ye, Junqiang (Columbia University) ;
Bolze, Alexandre (Helix) ;
Zhang, Y. (NIAID Clinical Genomics Program) ;
Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Zhang, Y. (NIAID Clinical Genomics Program) ;
Notarangelo, L. D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Onodi, Fanny (Université de Paris) ;
Korniotis, Sarantis (Université de Paris) ;
Karpf, Léa (Université de Paris. Institut de Recherche Saint-Louis. INSERM U976. Hôpital Saint-Louis) ;
Soumelis, V. (AP-HP. Hôpital Saint-Louis. Laboratoire d'Immunologie) ;
Bonnet-Madin, Lucie (Université de Paris. Institut de Recherche Saint-Louis) ;
Amara, A. (Université de Paris. Institut de Recherche Saint-Louis) ;
Dorgham, Karim (Sorbonne Université. Inserm. Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS). Assistance Publique-Hôpitaux de Paris (AP-HP). Hôpital Pitié-Salpêtrière) ;
Gorochov, Guy (Sorbonne Université) ;
Smith, N. (Institut Pasteur) ;
Duffy, Darragh (Institut Pasteur) ;
Moens, L. (University Hospitals Leuven (Bèlgica)) ;
Meyts, I. (KU Leuven. Department of Immunology. Microbiology and Transplantation) ;
Meade, P. (Department of Microbiology) ;
Garcia-Sastre, Adolfo (Tisch Cancer Institute) ;
Krammer, Florian (Department of Microbiology) ;
Corneau, A. (Sorbonne Université) ;
Masson, C. (Imagine Institute) ;
Schmitt, Y. (Imagine Institute) ;
Schluter, A. (Neurometabolic Diseases Laboratory) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Khan, T. (Sidra Medicine) ;
Marr, Nico (Hamad Bin Khalifa University) ;
Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ;
Roussel, L. (McGill University Health Centre) ;
Vinh, D. C. (McGill University Health Centre) ;
Shahrooei, M. (Saeed Pathobiology and Genetic Lab) ;
Alosaimi, M. F. (College of Medicine. King Saud University) ;
Alsohime, F. ;
Hasanato, R. (Department of Pathology and Laboratory Medicine. College of Medicine. King Saud University) ;
Mansouri, D. (Shahid Beheshti University of Medical Sciences) ;
Al-Saud, H. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ;
Almourfi, F. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ;
Al-Mulla, F. (Kuwait University) ;
Al-Muhsen, S. Z. (Immunology Research Laboratory. Department of Pediatrics. College of Medicine. King Saud University Medical City. King Saud University) ;
Al Turki, S. (Cancer & Blood Research. King Abdullah International Medical Research Center) ;
van de Beek, D. (Amsterdam UMC. University Medical Center) ;
Biondi, A. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ;
Bettini, L. R. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ;
D'Angio, Mariella (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ;
Bonfanti, Paolo (Department of Infectious Diseases. San Gerardo Hospital. University of Milano-Bicocca) ;
Imberti, L. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ;
Sottini, A. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ;
Paghera, S. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ;
Quiros-Roldan, E. (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ;
Rossi, C. (Medical Officer. ASST Spedali Civili di Brescia) ;
Oler, A. J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Tompkins, M. F. (PRIMER. Uniformed Services University of the Health Sciences) ;
Alba, Camille (PRIMER. Uniformed Services University of the Health Sciences) ;
Dalgard, C. L. (American Genome Center. Uniformed Services University of the Health Sciences) ;
Vandernoot, Isabelle (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ;
Smits, Guillaume (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ;
Goffard, Jean-Christope (Department of Internal Medicine. Hôpital Erasme. Université Libre de Bruxelles) ;
Migeotte, Isabelle (Hôpital Erasme) ;
Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Morange, Pierre-Emmanuel (Aix Marseille Univ) ;
Keles, Sevgi (Meram Medical Faculty. Necmettin Erbakan University. Meram Medical Faculty) ;
Çölkesen, Fatma (Department of Infectious Diseases and Clinical Microbiology. Konya Training and Research Hospital) ;
Ozcelik, Tayfun (Bilkent University) ;
Yasar, Tayfun Kart (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ;
Senoglu, Sevtap (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ;
Karabela, Şemsi Nur (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ;
Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Novelli, Giuseppe (University of Rome "Tor Vergata) ;
Hraiech, Sami (Intensive Care Unit) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ;
Duval, Xavier (Hôpital Bichat Claude Bernard) ;
Laouénan, Cédric (Hôpital Bichat) ;
Duval, X. (Hôpital Bichat Claude Bernard) ;
Snow, Andrew (Uniformed Services University of the Health Sciences, Bethesda) ;
Dalgard, Clifton L. (American Genome Center) ;
Milner, Joshua D. (Columbia University) ;
Mogensen, Trine Hyrup (Aarhus University) ;
Spaan, András N. (Univer-sity Medical Center Utrecht) ;
Bustamante, Jacinta (Necker Hospital for Sick Children) ;
Ciancanelli, Michael J. (Turnstone Biologics) ;
Maniatis, Tom (New York Genome Center) ;
Soumelis, Vassili (Hôpital Saint-Louis, Paris) ;
Nussenzweig, Michel (Howard Hughes Medical Institute) ;
Garcia-Sastre, Adolfo (Icahn School of Medicine) ;
Lifton, Richard P. (Yale School of Medicine) ;
Foti, Giuseppe (University of Milano-Bicocca) ;
Bellani, G. (University of Milano-Bicocca) ;
Citerio, Giuseppe (University of Milano-Bicocca) ;
Contro, E. (University of Milano-Bicocca) ;
Pesci, Alberto (University of Milano-Bicocca.) ;
Valsecchi, M. G. (University of Milano-Bicocca) ;
Cazzaniga, M. (University of Milano-Bicocca) ;
Abad Capa, Jorge (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rodrigo, C. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ;
Akcan, O. M. (Necmettin Erbakan University) ;
Darazam, I. A. (Shahid Beheshti University of Medical Sciences) ;
Aldave, J. C. (Hospital Nacional Edgardo Rebagliati Martins) ;
Ramos, M. A. (Parc Sanitari Sant Joan de Déu) ;
