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13 p, 1.3 MB |
Sex differences in COVID-19 mortality risk in patients on kidney function replacement therapy
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Vart, P. (University Medical Center Groningen) ;
Duivenvoorden, R. (Radboud University Medical Center) ;
Adema, A. (Medisch Centrum Leeuwarden) ;
Covic, A. (Dr Ci Parhon Hospital) ;
Finne, P. (Helsinki University Central Hospital and Helsinki University) ;
Braak, N.H.t. (Zuyderland Ziekenhuis) ;
Laine, K. (Satakunta Central Hospital) ;
Noordzij, M. (University of Groningen) ;
Schouten, M. (Tergooi Medical Center) ;
Jager, K.J. (Amsterdam Public Health Research Institute) ;
Gansevoort, R.T. (University of Groningen) ;
van der Net, J.B. (Albert Schweitzer Hospital) ;
Essig, M. (APHP Paris-Saclay University) ;
du Buf-Vereijken, P.W.G. (Amphia Hospital) ;
van Ginneken, B. (Amphia Hospital) ;
Maas, N. (Amphia Hospital) ;
van Jaarsveld, B.C. (Amsterdam UMC) ;
Bemelman, F.J. (Amsterdam UMC) ;
Klingenberg-Salahova, F. (Amsterdam UMC) ;
Heenan-Vos, F. (Amsterdam UMC) ;
Vervloet, M.G. (Amsterdam UMC) ;
Nurmohamed, A. (Amsterdam UMC) ;
Vogt, L. (Amsterdam UMC) ;
Abramowicz, D. (University Hospital Antwerp (Bèlgica)) ;
Verhofstede, S. (University Hospital Antwerp (Bèlgica)) ;
Maoujoud, O. (Cadi Ayyad University) ;
Malfait, T. (AZ Delta) ;
Fialova, J. (B. Braun Avitum) ;
Melilli, E. (Hospital Universitari de Bellvitge) ;
Favà, A. (Hospital Universitari de Bellvitge) ;
Cruzado, J.M. (Hospital Universitari de Bellvitge) ;
Perez, N.M. (Hospital Universitari de Bellvitge) ;
Lips, J. (Bernhoven Hospital) ;
Krepel, H. (Bravis Hospital) ;
Adilovic, H. (Cantonal Hospital Zenica) ;
Radulescu, D. (Emergency Clinical Hospital 'Sf. Ioan') ;
Hengst, M. (Catharina Hospital) ;
Konings, C. (Catharina Hospital) ;
Rydzewski, A. (Central Clinical Hospital of the Ministry of Interior) ;
Braconnier, P. (Centre Hospitalier du Nord) ;
Weis, D. (Centre Hospitalier du Nord) ;
Gellert, R. (Centre of Postgraduate Medical Education) ;
Oliveira, João (Centrodial (Outpatient Dialysis Center)) ;
Alferes, D.G. (Centro Hospitalar Vila Nova de Gaia/Espinho) ;
Zakharova, E.V. (City Hospital N.a. S.P. Botkin) ;
Ambühl, P.M. (City Hospital Zürich) ;
Guidotti, R. (City Hospital Zürich) ;
Walker, A. (City Hospital Zürich) ;
Lepeytre, F. (Claude Galien Hospital Ramsay Santé) ;
Rabaté, C. (Claude Galien Hospital Ramsay Santé) ;
Rostoker, G. (Claude Galien Hospital Ramsay Santé) ;
Marques, S. (Clínica de Hemodiálise de Felgueiras) ;
Azasevac, T. (University of Novi Sad) ;
Majstorovic, G.S. (University of Novi Sad) ;
Katicic, D. (Croatian Society of Nephrology) ;
ten Dam, M. (CWZ Nijmegen) ;
Krüger, T. (DaVita Geilenkirchen) ;
Brzosko, S. (DaVita) ;
Liakopoulos, V. (Aristotle University of Thessaloniki) ;
Zanen, A.L. (Deventer Ziekenhuis) ;
Logtenberg, S.J.J. (Dianet Dialysis Center) ;
Fricke, L. (Dialysis Center Bochum) ;
Kuryata, O. (Dnipro State Medical University) ;
Slebe, J.J.P. (Elyse Klinieken Voor Nierzorg) ;
ElHafeez, S.A. (High Institute of Public Health-Alexandria University) ;
Kemlin, D. (Erasme Hospital) ;
van de Wetering, J. (University Medical Center Rotterdam) ;
Reinders, M.E.J. (University Medical Center Rotterdam) ;
Hesselink, D.A. (University Medical Center Rotterdam) ;
Kal-van Gestel, J. (University Medical Center Rotterdam) ;
Eiselt, J. (Faculty of Medicine in Pilsen. Charles University) ;
Kielberger, L. (Faculty of Medicine in Pilsen. Charles University) ;
El-Wakil, H.S. (Faculty of Medicine-Alexandria University) ;
Verhoeven, M. (Franciscus Gasthuis & Vlietland) ;
Logan, I. (Freeman Hospital) ;
Canal Girol, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Facundo, Carme (Institut d'Investigació Biomèdica Sant Pau) ;
Ramos, A.M. (Hospital Universitario Fundación Jiménez Díaz) ;
Debska-Slizien, A. (Gdansk Medical University) ;
Veldhuizen, N.M.H. (Gelre Hospital) ;
Tigka, E. (General Hospital of Athens "G. Gennimatas") ;
Konsta, M.A.P. (General Hospital of Serres) ;
Panagoutsos, S. (General University Hospital of Alexandroupolis) ;