Nadji, S. A. (Shahid Beheshti University of Medical Sciences) ;
Alkan, G. (Selcuk University) ;
Allardet-Servent, J. (Hôpital Européen) ;
Allende-Martinez, Luis M (Hospital Universitario 12 de Octubre (Madrid)) ;
Alsina, L. (Hospital Sant Joan de Déu (Manresa)) ;
Alyanakian, M. A. (Necker Hospital for Sick Children) ;
Amador-Borrero, B. (Université de Paris) ;
Mouly, S. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ;
Sene, D. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ;
Amoura, Zahir (Internal Medicine Department. Pitié-Salpétrière Hospital) ;
Mathian, Alexis (Internal Medicine Department. Pitié-Salpétrière Hospital) ;
Antolí, Arnau (Hospital Universitari de Bellvitge) ;
Blanch, G. R. (Hospital Universitari de Bellvitge) ;
Riera, J. S. (Hospital Universitari de Bellvitge) ;
Moreno, X. S. (Hospital Universitari de Bellvitge) ;
Arslan, S. (Necmettin Erbakan University) ;
Assant, S. (Lyon Sud Hospital) ;
Auguet, Teresa (Hospital Universitari Joan XXIII de Tarragona) ;
Azot, A. (Private Practice) ;
Bajolle, F. (Necker Hospital for Sick Children) ;
Bustamante, J. (Necker Hospital for Sick Children) ;
Lévy, R. (Necker Hospital for Sick Children) ;
Oualha, M. (Necker Hospital for Sick Children) ;
Baldolli, A. (Department of Infectious Diseases) ;
Ballester Devis, Maria (Consorcio Hospital General Universitario) ;
Feldman, H. B. (Tel Aviv University) ;
Barrou, B. (Sorbonne Université.) ;
Beurton, Alexandra (Hôpital Pitié-Salpêtrière) ;
Bilbao, A. (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Blanchard-Rohner, G. (Geneva University Hospitals (Suïssa)) ;
Blandinières, A. (Georges Pompidou Hospital) ;
Rivet, N. (Georges Pompidou Hospital) ;
Blázquez-Gamero, Daniel (Hospital Universitario 12 de Octubre (Madrid)) ;
Bloomfield, M. (Motol University Hospital) ;
Bolivar-Prados, Mireia (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Clavé i Civit, Pere (rie, R.) ;
Bosteels, C. (Universitair Ziekenhuis Gent) ;
Lambrecht, B. N. (Universitair Ziekenhuis Gent) ;
van Braeckel, E. (Universitair Ziekenhuis Gent) ;
Bousfiha, Ahmed A (Averroes University Hospital D'Inflammation et d'Allergie. Hassann II University) ;
Bouvattier, C. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ;
Vincent, A. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ;
Boyarchuk, O. (I. Horbachevsky Ternopil National Medical University) ;
Bueno, M. R. P. (University of São Paulo) ;
Castro, M. V. (University of São Paulo) ;
Matos, L. R. B. (University of São Paulo) ;
Zatz, M. (Human Genome and Stem-Cell Research Center. University of São Paulo) ;
Agra, J. J. C. (Hospital Universitario Insular de Gran Canaria) ;
Calimli, S. (Konya State Hospital) ;
Capra, R. (Spedali Civili) ;
Carrabba, M. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ;
Fabio, G. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Vélez-Santamaria, V. (Hospital Universitari de Bellvitge) ;
Caseris, M. (Hopital Robert Debré) ;
Falck, A. (Hopital Robert Debré) ;
Poncelet, G. (Hopital Robert Debré) ;
Castelle, M. (Necker Enfants Malades Hospital) ;
Castelli, F. (University of Brescia) ;
de Vera, M. C. (Canarian Health System) ;
Catherinot, E. (Hôpital Foch) ;
Chalumeau, M. (Necker Hospital for Sick Children) ;
Toubiana, J. (Necker Hospital for Sick Children) ;
Charbit, B. (Pasteur Institute) ;
Li, Z. (Pasteur Institute) ;
Pellegrini, S. (Pasteur Institute) ;
Cheng, M. P. (McGill University Health Centre) ;
Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Codina, A. (Institut de Recerca Sant Joan de Déu) ;
Çölkesen, F. (Necmettin Erbakan University) ;
Çölkesen, F. (Konya Training and Research Hospital) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Comarmond, C. (Pitié-Salpêtrière Hospital) ;
Dalmau, David (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Darley, D. R. (Vincent's Hospital Darlinghurst) ;
Dauby, N. (Université Libre de Bruxelles) ;
Dauger, S. (Robert-Debré University Hospital) ;
Le Bourgeois, F. (Robert-Debré University Hospital) ;
Levy, M. (Robert-Debré University Hospital) ;
de Pontual, L. (Hôpital Jean Verdier) ;
Dehban, A. (Sina Medical Complex) ;
Delplancq, G. (Centre de Génétique Humaine) ;
Demoule, A. (Sorbonne Université Médecine) ;
Diehl, J. L. (Georges Pompidou Hospital) ;
Dobbelaere, S. (AZ Delta) ;
Durand, Sophie (Institut Jérôme Lejeune) ;
Mircher, C. (Institut Jérôme Lejeune) ;
Rebillat, A. S. (Institut Jérôme Lejeune) ;
Vilaire, M. E. (Institut Jérôme Lejeune) ;
Eldars, W. (DMansoura University) ;
Elgamal, M. (Mansoura University) ;
Elnagdy, M. H. (Mansoura University) ;
Emiroglu, M. (Selcuk University) ;
Erdeniz, E. H. (Ondokuz Mayıs University) ;
Aytekin, S. E. (Necmettin Erbakan University) ;
Euvrard, R. (Centre Hospitalier Fleyriat) ;
Evcen, R. (Necmettin Erbakan University) ;
Faivre, L. (CHU Dijon) ;
Fartoukh, M. (APHP Tenon Hospital) ;
Philippot, Q. (APHP Tenon Hospital) ;
Faure, M. (Sorbonne Universités) ;
Arquero, M. F. (Hospital Clínico San Carlos (Madrid)) ;
Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Francois, B. (CHU Limoges) ;
Fumadó, Victoria (Universitat de Barcelona) ;
Fusco, Francesca (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ;
Ursini, M. V. (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ;
Solis, B. G. (Hospital Universitario La Paz (Madrid)) ;
de Diego, R. P. (Hospital Universitario La Paz (Madrid)) ;
van Den Rym, A. M. (Hospital Universitario La Paz (Madrid)) ;
Gaussem, P. (Department of Hematology. APHP. Hopital Européen Georges Pompidou. Inserm UMR-S1140) ;
Gil-Herrera, J. (Hos-pital General Universitario. Instituto de Investigación Sanitaria "Gregorio Marañón) ;
Gilardin, L. (Bégin Military Hospital) ;
Girona-Alarcón, Mònica (Hospital Sant Joan de Déu (Manresa)) ;
Goffard, J. C. (Université Libre de Bruxelles) ;
Gok, F. (Necmettin Erbakan University) ;
Yosunkaya, A. (Necmettin Erbakan University) ;
Thy, M. (Center for Clinical Investigation. Assistance Publique-Hôpitaux de Paris. Bichat-Claude Bernard University Hospital) ;
van Agtmael, Michiel (Department of Infectious Diseases. Amsterdam UMC) ;
Bomers, Marije (Department of Infectious Diseases. Amsterdam UMC) ;
Chouchane, Osoul (Department of Infectious Diseases. Amsterdam UMC) ;
Geerlings, Suzanne (Department of Infectious Diseases. Amsterdam UMC) ;
Goorhuis, Bram (Department of Infectious Diseases. Amsterdam UMC) ;
Grobusch, Martin P. (Department of Infectious Diseases. Amsterdam UMC) ;
Harris, Vanessa (Department of Infectious Diseases. Amsterdam UMC) ;
Hermans, Sabine M. (Department of Infectious Diseases. Amsterdam UMC) ;
Hovius, Joppe W. (Department of Infectious Diseases. Amsterdam UMC) ;
Nellen, Jeaninne (Department of Infectious Diseases. Amsterdam UMC) ;
Peters, Edgar (Department of Infectious Diseases. Amsterdam UMC) ;
van der Poll, Tom (Department of Infectious Diseases. Amsterdam UMC) ;
Prins, Jan M. (Department of Infectious Diseases. Amsterdam UMC) ;
Reijnders, Tom (Department of Infectious Diseases. Amsterdam UMC) ;
Schinkel, Michiel (Department of Infectious Diseases. Amsterdam UMC) ;
Sigaloff, Kim (Department of Infectious Diseases. Amsterdam UMC) ;
Stijnis, Cornelis S. (Department of Infectious Diseases. Amsterdam UMC) ;
van der Valk, Marc (Department of Infectious Diseases. Amsterdam UMC) ;
van Vugt, Michèle (Department of Infectious Diseases. Amsterdam UMC) ;
Joost Wiersinga, W. (Department of Infectious Diseases. Amsterdam UMC) ;
Algera, Anna Geke (Department of Intensive Care. Amsterdam UMC) ;
van Baarle, Frank (Department of Intensive Care. Amsterdam UMC) ;
Bos, Lieuwe D.. (Department of Intensive Care. Amsterdam UMC) ;
Botta, Michela (Department of Intensive Care. Amsterdam UMC) ;
de Bruin, Sanne (Department of Intensive Care. Amsterdam UMC) ;
Bulle, Esther (Department of Intensive Care. Amsterdam UMC) ;
Elbers, Paul (Department of Intensive Care. Amsterdam UMC) ;
Fleuren, Lucas (Department of Intensive Care. Amsterdam UMC) ;
Girbes, Armand (Department of Intensive Care. Amsterdam UMC) ;
Hagens, Laura (Department of Intensive Care. Amsterdam UMC) ;
Heunks, Leo (Department of Intensive Care. Amsterdam UMC) ;
Horn, Janneke (Department of Intensive Care. Amsterdam UMC) ;
van Mourik, Niels (Department of Intensive Care. Amsterdam UMC) ;
Paulus, Frederique (Department of Intensive Care. Amsterdam UMC) ;
Raasveld, Jorinde (Department of Intensive Care. Amsterdam UMC) ;
Schultz, Marcus J. (Department of Intensive Care. Amsterdam UMC) ;
Smit, Marry (Department of Intensive Care. Amsterdam UMC) ;
Stilma, Willemke (Department of Intensive Care. Amsterdam UMC) ;
Thoral, Patrick (Department of Intensive Care. Amsterdam UMC) ;
Tsonas, Anissa M (Department of Intensive Care. Amsterdam UMC) ;
de Vries, Heder (Department of Intensive Care. Amsterdam UMC) ;
Bax, Diane (Experimental Immunology. Amsterdam UMC) ;
Cloherty, Alex (Experimental Immunology. Amsterdam UMC) ;
Beudel, Martijn (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ;
Brouwer, Matthijs C. (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ;
Koning, Rutger (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ;
van de Beek, Diederik (Amsterdam UMC. University Medical Center) ;
Bogaard, H. J. (Department of Pulmonology. Amsterdam UMC) ;
de Brabander, J. (Department of Infectious Diseases. Amsterdam UMC) ;
de Bree, G. (Department of Infectious Diseases. Amsterdam UMC) ;
Bugiani, Marianna (Department of Pathology. Amsterdam UMC) ;
Geerts, Bart (Department of Anesthesiology. Amsterdam UMC) ;
Hollmann, Markus W. (Department of Anesthesiology. Amsterdam UMC) ;
Preckel, Benedikt (Department of Anesthesiology. Amsterdam UMC) ;
Veelo, Denise (Department of Anesthesiology. Amsterdam UMC) ;
Geijtenbeek, Theo (Department of Experimental Immunology. Amsterdam UMC) ;
Hafkamp, Florianne (Department of Experimental Immunology. Amsterdam UMC) ;
Hamann, Jorg (Amsterdam UMC Biobank Core Facility. Amsterdam UMC) ;
Hemke, Robert (Department of Radiology. Amsterdam UMC) ;
de Jong, Menno D. (Department of Medical Microbiology. Amsterdam UMC) ;
Schuurman, Alex (Department of Internal Medicine. Amsterdam UMC) ;
Teunissen, Charlotte (Neurochemical Laboratory. Amsterdam UMC) ;
Vlaar, Alexander P. J. (Department of Intensive Care. Amsterdam UMC) ;
Wouters, Dorien (Department of Clinical Chemistry. Amsterdam UMC) ;
Zwinderman, A. H. (Department of Clinical Epidemiology. Biostatistics and Bioinformatics. Amsterdam UMC) ;
Abel, Laurent (INSERM U1163. University of Paris. Imagine Institute) ;
Aiuti, Alessandro (San Raffaele Telethon Institute for Gene Therapy. IRCCS Ospedale San Raffaele) ;
Muhsen, Saleh Al (King Saud University) ;
Al-Mulla, Fahd (Kuwait University) ;
Anderson, Mark S. (University of California. San Francisco) ;
Feldman, Hagit Baris (Genetics Institute. Tel Aviv Sourasky Medical Center. Sackler Faculty of Medicine. Tel Aviv University) ;
Bogunovic, Dusan (Icahn School of Medicine) ;
Itan, Yuval (Icahn School of Medicine) ;
Bolze, Alexandre (Helix) ;
Cirulli, Elizabeth (Helix) ;
Barrett, Kelly Schiabor . (Helix) ;
Washington, Nicole (Helix) ;
Bondarenko, Anastasiia (Shupyk National Medical Academy for Postgraduate Education) ;
Bousfiha, Ahmed A. (Clinical Immunology Unit. Pediatric Infectious Disease Departement. Faculty of Medicine and Pharmacy. Averroes University Hospital. LICIA Laboratoire d'Immunologie Clinique. D'Inflammation et d'Allergie. Hassann II University) ;
Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ;
Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ;
Bustamante, Carlos D. (Stanford University) ;
Butte, Manish J (University of California) ;
Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ;
Chakravorty, Samya (Emory University. Department of Pediatrics. Children's Healthcare of Atlanta) ;
Christodoulou, John (Murdoch Children's Research Institute) ;
Le Mestre, S. (University of São Paulo) ;