Mallamaci, F. (Grande Ospedale Metropolitano and CNR) ;
Postorino, A. (Grande Ospedale Metropolitano and CNR) ;
Cambareri, F. (Grande Ospedale Metropolitano and CNR) ;
Matceac, I. (Dr Ci Parhon Hospital) ;
Nistor, I. (Dr Ci Parhon Hospital) ;
Groeneveld, J.H.M. (Haaglanden Medisch Centrum) ;
Jousma, J. (Haaglanden Medisch Centrum) ;
van Buren, M. (Haga Hospital) ;
Diekmann, Fritz (Hospital Clínic i Provincial de Barcelona) ;
Oppenheimer, Federico (Hospital Clínic i Provincial de Barcelona) ;
Blasco Pelicano, Miquel (Hospital Clínic i Provincial de Barcelona) ;
Pereira, T.A. (Hospital Curry Cabral-Central Lisbon University Hospital Center) ;
Santos, A.C.S. (Universidade Federal de Minas Gerais) ;
Arias Cabrales, Carlos E (Hospital del Mar (Barcelona, Catalunya)) ;
Crespo, Marta (Hospital del Mar (Barcelona, Catalunya)) ;
Llinàs Mallol, Laura (Hospital del Mar (Barcelona, Catalunya)) ;
Buxeda, Anna (Hospital del Mar (Barcelona, Catalunya)) ;
Burballa, Carla (Hospital del Mar (Barcelona, Catalunya)) ;
Redondo-Pachón, Dolores (Hospital del Mar (Barcelona, Catalunya)) ;
Jimenez, Maria Dolores Arenas (Hospital del Mar (Barcelona, Catalunya)) ;
Mendoza-Valderrey, Alberto (Hospital del Mar (Barcelona, Catalunya)) ;
Martins, A.C. (Centro Hospitalar de Lisboa Ocidental) ;
Mateus, C. (Centro Hospitalar de Lisboa Ocidental) ;
Alvila, G. (Centro Hospitalar de Lisboa Ocidental) ;
Laranjinha, I. (Centro Hospitalar de Lisboa Ocidental) ;
Hofstra, J.M. (Hospital Gelderse Vallei) ;
Siezenga, M.A. (Hospital Gelderse Vallei) ;
Franco, A. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Arroyo, D. (Hospital General Universitario Gregorio Marañón) ;
Castellano, S. (Hospital General Universitario Gregorio Marañón) ;
Rodríguez-Ferrero, M.L. (Hospital General Universitario Gregorio Marañón) ;
Manzanos, S.B. (Hospital Obispo Polanco) ;
Barrios, R.H.S. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Lemahieu, W. (Imelda Hospital) ;
Bartelet, K. (Isala) ;
Dirim, A.B. (Istanbul University) ;
Demir, E. (Istanbul University) ;
Sever, M.S. (Istanbul University) ;
Turkmen, A. (Istanbul University) ;
Şafak, S. (Istanbul University) ;
Hollander, D.A.M.J. (Jeroen Bosch Ziekenhuis) ;
Büttner, S. (Klinikum Aschaffenburg-Alzenau) ;
de Vries, A.P.J. (Leiden University Medical Center) ;
Meziyerh, S. (Leiden University Medical Center) ;
van der Helm, D. (Leiden University Medical Center) ;
Mallat, M. (Leiden University Medical Center) ;
Bouwsma, H. (Leiden University Medical Center) ;
Sridharan, S. (Lister Hospital) ;
Petruliene, K. (Lithuanian University of Health Sciences) ;
Maloney, S.R. (Luzerner Kantonsspital) ;
Verberk, I. (Maasstad Ziekenhuis) ;
van der Sande, F.M. (Maastricht University Medical Center) ;
Christiaans, M.H.L. (Maastricht University Medical Center) ;
Hemmelder, M.H. (Maastricht University Medical Center) ;
MohanKumar, N. (Manipal Hospital) ;
Di Luca, M. (Marche Nord Hospital) ;
Tuğlular, S.Z. (Marmara University School of Medicine) ;
Kramer, A.B. (Martini Ziekenhuis) ;
Beerenhout, C. (Maxima Medisch Centrum) ;
Luik, P.T. (Meander Medisch Centrum) ;
Kerschbaum, J. (Medical University Innsbruck) ;
Tiefenthaler, M. (Medical University Innsbruck) ;
Watschinger, B. (Medical University of Vienna) ;
Stepanov, V.A. (Moscow Regional Research and Clinical Institute) ;
Zulkarnaev, A.B. (Moscow Regional Research and Clinical Institute) ;
Turkmen, K. (Necmettin Erbakan University Meram School of Medicine) ;
Gandolfini, I. (University of Parma) ;
Maggiore, U. (University of Parma) ;
Fliedner, A. (Nierenzentrum Reutlingen-Tübingen) ;
Åsberg, A. (Oslo University Hospital-Rikshospitalet) ;
Mjoen, G. (Oslo University Hospital-Rikshospitalet) ;
Miyasato, H. (Okinawa Chubu Hospital) ;
de Fijter, C.W.H. (OLVG) ;
Mongera, N. (Ospedale S. Maurizio Bolzano) ;
Pini, S. (University Hospital of Padova (Pàdua, Itàlia)) ;
de Biase, C. (Radboud University Medical Center) ;
Kerckhoffs, A. (Radboud University Medical Center) ;
van de Logt, A.E. (Radboud University Medical Center) ;
Maas, R. (Radboud University Medical Center) ;
Hilbrands, L.B. (Radboud University Medical Center) ;
Lebedeva, O. (Regional Clinical Hospital) ;
Lopez, V. (Hospital Regional Universitario de Málaga) ;
Reichert, L.J.M. (Rijnstate Hospital) ;
Verhave, J. (Rijnstate Hospital) ;
Titov, D. (RUDN University) ;
Parshina, E.V. (Saint-Petersburg State University Hospital) ;
Zanoli, L. (University of Catania) ;
Marcantoni, C. (University of Catania) ;
van Kempen, G. (Saxenburgh Medisch Centrum) ;
van Gils-Verrij, L.E.A. (Sint Antonius Ziekenhuis) ;
Harty, J.C. (Southern Health and Social Care Trust) ;
Meurs, M. (Spaarne Gasthuis) ;
Myslak, M. (SPWSZ Hospital) ;
Battaglia, Y. (St. Anna University Hospital) ;
Lentini, P. (St. Bassiano Hospital) ;
den Deurwaarder, E. (Streekziekenhuis Koningin Beatrix) ;
Stendahl, M. (Swedish Renal Registry) ;
Rahimzadeh, H. (Tehran University of Medical Sciences) ;
Rychlik, I. (Charles University) ;
Cabezas-Reina, C.J. (Toledo University Hospital) ;
Roca, A.M. (Toledo University Hospital) ;
Nauta, F. (Treant/Scheper Ziekenhuis) ;
Sahin, İ. (Turgut Ozal Medical Center) ;
Goffin, E. (Université Catholique de Louvain) ;
Kanaan, N. (Université Catholique de Louvain) ;
Labriola, L. (Université Catholique de Louvain) ;
Devresse, A. (Université Catholique de Louvain) ;
Diaz-Mareque, A. (University Clinical Hospital of Santiago de Compostela) ;
Coca, Armando (Hospital Clínico Universitario de Valladolid) ;
de Arriba, G. (Universitary Hospital of Guadalajara) ;
Meijers, B.K.I. (University Hospitals Leuven (Bèlgica)) ;
Naesens, M. (University Hospitals Leuven (Bèlgica)) ;
Kuypers, D. (University Hospitals Leuven (Bèlgica)) ;
Desschans, B. (University Hospitals Leuven (Bèlgica)) ;
Tonnerlier, A. (University Hospital Brussels) ;
Wissing, K.M. (University Hospital Brussels) ;
Dedinska, I. (University Hospital Martin and Jessenius Faculty of Medicine Comenius University) ;
Pessolano, G. (University Hospital Medical Center Verona) ;
Malik, S. (University Hospitals of Coventry and Warwickshire NHS Trust) ;
Dounousi, E. (University Hospital of Ioannina) ;
Papachristou, E. (University Hospital of Patras) ;
Berger, S.P. (University Medical Center Groningen) ;
Sanders, J.S.F. (University Medical Center Groningen) ;
Franssen, C.F.M. (University Medical Center Groningen) ;
Özyilmaz, A. (University Medical Center Groningen) ;
Ponikvar, J.B. (University Medical Center Ljubljana) ;
Pernat, A.M. (University Medical Center Ljubljana) ;
Kovac, D. (University Medical Center Ljubljana) ;
Arnol, M. (University Medical Center Ljubljana) ;
Ekart, R. (University Medical Centre Maribor) ;
Abrahams, A.C. (University Medical Center Utrecht) ;
Molenaar, F.M. (University Medical Center Utrecht) ;
van Zuilen, A.D. (University Medical Center Utrecht) ;
Meijvis, S.C.A. (University Medical Center Utrecht) ;
Dolmans, H. (University Medical Center Utrecht) ;
Tantisattamo, E. (University of California Irvine School of Medicine) ;
Esposito, P. (University of Genoa) ;
Krzesinski, J.M. (University of Liège) ;
Barahira, J.D. (University of Liège) ;
Gallieni, M. (University of Milan) ;
Martin-Moreno, P.L. (Clínica Universidad de Navarra) ;
Guglielmetti, G. (University of Piemonte Orientale) ;
Guzzo, G. (Valais Hospital. Sion & Lausanne University Hospital) ;
Toapanta, Néstor (Hospital Universitari Vall d'Hebron) ;
Soler, Maria Jose (Hospital Universitari Vall d'Hebron) ;
Luik, A.J. (VieCuri Medical Centre) ;
van Kuijk, W.H.M. (VieCuri Medical Centre) ;
Stikkelbroeck, L.W.H. (VieCuri Medical Centre) ;
Hermans, M.M.H. (VieCuri Medical Centre) ;
Rimsevicius, L. (Vilnius University) ;
Righetti, M. (Vimercate Hospital) ;
Islam, M. (Zonguldak Ataturk State Hospital) ;
Universitat Autònoma de Barcelona
In the general population with COVID-19, the male sex is an established risk factor for mortality, in part due to a more robust immune response to COVID-19 in women. Because patients on kidney function replacement therapy (KFRT) have an impaired immune response, especially kidney transplant recipients due to their use of immunosuppressants, we examined whether the male sex is still a risk factor for mortality among patients on KFRT with COVID-19. [...]