Condino-Neto, Antonio (University of São Paulo) ;
Cooper, Megan A. (Washington University School of Medicine) ;
Dalgard, Clifton L. (American Genome Center. Uniformed Services University of the Health Sciences) ;
David, Alessia (Centre for Bioinformatics and System Biology. Department of Life Sciences. Imperial College London. South Kensington Campus) ;
DeRisi, Joseph L. (Chan Zuckerberg Biohub) ;
Desai, Murkesh (Bai Jerbai Wadia Hospital for Children) ;
Drolet, Beth A. (School of Medicine and Public Health. University of Wisconsin) ;
Espinosa, Sara (Instituto Nacional de Pediatria. (National Institute of Pediatrics)) ;
Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ;
Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Franco, Jose Luis (University of Antioquia) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research. Northwell Health USA) ;
Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ;
Hagin, David (Genetics Institute. Tel Aviv Sourasky Medical Center) ;
Halwani, Rabih (Sharjah Institute of Medical Research. College of Medicine. University of Sharjah) ;
Heath, Jim (Institute for Systems Biology) ;
Henrickson, Sarah E. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Hsieh, Elena (Anschutz Medical Campus) ;
Imai, Kohsuke (Riken) ;
Karamitros, Timokratis (Hellenic Pasteur Institute) ;
Kisand, Kai (University of Tartu) ;
Ku, Cheng-Lung. (Chang Gung University) ;
Lau, Yu-Lung (University of Hong Kong) ;
Ling, Yun (Shanghai Public Health Clinical Center. Fudan University) ;
Lucas, Carrie L. (Yale School of Medicine) ;
Mansouri, Davoud (Shahid Beheshti University of Medical Sciences) ;
Marodi, Laszlo (Semmelweis University Budapest) ;
Milner, Joshua (Columbia University Medical Center) ;
Mironska, Kristina (University Clinic for Children's Diseases) ;
Morio, Tomohiro (Tokyo Medical & Dental University Hospital) ;
Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ;
Novelli, Antonio (Bambino Gesù Children's Hospital) ;
Novelli, Giuseppe (Department of Biomedicine and Prevention. University of Rome "Tor Vergata) ;
O'Farrelly, Cliona (Trinity College) ;
Okada, Satoshi (Hiroshima University) ;
Ozcelik, Tayfun (Bilkent University) ;
Perez de Diego, Rebeca (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Planas, Anna M. (IIBB-CSIC. IDIBAPS) ;
Prando, Carolina (Faculdades Pequeno Príncipe. Instituto de Pesquisa Pelé Pequeno Príncipe) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Quintana-Murci, Luis (Institut Pasteur. CNRS. UMR 2000. Collège de France) ;
Renia, Laurent (Infectious Diseases Horizontal Technology Center. Singapore Immunology Network. Agency for Science Technology (A*STAR)) ;
Renieri, Alessandra (Medical Genetics. University of Siena) ;
Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Sancho Shimizu, Vanessa (Imperial College London) ;
Sankaran, Vijay (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Shahrooei, Mohammed (Saeed Pathobiology and Genetic Lab) ;
Snow, Andrew (Uniformed Services University of the Health Sciences) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ;
Turvey, Stuart (University of British Columbia) ;
Uddin, Furkan (Holy Family Red Crescent Medical College. Centre for Precision Therapeutics. NeuroGen Children's Healthcare. Genetics and Genomic Medicine Centre. NeuroGen Children's Healthcare) ;
Uddin, Mohammed J. (Centre for Applied Genomics. Department of Genetics and Genome Biology. Hospital for Sick Children) ;
van de Beek, Diederik (Amsterdam UMC. University Medical Center) ;
Vazquez, Sara E. (University of California) ;
Vinh, Donald C. (McGill University Health Centre) ;
von Bernuth, Horst (Charité-Berlin University Hospital Center) ;
Zawadzki, Pawel (Molecular Biophysics Division. Faculty of Physics. A. Mickiewicz University) ;
Jing, H. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Tung, W. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Shaw, E. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Jing, Huie (NIAID Clinical Genomics Program. National Institutes of Health) ;
Tung, Wesley (NIAID Clinical Genomics Program. National Institutes of Health) ;
Shafer, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zheng, L. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zhang, Z. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Kubo, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Chauvin, S. D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ;
Shaw, Elana (NIAID Clinical Genomics Program. National Institutes of Health) ;
Lenardo, M. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Luthers, Christopher R. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ;
Bauman, Bradly M. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ;
Shafer, Samantha (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zheng, Lixin (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Zhang, Zinan (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Kubo, Satoshi (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Chauvin, Samuel D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Lenardo, Michael (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ;
Lack, Justin (NIAID Collaborative Bioinformatics Resource. Frederick National Laboratory for Cancer Research. Leidos Biomedical Research. Inc.) ;
Karlins, Eric (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Hupalo, Daniel M. (American Genome Center. Uniformed Services University of the Health Sciences) ;
Rosenberger, John (American Genome Center. Uniformed Services University of the Health Sciences) ;
Sukumar, Gauthaman (American Genome Center. Uniformed Services University of the Health Sciences) ;
Wilkerson, Matthew D. (American Genome Center. Uniformed Services University of the Health Sciences) ;
Zhang, Xijun (American Genome Center. Uniformed Services University of the Health Sciences) ;
Universitat Autònoma de Barcelona
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. [...]
2020 -  10.1126/science.abd4570
Science, Vol. 370 Núm. 6515 (23 2020) , p. eabd4570
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4 p, 721.0 KB |
Detection of SARS-CoV-2 in a cat owned by a COVID-19−affected patient in Spain
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Segalés Coma, Joaquim (Universitat Autònoma de Barcelona. Departament de Sanitat i d'Anatomia Animals) ;
Puig, Mariona (Hospital Veterinari Sant Mori S.L) ;
Rodon, Jordi (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal) ;
Avila-Nieto, Carlos (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Carrillo, Jorge (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Cantero, Guillermo (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal) ;
Terrón, Maria Teresa (Hospital Veterinari Sant Mori S.L) ;
Cruz, Sílvia (Hospital Veterinari Sant Mori S.L) ;
Parera, Mariona (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Noguera-Julian, Marc (Universitat de Vic - Universitat Central de Catalunya) ;
Izquierdo Useros, Nuria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Guallar, Victor (Institució Catalana de Recerca i Estudis Avançats) ;
Vidal Barba, Enric (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal) ;
Valencia, Alfonso (Institució Catalana de Recerca i Estudis Avançats) ;
Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Blanco, Julià (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Vergara-Alert, Júlia (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal)
COVID-19 is the most devastating pandemic in recent history. As with many emerging infectious diseases, it is of zoonotic origin, meaning that animals played a major role in the initial transmission events. [...]
2020 - 10.1073/pnas.2010817117
Proceedings of the National Academy of Sciences of the United States of America, Vol. 117 (september 2020) , p. 24790-24793
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50 p, 829.6 KB |
¿Por qué las mujeres con cáncer de mama deben estar guapas y los hombres con cáncer de próstata pueden ir sin afeitar? : Oncología, disidencia y cultura hegemónica
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Sumalla, Enric-Claudi (Institut Català d'Oncologia) ;
Castejón Itey, Vanessa (Institut Català d'Oncologia) ;
Ochoa, Cristian (Institut Català d'Oncologia) ;
Blanco Guillermo, Ignacio (Institut Català d'Oncologia)
El universo oncológico, aparentemente, constituye un ámbito de profundos consensos; aliviar el sufrimiento de pacientes y familias, la búsqueda de una cura efectiva o erradicar el estigma asociado al diagnóstico son objetivos que generan un amplio acuerdo social. [...]
The oncology universe apparently is an area of deep consensus; alleviate the suffering of patients and families, the search for an effective cure or eradicate the stigma associated with the diagnosis are objectives that generate broad societal agreement. [...]
2013 - 10.5209/rev_PSIC.2013.v10.41946
Psicooncología, Vol. 10 Núm. 1 (2013) , p. 7-56
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28.
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36 p, 3.1 MB |
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
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Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ;
Moreno-Mendoza, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Rajmil, Osvaldo (Institut d'Investigació Biomèdica Sant Pau) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rodríguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ;
Ruiz-Castañé, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Universitat Autònoma de Barcelona
Purpose: in about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. [...]
2019 - 10.1038/s41436-018-0037-1
Genetics in Medicine, Vol. 21, issue 1 (Jan. 2019) , p. 189-194
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29.
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12 p, 2.3 MB |
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
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Castellanos, Elisabeth (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Gel, Bernat (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Rosas, Inma (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Tornero, Eva (Institut Català d'Oncologia) ;
Santín, Sheila (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Pluvinet, Raquel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Velasco, Juan (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Sumoy, Lauro (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Del Valle, Jesús (Institut Català d'Oncologia) ;
Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Navarro, Matilde (Institut Català d'Oncologia) ;
Brunet, Joan (Institut Català d'Oncologia) ;
Pineda, Marta (Institut Català d'Oncologia) ;
Feliubadaló, Lidia (Institut Català d'Oncologia) ;
Capellá, G. (Gabriel) (Institut Català d'Oncologia) ;
Lázaro, Conxi (Institut Català d'Oncologia) ;
Serra, Eduard (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. [...]
2017 - 10.1038/srep39348
Scientific reports, 2017, p. 1-12
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30.
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11 p, 4.8 MB |
Geographical distribution of COPD prevalence in Europe, estimated by an inverse distance weighting interpolation technique
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Blanco Guillermo, Ignacio (Sociedad Española de Neumología y Cirugía Torácica) ;
Diego, Isidro (Universidad de Oviedo) ;
Bueno, Patricia (Hospital de Jarrio, Asturias) ;
Fernández, Eloy (Hospital Universitario de Cabueñes (Gijón)) ;
Casas-Maldonado, Francisco (Hospital Universitario San Cecilio (Granada)) ;
Esquinas, Cristina (Hospital Universitari Vall d'Hebron) ;
Soriano, Joan B.. (Hospital Universitario de la Princesa (Madrid)) ;
Miravitlles, Marc (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
Existing data on COPD prevalence are limited or totally lacking in many regions of Europe. The geographic information system inverse distance weighted (IDW) interpolation technique has proved to be an effective tool in spatial distribution estimation of epidemiological variables, when real data are few and widely separated. [...]
2017 - 10.2147/COPD.S150853
International journal of COPD, Vol. 13 (december 2017) , p. 57-67
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31.