2022 -  10.1038/s41598-022-22657-4
Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 17978
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15 p, 1.9 MB |
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
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Olinger, Eric (Newcastle University) ;
Hofmann, Patrick (Hospital Uster) ;
Kidd, Kendrah (Charles University) ;
Dufour, Inès (Division of Nephrology. Cliniques Universitaires Saint-Luc) ;
Belge, Hendrica (Institute of Pathology and Genetics) ;
Schaeffer, Céline (San Raffaele Scientific Institute) ;
Kipp, Anne (University of Zurich) ;
Bonny, Olivier (Lausanne University Hospital) ;
Deltas, Constantinos (University of Cyprus) ;
Demoulin, Nathalie (Université catholique de Louvain) ;
Fehr, Thomas (Cantonal Hospital Graubuenden) ;
Fuster, Daniel G. (Inselspital Bern University Hospital) ;
Gale, Daniel (University College of London) ;
Goffin, Eric (Université catholique de Louvain) ;
Hodaňová, Kateřina (Charles University) ;
Huynh-Do, Uyen (Inselspital Bern University Hospital) ;
Kistler, Andreas (Cantonal Hospital Frauenfeld) ;
Morelle, Johann (Université catholique de Louvain) ;
Papagregoriou, Gregory (University of Cyprus) ;
Pirson, Yves (Cliniques Universitaires Saint-Luc) ;
Sandford, Richard (Cambridge Biomedical Campus) ;
Sayer, John (Newcastle University) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Venzin, Christina (Hospital Davos) ;
Venzin, Reto (Cantonal Hospital Graubuenden) ;
Vogt, Bruno (Inselspital Bern University Hospital) ;
Živná, Martina (Charles University) ;
Greka, Anna (Massachusetts Institute of Technology) ;
Dahan, Karin (Institute of Pathology and Genetics) ;
Rampoldi, Luca (San Raffaele Scientific Institute) ;
Kmoch, Stanislav (Charles University) ;
Bleyer, Anthony (Charles University) ;
Devuyst, Olivier (Cliniques Universitaires Saint-Luc) ;
Universitat Autònoma de Barcelona
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. [...]
2020 - 10.1016/j.kint.2020.04.038
Kidney International, Vol. 98 Núm. 3 (september 2020) , p. 717-731
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Recovery of dialysis patients with COVID-19 : health outcomes 3 months after diagnosis in ERACODA
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Hemmelder, March H. (Department of Internal Medicine. Division of Nephrology. Maastricht University Medical Center. CARIM School for Cardiovascular Disease. University of Maastricht) ;
Noordzij, M. (Department of Internal Medicine. University Medical Center Groningen) ;
Vart, P. (Department of Internal Medicine. University Medical Center Groningen) ;
Hilbrands, Luuk B (Department of Nephrology. Radboud University Medical Center) ;
Jager, K.J. (ERA Registry. Department of Medical Informatics. Amsterdam University Medical Center. University of Amsterdam. Amsterdam Public Health Research Institute) ;
Abrahams, A.C. (Department of Nephrology and Hypertension. University Medical Center Utrecht) ;
Arroyo, David (Hospital General Universitario Gregorio Marañón) ;
Battaglia, Y. (Department of Specialized Medicine. Division of Nephrology and Dialysis. St. Anna University Hospital) ;
Ekart, R. (Department of Dialysis. Clinic for Internal Medicine. University Medical Center Maribor) ;
Mallamaci, F. (Nephrology. Dialysis and Renal Transplantation Unit. Grande Ospedale Metropolitano di Reggio Cal) ;
Malloney, S.R. (Luzerner Kantonsspital) ;
Oliveira, João (Centrodial (Outpatient Dialysis Center)) ;
Rydzewski, A. (Department of Internal Medicine. Nephrology and Transplantation Medicine. Centre of Postgraduate Medical Education. Central Clinical Hospital. The Ministry of Internal Affairs) ;
Sridharan, S. (Department of nephrology. East and North Hertfordshire NHS Trust. Lister Hospital) ;
Vogt, L. (Department of Internal Medicine. Section of Nephrology. Amsterdam University Medical Centers. Amsterdam Cardiovascular Sciences. University of Amsterdam) ;
Duivenvoorden, R. (Department of Nephrology. Radboud University Medical Center) ;
Gansevoort, R.T. (Department of Internal Medicine. University Medical Center Groningen) ;
Franssen, C.F.M. (Department of Internal Medicine. University Medical Center Groningen) ;
van der Net, J.B. (Albert Schweitzer Hospital) ;
Essig, M. (Ambroise Pare Hospital. APHP Paris-Saclay University) ;