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12 p, 371.6 KB |
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Milne, Roger L. (Cancer Epidemiology Centre (Melbourne, Austràlia)) ;
Kuchenbaecker, Karoline (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Vaclová, Tereza (Centro Nacional de Investigaciones Oncológicas) ;
Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ;
Alonso, Rosario (Centro Nacional de Investigaciones Oncológicas) ;
Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy) ;
Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ;
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Durán, Mercedes (Universidad de Valladolid) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Konstantopoulou, Irene (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ;
Martínez-Bouzas, Cristina (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Andrés Conejero, Raquel (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ;
Soucy, Penny (Centre Hospitalier Universitaire de Québec. Cancer Genomics Laboratory) ;
McGuffog, Lesley (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Barrowdale, Daniel (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Lee, Andrew (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
SWE-BRCA, None (Department of Oncology, Lund University, Lund, Sweden) ;
Arver, Brita (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Loman, Niklas (Department of Oncology, Lund University Hospital, Lund, Sweden) ;
Ehrencrona, Hans (Department of Clinical Genetics, Lund University Hospital, Lund, Sweden) ;
Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America) ;
Beattie, Mary S. (Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America) ;
Domchek, Susan M. (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Nathanson, Katherine (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Rebbeck, Timothy R. (Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ;
Arun, Banu K. (University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America) ;
Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Walsh, Christine (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America) ;
Whittemore, Alice S. (Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America) ;
Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America) ;
Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ;
Hopper, John L (Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia) ;
Terry, Mary Beth (Department of Epidemiology, Columbia University, New York, New York, United States of America) ;
Buys, Saundra (Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America) ;
Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics) ;
Dorfling, Cecilia M. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ;
van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ;
Steele, Linda (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Hansen, Thomas v. O. (Copenhagen University Hospital Rigshospitalet) ;
Jønson, Lars (Copenhagen University Hospital Rigshospitalet) ;
Ejlertsen, Bent (Copenhagen University Hospital Rigshospitalet) ;
Gerdes, Anne-Marie (Copenhagen University Hospital Rigshospitalet) ;
Infante, Mar (Universidad de Valladolid) ;
Herráez, Belén (Centro Nacional de Investigaciones Oncológicas) ;
Moreno, Leticia Thais (Centro Nacional de Investigaciones Oncológicas) ;
Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ;
Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ;
Weeman, Kisa (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ;
Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ;
Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ;
Zaffaroni, Daniela (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ;
Scuvera, Giulietta (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ;
Bonanni, Bernardo (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy) ;
Mariette, Frederique (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ;
Volorio, Sara (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ;
Viel, Alessandra (Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy) ;
Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy) ;
Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ;
Ottini, Laura (Department of Molecular Medicine, "Sapienza" University, Rome, Italy) ;
Tibiletti, Maria Grazia (UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy) ;
Radice, Paolo (Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ;
Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ;
Garber, Judy (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Ellis, Steve (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Frost, Debra (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Platte, Radka (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Fineberg, Elena (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Evans, Gareth (Manchester Academic Health Sciences Centre) ;
Lalloo, Fiona (Manchester Academic Health Sciences Centre) ;
Izatt, Louise (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ;
Eeles, Ros (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom) ;
Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, United Kingdom) ;
Davidson, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit)) ;
Cole, Trevor (Birmingham Women's Hospital) ;
Eccles, Diana M (Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom) ;
Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ;
Hodgson, Shirley (Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom) ;
Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ;
Tischkowitz, Marc (Addenbrookes Hospital (Cambridge, Regne Unit)) ;
Douglas, Fiona (Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom) ;
Porteous, Mary (South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom) ;
Side, Lucy (Great Ormond Street Hospital for Children (Londres)) ;
Walker, Lisa (Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom) ;
Morrison, Patrick (Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom) ;
Donaldson, Alan (South West Regional Genetics Service, Bristol, United Kingdom) ;
Kennedy, John (Trinity College Dublin) ;
Foo, Claire (Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom) ;
Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America) ;
Schmutzler, Rita Katharina (University Hospital of Cologne (Colònia, Alemanya). Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO)) ;
Wappenschmidt, Barbara (University Hospital of Cologne (Colònia, Alemanya). Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO)) ;
Rhiem, Kerstin (University Hospital of Cologne (Colònia, Alemanya). Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO)) ;
Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany) ;
Meindl, Alfons (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ;
Ditsch, Nina (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ;
Arnold, Norbert (Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ;
Plendl, Hans Jörg (Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ;
Niederacher, Dieter (University Hospital of Düsseldorf (Alemanya)) ;
Sutter, Christian (Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ;
Wang-Gohrke, Shan (University Hospital of Ulm (Alemanya)) ;
Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany) ;
Preisler-Adams, Sabine (Institute of Human Genetics, University of Münster, Münster, Germany) ;
Kast, Karin (Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany) ;
Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany) ;
Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany) ;
Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ;
Sinilnikova, Olga M. (Centre National de la Recherche Scientifique (França)) ;
Mazoyer, Sylvie (Centre National de la Recherche Scientifique (França)) ;
Damiola, Francesca (Centre National de la Recherche Scientifique (França)) ;
Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ;
Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ;
Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America) ;
Tucker, Kathy (Prince of Wales Hospital (Australia)) ;
Backes, Floor (Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America) ;
Rodríguez, Gustavo (Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America) ;
Brewster, Wendy (Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America) ;
Wakeley, Katie (For Tufts Medical Center, Boston, Massachusetts, United States of America) ;
Rutherford, Thomas (Yale University School of Medicine, New Haven, Connecticut, United States of America) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ;
Aittomäki, Kristiina (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ;
Rookus, Matti A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
van Os, Theo A. M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands) ;
van der Kolk, Lizet (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
de Lange, J. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Meijers-Heijboer, Hanne E. J. (Amsterdam Universitair Medische Centra (Amsterdam, Països Baixos)) ;
van der Hout, A. H. (University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands) ;
van Asperen, Christi J. (Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands) ;
Gómez Garcia, Encarna B. (Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands) ;
Hoogerbrugge, Nicoline (Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands) ;
Collée, J. Margriet (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ;
van Deurzen, Carolien H. M. (Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ;
van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ;
Devilee, Peter (Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands) ;
HEBON, None (The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands) ;
Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ;
Lázaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ;
Teulé, Alex (Institut d'Investigació Biomèdica de Bellvitge) ;
Menéndez, Mireia (Institut d'Investigació Biomèdica de Bellvitge) ;
Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Cybulski, Cezary (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Gronwald, Jacek (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Durda, Katarzyna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Jaworska-Bieniek, Katarzyna (Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland) ;
Johannsson, Oskar Th. (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Maugard, Christine (Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France) ;
Montagna, Marco (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Tognazzo, Silvia (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Teixeira, Manuel R. (Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal) ;
Healey, Sue (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ;
Investigators, kConFab (Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia) ;
Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ;
Guidugli, Lucia (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ;
Lindor, Noralane (Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America) ;
Slager, Susan (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ;
Szabo, Csilla I. (Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America) ;
Vijai, Joseph (Memorial Sloan Kettering Cancer Center) ;
Robson, Mark (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ;
Kauff, Noah (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ;
Zhang, Liying (Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ;
Rau-Murthy, Rohini (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ;
Fink-Retter, Anneliese (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Singer, Christian F. (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Rappaport, Christine (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Geschwantler Kaulich, Daphne (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Pfeiler, Georg (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Tea, Muy-Kheng (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Berger, Andreas (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America) ;
Greene, Mark H. (National Cancer Institute (Rockville, Estats Units d'Amèrica)) ;
Mai, Phuong L. (National Cancer Institute (Rockville, Estats Units d'Amèrica)) ;
Lejbkowicz, Flavio (Clalit National Israeli Cancer Control Center, Haifa, Israel) ;
Andrulis, Irene L. (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada) ;
Mulligan, Anna Marie (University of Toronto) ;
Glendon, Gord (Mount Sinai Hospital (Toronto, Canadà)) ;
Toland, Amanda Ewart (Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America) ;
Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ;
Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ;
Sunde, Lone (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Thomassen, Mads (Odense University Hospital (Dinamarca)) ;
Kruse, Torben A. (Odense University Hospital (Dinamarca)) ;
Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Friedman, Eitan (Sheba Medical Center, Tel Aviv, Israel) ;
Laitman, Yael (Sheba Medical Center, Tel Aviv, Israel) ;
Shimon, Shani Paluch (Sheba Medical Center, Tel Aviv, Israel) ;
Simard, Jacques (Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada) ;
Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Offit, Kenneth (Memorial Sloan Kettering Cancer Center) ;
Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ;
Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ;
Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Universitat Autònoma de Barcelona
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. [...]
2014 - 10.1371/journal.pgen.1004256
PLoS Genetics, Vol. 10 (april 2014)
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32.
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20 p, 4.0 MB |
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine
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Castellsagué, Joan (Institut Català d'Oncologia) ;
Gel, Bernat (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Fernández-Rodríguez, Juana (Institut Català d'Oncologia) ;
Llatjós, Roger (Institut d'Investigació Biomèdica de Bellvitge) ;
Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ;
Benavente, Yolanda (Institut Català d'Oncologia) ;
Pérez-Sidelnikova, Diana (Institut d'Investigació Biomèdica de Bellvitge) ;
Garcia del Muro, Xavier (Institut Català d'Oncologia) ;
Viñals, Joan Maria (Institut d'Investigació Biomèdica de Bellvitge) ;
Vidal, August (Institut d'Investigació Biomèdica de Bellvitge) ;
Valdés-Mas, Rafael (Instituto Universitario de Oncología del Principado de Asturias (Oviedo)) ;
Terribas, Ernest (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
López-Doriga, Adriana (Institut Català d'Oncologia) ;
Pujana, Miguel Angel (Institut Català d'Oncologia) ;
Capellá, G. (Gabriel) (Institut Català d'Oncologia) ;
Puente, Xose S. (Instituto Universitario de Oncología del Principado de Asturias (Oviedo)) ;
Serra, Eduard (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ;
Villanueva Garatachea, Alberto (Institut Català d'Oncologia) ;
Lázaro, Conxi (Institut Català d'Oncologia)
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas that can arise either sporadically or in association with neurofibromatosis type 1 (NF1). These aggressive malignancies confer poor survival, with no effective therapy available. [...]
2015 - 10.15252/emmm.201404430
EMBO molecular medicine, Vol. 7, No. 5 (2015) , p. 608-627
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33.
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11 p, 165.4 KB |
Efectos de la primera visita de Consejo Genético sobre la percepción de riesgo y el malestar emocional
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González, Melinda (Universitat Autònoma de Barcelona) ;
Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ;
Blasco, Tomás (Universitat Autònoma de Barcelona)
Objetivo: Analizar los efectos que provoca la primera visita de consejo genético para cáncer hereditario sobre la percepción de riesgo, y el malestar emocional en pacientes que acuden por primera vez a la Unidad de Consejo Genético (UCG) por historia familiar de cáncer de mama, ovario o colon hereditario. [...]
Objective: To analyze how perceived risk and emotional distress were affected by the first visit to a Genetic Counseling Unit in patients with a family history of hereditarian breast cancer, ovarian cancer, or colorectal cancer. [...]
2011 - 10.5209/rev_PSIC.2011.v8.n2-3.37891
Psicooncología, Vol. 8, núm. 2-3 (2011) , p. 441-451
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34.
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14 p, 2.9 MB |
Exploring the link between MORF4L1 and risk of breast cancer
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Martrat, Griselda (Institut d'Investigació Biomèdica de Bellvitge) ;
Maxwell, Christopher A. (Institut d'Investigació Biomèdica de Bellvitge) ;
Tominaga, Emiko (The University of Texas Health Science Center at San Antonio) ;
Porta de la Riva, Montserrat (Institut d'Investigació Biomèdica de Bellvitge) ;
Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge) ;
Gomez-Baldo, Laia (Institut d'Investigació Biomèdica de Bellvitge) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ;
Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge) ;
Brunet, Joan (Hospital Universitari de Girona Doctor Josep Trueta) ;
Aguilar, Helena (Institut d'Investigació Biomèdica de Bellvitge) ;
Fernández-Rodríguez, Juana (Hospital Universitari de Girona Doctor Josep Trueta) ;
Seal, Sheila (Institute of Cancer Research (Sutton, Regne Unit)) ;
Renwick, Anthony (Institute of Cancer Research (Sutton, Regne Unit)) ;
Rahman, Nazneen (Institute of Cancer Research (Sutton, Regne Unit)) ;
Kühl, Julia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ;
Neveling, Kornelia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ;
Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ;
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Castellà, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Easton, Douglas F. (University of Cambridge. Department of Public Health and Primary Care) ;
Peock, Susan (University of Cambridge. Department of Public Health and Primary Care) ;
Cook, Margaret (University of Cambridge. Department of Public Health and Primary Care) ;
Oliver, Clare T. (University of Cambridge. Department of Public Health and Primary Care) ;
Frost, Debra (University of Cambridge. Department of Public Health and Primary Care) ;
Platte, Radka (University of Cambridge. Department of Oncology) ;
Evans, Gareth (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ;
Lalloo, Fiona (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ;
Eeles, Rosalind (The Institute of Cancer Research (Sutton, Regne Unit)) ;
Izatt, Louise (Guy's and St Thomas NHS Foundation Trust (Londres, Regne Unit)) ;
Chu, Carol (Yorkshire Regional Genetics Service (Leeds, Regne Unit)) ;
Davids, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit)) ;
Ong, Kai-Ren (Birmingham Women's Hospital) ;
Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ;
Douglas, Fiona (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit)) ;
Hodgson, Shirley (University of London. St George's Hospital) ;
Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ;
Morrison, Patrick J. (Northern Ireland Regional Genetics Centre (Belfast, Regne Unit)) ;
Porteous, Mary (South East of Scotland Regional Genetics Service (Edimburg, Regne Unit)) ;
Peterlongo, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ;
Manoukian, Siranoush (Fondazione IRCCS INT (Milà, Itàlia)) ;
Peissel, Bernard (Fondazione IRCCS INT (Milà, Itàlia)) ;
Zaffaroni, Daniela (Fondazione IRCCS INT (Milà, Itàlia)) ;
Roversi, Gaia (Fondazione IRCCS INT (Milà, Itàlia)) ;
Barile, Monica (Istituto Europeo di Oncologia (Milà, Itàlia)) ;
Viel, Alessandra (Centro di Riferimento Oncologico (Aviano, Itàlia)) ;
Pasini, Barbara (University of Turin. Department of Genetics, Biology and Biochemistry (Torí, Itàlia)) ;
Ottini, Laura (Sapienza University of Rome. Department of Molecular Medicine) ;
Putignano, Anna Laura (University of Florence. Department of Clinical Physiopathology (Florència, Itàlia)) ;
Savarese, Antonella (Regina Elena Cancer Institute (Roma, Itàlia)) ;