du Buf-Vereijken, P.W.G. (Amphia Hospital) ;
van Ginneken, B. (Amphia Hospital) ;
Maas, N. (Amphia Hospital) ;
van Jaarsveld, B.C. (Amsterdam UMC) ;
Bemelman, Frederike (Amsterdam UMC) ;
Klingenberg-Salahova, F. (Amsterdam UMC) ;
Heenan-Vos, F. (Amsterdam UMC) ;
Vervloet, Marc G. (Amsterdam UMC. University Medical Center) ;
Nurmohamed, A. (Amsterdam UMC) ;
Abramowicz, D. (University Hospital Antwerp (Bèlgica)) ;
Verhofstede, S. (University Hospital Antwerp (Bèlgica)) ;
Maoujoud, O. (Avicennes Military Hospital. Faculty of Medicine. Cadi Ayyad University) ;
Malfait, T. (AZ Delta) ;
Fialova, J. (B. Braun Avitum) ;
Melilli, Edoardo (Hospital Universitari de Bellvitge) ;
Favà, Alexandre (Hospital Universitari de Bellvitge) ;
Cruzado, Josep María (Hospital Universitari de Bellvitge) ;
Montero, Nuria (Hospital Universitari de Bellvitge) ;
Lips, J. (Bernhoven Hospital) ;
Krepel, H. (Bravis Hospital) ;
Adilovic, H. (Cantonal Hospital Zenica) ;
Hengst, M. (Catharina Hospital) ;
Konings, C.J.A.M. (Catharina Hospital) ;
Braconnier, P. (Centre Hospitalier du Nord) ;
Weis, D. (Centre Hospitalier du Nord) ;
Gellert, R. (Centre of Postgraduate Medical Education) ;
Alferes, D.G. (Centro Hospitalar Vila Nova de Gaia/Espinho) ;
Radulescu, D. (Carol Davila' University of Medicine and Pharmacy) ;
Zakharova, E.V. (City Hospital n.a. S.P. Botkin) ;
Ambuehl, P.M. (City Hospital Zuürich) ;
Guidotti, R. (City Hospital Zuürich) ;
Walker, A. (City Hospital Zuürich) ;
Lepeytre, F. (Claude Galien Hospital Ramsay santé) ;
Rabaté, C. (Claude Galien Hospital Ramsay santé) ;
Rostoker, G. (Claude Galien Hospital Ramsay santé) ;
Marques, S. (Clínica de Hemodiálise de Felgueiras) ;
Azasevac, T. (Clinical Centre of Vojvodina) ;
Majstorovic, G.S. (Clinical Centre of Vojvodina) ;
Katicic, D. (Croatian Society of Nephrology. Dialysis and Transplantation) ;
Dam, M.t. (CWZ Nijmegen) ;
Krüger, T. (DaVita Geilenkirchen) ;
Brzosko, S. (DaVita) ;
Liakopoulos, V. (Department of Internal Medicine. Medical School. Aristotle University of Thessaloniki) ;
Zanen, A.L. (Deventer Ziekenhuis) ;
Logtenberg, S.J.J. (Dianet Dialysis Center) ;
Fricke, L. (Dialysis Center Bochum) ;
Kuryata, O. (Dnipro State Medical University) ;
Slebe, J.J.P. (Elyse Klinieken voor Nierzorg) ;
Abd ElHafeez, S. (Epidemiology Department. High Institute of Public Health. Alexandria University) ;
Kemlin, D. (Erasme Hospital) ;
van de Wetering, J. (Erasmus MC Transplant Institute. Department of Internal Medicine. University Medical Center Rotterdam) ;
Reinders, M.E.J. (Erasmus MC Transplant Institute. Department of Internal Medicine. University Medical Center Rotterdam) ;
Hesselink, D.A. (Erasmus MC Transplant Institute. Department of Internal Medicine. University Medical Center Rotterdam) ;
van Gestel, J.K. (Erasmus MC Transplant Institute. Department of Internal Medicine. University Medical Center Rotterdam) ;
Eiselt, J. (Faculty of Medicine in Pilsen. Charles University) ;
Kielberger, L. (Faculty of Medicine in Pilsen. Charles University) ;
El-Wakil, H.S. (Faculty of Medicine. Alexandria University) ;
Verhoeven, M.A.M. (Franciscus Gasthuis and Vlietland) ;
Logan, I. (Freeman Hospital) ;
Canal Girol, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Facundo, Carme (Institut d'Investigació Biomèdica Sant Pau) ;
Ramos, Ana M. (Hospital Universitario Fundación Jiménez Díaz) ;
Debska-Slizien, A. (Gdansk Medical University) ;
Veldhuizen, N.M.H. (Gelre Hospital) ;
Tigka, E. (General Hospital of Athens 'G. Gennimatas') ;
Polyzou Konsta, M.A. (General Hospital of Serres) ;
Panagoutsos, S. (General University Hospital of Alexandroupolis) ;
Postorino, A. (Grande Ospedale Metropolitano and CNR) ;
Cambareri, F. (Grande Ospedale Metropolitano and CNR) ;
Matceac, I. (Grigore T Popa University of Medicine and Pharmacy) ;
Nistor, I. (Grigore T Popa University of Medicine and Pharmacy) ;
Covic, A. (Grigore T Popa University of Medicine and Pharmacy) ;
Groeneveld, J.H.M. (Haaglanden Medisch Centrum) ;
Jousma, J. (Haaglanden Medisch Centrum) ;
Diekmann, Fritz (Hospital Clínic i Provincial de Barcelona) ;
Oppenheimer, Federico (Hospital Clínic i Provincial de Barcelona) ;
Blasco, Miquel (Hospital Clínic i Provincial de Barcelona) ;
Pereira, T.A. (Hospital Curry Cabral. Central Lisbon University Hospital Center) ;