Bernard, Loris (IEO. Department of Experimental Oncology (Milà, Itàlia)) ;
Radice, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ;
Healey, Sue (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ;
Spurdle, Amanda (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ;
Chen, Xiaoqing (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ;
Beesley, Jonathan (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ;
Rookus, Matti A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Verhoef, Senno (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ;
Tilanus-Linthorst, Madeleine A. (Erasmus MC-Daniel den Hoed Cancer Center (Rotterdam, Països Baixos)) ;
Vreeswijk, Maaike P. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ;
Asperen, Christi J. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ;
Bodmer, Danielle (Radboud University Nijmegen Medical Center. Department of Human Genetics (Nijmegen, Països Baixos)) ;
Ausems, Margreet G. E. M. (University Medical Center Utrecht. Department of Medical Genetics (Utrecht, Països Baixos)) ;
van Os, Theo A. (Academic Medical Center, Department of Clinical Genetics (Amsterdam, Països Baixos)) ;
Blok, Marinus J. (University Hospital Maastricht. Department of Clinical Genetics (Maastricht, Països Baixos)) ;
Meijers-Heijboer, Hanne E. J. (VU Medical Center. Department of Clinical Genetics (Amsterdam, Països Baixos)) ;
Hogervorst, Frans B. L. (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ;
Goldgar, David E. (University of Utah School of Medicine. Department of Dermatology (Salt Lake City, Estats Units d'Amèrica)) ;
Buys, Saundra (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ;
John, Esther M. (Cancer Prevention Institute of California (Fremont, Estats Units d'Amèrica)) ;
Miron, Alexander (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica). Department of Cancer Biology) ;
Southey, Melissa (The University of Melbourne. Melbourne School of Population Health (Austràlia)) ;
Daly, Mary B. (Fox Chase Cancer Center. Division of Population Science (Philadelphia, Estats Units d'Amèrica)) ;
Harbst, Katja (Lund University. Department of Oncology (Lund, Suècia)) ;
Borg, Åke (Lund University. Department of Oncology (Lund, Suècia)) ;
Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Barbany-Bustinza, Gisela (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Ehrencrona, Hans (Uppsala University. Departament of Genetics and Pathology (Uppsala, Suècia)) ;
Stenmark-Askmalm, Marie (Hälsouniversitetet Universitetssjukhuset. Department of Oncology (Linköping, Suècia)) ;
Kaufman, Bella (Chaim Sheba Medical Center. The Institute of Oncology (Ramat Gan, Israel)) ;
Laitman, Yael (Chaim Sheba Medical Center (Israel)) ;
Milgrom, Roni (Chaim Sheba Medical Center (Israel)) ;
Friedman, Eitan (Chaim Sheba Medical Center (Israel)) ;
Domchek, Susan M. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ;
Nathanson, Katherine L. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ;
Rebbeck, Timothy R. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ;
Johannsson, Oskar (20A Landspitali-LSH v/Hringbraut. Department of Oncology (Reykjavik, Islàndia)) ;
Couch, Fergus J. (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ;
Wang, Xianshu (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ;
Fredericksen, Zachary (Mayo Clinic. Department of Health Sciences Research (Rochester, Estats Units d'Amèrica)) ;
Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ;
Morros, Rosa (South East of Scotland Regional Genetics Service, Western General Hospital (Edimburg, Regne Unit)) ;
Pientka, Friederike K. (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ;
Depping, Reinhard (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ;
Caldes, Trinidad (Hospital Clínico San Carlos (Madrid)) ;
Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Espanya)) ;
Heikkinen, Tuomas (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ;
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge) ;
Tominaga, Kaoru (The University of Texas Health Science Center at San Antonio) ;
Cerón, Julián (Institut d'Investigació Biomèdica de Bellvitge) ;
Antoniou, Antonis C. (University of Cambridge. Department of Public Health and Primary Care) ;
Fert Ferrer, Sandra (Hôtel Dieu Centre Hospitalier (Chambéry, França)) ;
Collonge-Rame, Marie-Agnès (Centre Hospitalier Universitaire de Besançon (Besançon, França)) ;
Mortemousque, Isabelle (Centre Hospitalier Universitaire Bretonneau (Tours, França)) ;
McGuffog, Lesley (University of Cambridge. Department of Public Health and Primary Care) ;
Chenevix-Trench, Georgia (Queensland Institute of Medical Research (Brisbane, Austràlia)) ;
Pereira-Smith, Olivia M. (The University of Texas Health Science Center at San Antonio) ;
Nevanlinna, Heli (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ;
Hamann, Ute (Deutsches Krebsforschungszentrum (Heidelberg, Alemanya)) ;
Torres, Diana (Pontificia Universidad Javeriana. Instituto de Genética Humana (Bogota, Colòmbia)) ;
Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ;
Godwin, Andrew K. (University of Kansas Medical Center. Department of Pathology and Laboratory MedicineCenter (Kansas, Estats Units d'Amèrica)) ;
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology. Laboratory of Molecular Oncology (Sant Petersburg, Rússia)) ;
Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics) ;
Sinilnikova, Olga M. (Centre Hospitalier Universitaire de Lyon. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (Lyon, França)) ;
Stoppa-Lyonnet, Dominique (Institut Curie) ;
Mazoyer, Sylvie (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ;
Verny-Pierre, Carole (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ;
Castera, Laurent (Institut Curie) ;
De Pauw, Antoine (Institut Curie) ;
Bignon, Yves-Jean (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ;
Uhrhammer, Nancy (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ;
Peyrat, Jean-Philippe (Centre Oscar Lambret. Laboratoire d'Oncologie Moléculaire Humaine (Lille, França)) ;
Vennin, Philippe (Centre Oscar Lambret. Consultation d'Oncogénétique (Lille, França)) ;
The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) ;
The Netherlands Cancer Institute.
Hereditary Breast and Ovarian Cancer Group (HEBON) ;
University of Utah School of Medicine.
Breast Cancer Family Registry (Salt Lake City, Estats Units d'Amèrica) ;
Lund University.
Swedish Breast Cancer Study (Lund, Suècia) ;
Fédération Nationale des Centres de Lutte Contre le Cancer.
Groupe Génétique et Cancer (Lyon, França)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. [...]
2011 - 10.1186/bcr2862
Breast cancer research, Vol. 13, Núm. R40 (4 2011) -14
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