dos Santos Junior, A.C.S. (Hospital das Clinicas UFMG) ;
Arias Cabrales, Carlos E (Hospital del Mar (Barcelona, Catalunya)) ;
Crespo, Marta (Hospital del Mar (Barcelona, Catalunya)) ;
Llinàs-Mallol, Laura (Hospital del Mar (Barcelona, Catalunya)) ;
Buxeda, Anna (Hospital del Mar (Barcelona, Catalunya)) ;
Tàrrega, Carla Burballa (Hospital del Mar (Barcelona, Catalunya)) ;
Redondo-Pachón, Dolores (Hospital del Mar (Barcelona, Catalunya)) ;
Arenas Jimenez, Maria Dolores (Hospital del Mar (Barcelona, Catalunya)) ;
Mendoza-Valderrey, Alberto (Hospital del Mar (Barcelona, Catalunya)) ;
Martins, A.C. (Hospital de Santa Cruz. Centro Hospitalar de Lisboa Ocidental) ;
Mateus, C. (Hospital de Santa Cruz. Centro Hospitalar de Lisboa Ocidental) ;
Alvila, G. (Hospital de Santa Cruz. Centro Hospitalar de Lisboa Ocidental) ;
Laranjinha, I. (Hospital de Santa Cruz. Centro Hospitalar de Lisboa Ocidental) ;
Hofstra, J.M. (Hospital Gelderse Vallei) ;
Siezenga, M.A. (Hospital Gelderse Vallei) ;
Franco, Antonio (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Castellano, Sandra (Hospital General Universitario Gregorio Marañón) ;
Rodríguez-Ferrero, Maria Luisa (Hospital General Universitario Gregorio Marañón) ;
Manzanos, S.B. (Hospital Obispo Polanco) ;
Haridian Sosa Barrios, R. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Lemahieu, W. (Imelda Hospital) ;
Bartelet, K. (Isala) ;
Dirim, A.B. (Istanbul Faculty of Medicine. Istanbul University) ;
Demir, E. (Istanbul Faculty of Medicine. Istanbul University) ;
Sever, M.S. (Istanbul Faculty of Medicine. Istanbul University) ;
Turkmen, A. (Istanbul Faculty of Medicine. Istanbul University) ;
Şafak, S. (Istanbul Faculty of Medicine. Istanbul University) ;
Hollander, D.A.M.J. (Jeroen Bosch Ziekenhuis) ;
Kerckhoffs, A. (Jeroen Bosch Ziekenhuis) ;
Büttner, S. (Klinikum Aschaffenburg-Alzenau) ;
de Vries, A.P.J. (Leiden University Medical Center) ;
Meziyerh, S. (Leiden University Medical Center) ;
van der Helm, D. (Leiden University Medical Center) ;
Mallat, M. (Leiden University Medical Center) ;
Bouwsma, H. (Leiden University Medical Center) ;
Petruliene, K. (Lithuanian University of Health Sciences) ;
Verberk, I. (Maasstad Ziekenhuis) ;
van der Sande, F.M. (Maastricht University Medical Center) ;
Christiaans, M.H.L. (Maastricht University Medical Center) ;
MohanKumar, N. (Manipal Hospital) ;
Luca, M.D. (Marche Nord Hospital) ;
Tuglular, S.Z. (Marmara University School of Medicine) ;
Kramer, A. (Martini Ziekenhuis) ;
Beerenhout, C. (Maxima Medisch Centrum) ;
Luik, P.T. (Meander Medisch Centrum) ;
Kerschbaum, J. (Austrian Dialysis and Transplant Registry) ;
Tiefenthaler, M. (Medical University Innsbruck) ;
Watschinger, B. (Medical University of Vienna) ;
Adema, A.Y. (Medisch Centrum Leeuwarden) ;
Stepanov, V.A. (Moscow Regional Research and Clinical Institute) ;
Zulkarnaev, A.B. (Moscow Regional Research and Clinical Institute) ;
Turkmen, K. (Necmettin Erbakan University Meram School of Medicine) ;
Gandolfini, I. (Nephrology Unit. Department of Medicine and Surgery. University of Parma) ;
Maggiore, U. (Nephrology Unit. Department of Medicine and Surgery. University of Parma) ;
Fliedner, A. (Nierenzentrum Reutlingen-Tübingen) ;
Åsberg, A. (Norwegian Renal Registry. Oslo University Hospital Rikshospitalet) ;
Mjoen, G. (Norwegian Renal Registry. Oslo University Hospital Rikshospitalet) ;
Miyasato, H. (Okinawa Chubu Hospital) ;
de Fijter, C.W.H. (OLVG) ;
Mongera, N. (Ospedale S. Maurizio Bolzano) ;
Pini, S. (University Hospital of Padova (Pàdua, Itàlia)) ;
de Biase, C. (Radboud University Medical Center) ;
van de Logt, A.E. (Radboud University Medical Center) ;
Maas, R. (Radboud University Medical Center) ;
Lebedeva, O. (Regional Clinical Hospital) ;
Lopez, Veronica (Hospital Regional Universitario de Málaga) ;
Reichert, L.J.M. (Rijnstate Hospital) ;
Verhave, J. (Rijnstate Hospital) ;
Titov, D. (RUDN University) ;
Parshina, E.V. (Saint Petersburg State University Hospital) ;
Zanoli, L. (San Marco Hospital. University of Catania) ;
Marcantoni, C. (San Marco Hospital. University of Catania) ;
van Kempen, G. (Saxenburgh Medisch Centrum) ;
van Gils-Verrij, L.E.A. (Sint Antonius Ziekenhuis) ;
Harty, J.C. (Southern Health and Social Care Trust) ;
Meurs, M. (Spaarne Gasthuis) ;
Myslak, M. (SPWSZ Hospital) ;
Lentini, P. (St. Bassiano Hospital) ;
den Deurwaarder, E. (Streekziekenhuis Koningin Beatrix) ;
Stendahl, M. (Swedish Renal Registry) ;
Rahimzadeh, H. (Tehran University of Medical Sciences) ;
Schouten, M. (Tergooi) ;
Rychlik, I. (Third Faculty of Medicine. Charles University. Faculty Hospital Kralovske Vinohrady) ;
Cabezas-Reina, Carlos Jesús (Hospital General Universitario de Toledo) ;
Roca, Ana Maria (Hospital General Universitario de Toledo) ;
Nauta, F. (Scheper Ziekenhuis) ;
Sahin, I. (Turgut Ozal Medical Center) ;
Goffin, Eric (Université Catholique de Louvain. Cliniques universitaires St Luc) ;
Kanaan, N. (Université Catholique de Louvain. Cliniques universitaires St Luc) ;
Labriola, L. (Université Catholique de Louvain. Cliniques universitaires St Luc) ;
Devresse, A. (Université Catholique de Louvain. Cliniques universitaires St Luc) ;
Diaz-Mareque, Anabel (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Coca, Armando (Hospital Clínico Universitario de Valladolid) ;
de Arriba, Gabriel (Hospital Universitario de Guadalajara) ;
Meijers, B.K.I. (University Hospitals Leuven (Bèlgica)) ;
Naesens, M. (University Hospitals Leuven (Bèlgica)) ;
Kuypers, D. (University Hospitals Leuven (Bèlgica)) ;
Desschans, B. (University Hospitals Leuven (Bèlgica)) ;
Tonnerlier, A. (University Hospital Brussels) ;
Wissing, K.M. (University Hospital Brussels) ;
Dedinska, I. (University Hospital Martin. Jessenius Faculty of Medicine Comenius University) ;
Pessolano, G. (University Hospital Medical Center Verona) ;
Malik, S. (University Hospitals of Coventry and Warwickshire NHS Trust) ;
Dounousi, E. (University Hospital of Ioannina) ;
Papachristou, E. (University Hospital of Patras) ;
Berger, S.P. (University Medical Center Groningen) ;
Meijer, E. (University Medical Center Groningen) ;
Sanders, J.S.F. (University Medical Center Groningen) ;
Özyilmaz, A. (Dialysis Center Groningen) ;
Ponikvar, J.B. (University Medical Center Ljubljana) ;
Pernat, A.M. (University Medical Center Ljubljana) ;
Kovac, D. (University Medical Center Ljubljana) ;
Arnol, M. (University Medical Center Ljubljana) ;
Molenaar, F.M. (University Medical Center Utrecht) ;
van Zuilen, A.D. (University Medical Center Utrecht) ;
Meijvis, S.C.A. (University Medical Center Utrecht) ;
Dolmans, H. (University Medical Center Utrecht) ;
Tantisattamo, E. (University of California Irvine School of Medicine) ;
Esposito, P. (University of Genoa) ;
Krzesinski, J.M. (University of Liége) ;
Barahira, J.D. (University of Liége) ;
Gallieni, M. (University of Milan) ;
Martin-Moreno, Paloma Leticia (Clínica Universidad de Navarra) ;
Guglielmetti, G. (University of Piemonte Orientale) ;
Guzzo, G. (Lausanne University Hospital) ;
Toapanta, Nestor (Hospital Universitari Vall d'Hebron) ;
Soler, Maria José (Hospital Universitari Vall d'Hebron) ;
Luik, A.J. (VieCuri Medical Centre) ;
van Kuijk, W.H.M. (VieCuri Medical Centre) ;
Stikkelbroeck, L.W.H. (VieCuri Medical Centre) ;
Hermans, M.M.H. (VieCuri Medical Centre) ;
Rimsevicius, L. (Vilnius University) ;
Righetti, M. (Vimercate Hospital) ;
Islam, M. (Zonguldak Ataturk State Hospital) ;
Heitink-Ter Braak, N. (Zuyderland Medical Center)
Background. Coronavirus disease 2019 (COVID-19)-related short-term mortality is high in dialysis patients, but longer-term outcomes are largely unknown. We therefore assessed patient recovery in a large cohort of dialysis patients 3 months after their COVID-19 diagnosis. [...]
2022 - 10.1093/ndt/gfac008
Nephrology Dialysis Transplantation, Vol. 37 Núm. 6 (january 2022) , p. 1140-1151
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5.
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17 p, 1.5 MB |
A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA) : Rationale, Design, and Baseline Data
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Pagano, Gennaro (F Hoffmann-La Roche AG Research and Development Division) ;
Boess, Frank (Roche Pharma Research and Early Development) ;
Taylor, Kirsten I. (Faculty of Psychology. University of Basel) ;
Ricci, Benedicte (Roche Pharma Research and Early Development) ;
Mollenhauer, Brit ;
Poewe, Werner ;
Boulay, Anne ;
Anzures-Cabrera, Judith (Roche Products Ltd) ;
Vogt, Annamarie ;
Marchesi, Maddalena ;
Post, Anke ;
Nikolcheva, Tania ;
Kinney, Gene G. (Prothena Biosciences Inc. South San Francisco) ;
Zago, Wagner M. ;
Ness, Daniel K. ;
Svoboda, Hanno (F. Hoffmann-La Roche) ;
Britschgi, Markus ;
Ostrowitzki, Susanne ;
Simuni, Tanya ;
Marek, Kenneth (Institute for Neurodegenerative Disorders) ;
Koller, Martin ;
Sevigny, Jeff ;
Doody, Rachelle ;
Fontoura, Paulo ;
Umbricht, Daniel ;
Bonni, Azad ;
Altendorf, Claudia ;
Anandan, Chareyna ;
Andrews, Giulia ;
Ansquer, Solène ;
Arrouasse, Raphaele ;
Aslam, Sana ;
Azulay, Jean-Philippe ;
Baker, Jeanette ;
Balaguer Martinez, Ernest ;
Barbu, Shadi ;
Bardram, Kara ;
Bega, Danny ;
Bejr-kasem, Helena (Institut d'Investigació Biomèdica Sant Pau) ;
Benatru, Isabelle ;
Benchetrit, Eve ;
Bernhard, Felix ;
Besharat, Amir ;
Bette, Sagari ;
Bichon, Amelie ;
Billnitzer, Andrew ;
Blondeau, Sophie ;
Boraud, Thomas ;
Borngräber, Freiderike ;
Boyd, James ;
Brockmann, Kathrin ;
Brodsky, Matthew ;
Brown, Ethan ;
Bruecke, Christof ;
Calvas, Fabienne ;
Canelo, Monica ;
Carbone, Federico ;
Carroll, Claire ;
Casado Fernandez, Laura ;
Cassé-Perrot, Catherine ;
Castrioto, Anna ;
Catala, Helene ;
Chan, Justine ;
Cheriet, Samia ;
Ciabarra, Aanthony ;
Classen, Joseph ;
Coleman, Juliana ;
Coleman, Robert ;
Compta, Yaroslau ;
Corbillé, Anne-Gaëlle ;
Corvol, Jean-Christophe ;
Cosgaya, Marina ;
Dahodwala, Nabila ;
Damier, Philippe ;
David, Elodie ;
Davis, Thomas ;
Dean, Marissa ;
Debilly, Berengere ;
DeGiorgio, Janell ;
Deik, Andres ;
Delaby, Laure ;
Delfini, Marie-Helene ;
Derkinderen, Pascal ;
Derost, Philipp ;
de Toledo, María ;
Deuel, Lisa ;
Diaz-Hernandez, Ann Marie ;
Dietiker, Cameron ;
Dimenshteyn, Karina ;
Dotor, Julio ;
Durif, Franck ;
Ebentheuer, Jens ;
Eggert, Karla Maria ;
Eichau Madueño, Sara ;
Eickhoff, Claudia ;
Ellenbogen, Aaron ;
Ellmerer, Philipp ;
Esparragosa Vazquez, Inés ;
Eusebio, Alexandre ;
Ewert, Siobhan ;
Fang, John ;
Feigenbaum, Danielle ;
Fluchere, Frederique ;
Foubert-Samier, Alexandra ;
Fournier, Marie ;
Fradet, Anne ;
Fraix, Valerie ;
Frank, Samuel ;
Fries, Franca ;
Galitzky, Monique ;
Gallardo Pérez, Marisol ;
Moreno, Jose Manuel García ;
Gasca, Carmen ;
Gasser, Thomas ;
Gibbons, Joyce ;
Giordana, Caroline ;
González Martinez, Alicia ;
Goodman, Ira ;
Gorospe, Arantza ;
Goubeaud, Marie ;
Grabli, David ;
Graziella, Mangone ;
Grimaldi, Stephan ;
Gross, Jeffrey ;
Guimaraes-Costa, Raquel ;
Hartmann, Andreas ;
Hartmann, Christian ;
Hassell, Travis ;
Hauser, Robert ;
Hernandez, Antonio ;
Hernández-Vara, Jorge ;
Hoeglinger, Günter ;
Homedes, Christian ;
Horta, Andrea ;
Houeto, Jean-Luc ;
Huebl, Julius ;
Hui, Jennifer ;
Isaacson, Stuart ;
Jankovic, Joseph ;
Janzen, Annette ;
Jauregui, Junior ;
Jiao, Jocelyne ;
Martí Domenech, María José ;
Joseph, Xavier ;
Kadimi, Srinath ;
Kaminski, Pat ;
Kannenberg, Silja ;
Kassubek, Jan ;
Katz, Maya ;
Klos, Kevin ;
Klos, Shannon ;
Kobet, Christopher ;
Koebert, Jennifer ;
Krause, Patricia ;
Kuehn, Andrea ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Kumar, Rajeev ;
Kunz, Martin ;
Kurvits, Lille ;
Kwei, Kimberly ;
Laganiere, Simon ;
Laurens, Brice ;
Levin, Johannes ;
Levy, Oren ;
LeWitt, Peter ;
Cristóbal, Gurutz Linazasoro ;
Litvan, Irene ;
Lizarraga, Karlo ;
Longardner, Katherine ;
Lopez, Rocío ;
López Manzanares, Lydia ;
Lucas del Pozo, Sara ;
Luquín Pulido, María Rosario ;
Luthra, Nijee ;
Lyons, Kelly ;
Maass, Sylvia ;
Machetanz, Gerrit ;
Macías, Yolanda ;
Maltete, David ;
Manez Miro, Jorge Uriel ;
Mariani, Louise-Laure ;
Marin, Juan ;
Marini, Kathrin ;
Marques, Ana ;
Marti, Gloria ;
Martí Domenech, María José ;
Martinez, Saul ;
Meissner, Wassilios ;
Meoni, Sara ;
Mollenhauer, Brit ;
Martinez, Dunia Mon ;
Moon, Johnson ;
Moro, Elena ;
Morrison, Peter ;
Muehlberg, Christoph ;
Multani, Manpreet ;
Murphy, Christine ;
Nicholas, Anthony ;
Pahwa, Rajesh ;
Palasí Franco, Antoni ;
Pape, Heidi ;
Patel, Neepa ;
Patel, Prity ;
Peball, Marina ;
Peckham, Elizabeth ;
Peery, Terry ;
Perez, Rafael ;
Perez, Jesús ;
Petit, Alisa ;
Pinkhardt, Elmar ;
Poewe, Werner ;
Pomies, Elsa ;
Preterre, Cecile ;
Quinn, Joseph ;
Rascol, Olivier ;
Remy, Philippe ;
Richard, Irene ;
Roeben, Benjamin ;
Ruether, Emily ;
Rumpf, Jost-Julian ;
Russell, David ;
Salhi, Hayet ;
Samaniego-Toro, Daniela ;
Samier-Foubert, Alexandra ;
Sánchez, Antonio ;
Schmitt, Emmanuelle ;
Schnitzler, Alfons ;
Schorr, Oliver ;
Schwartzbard, Julie ;
Schweyer, Kerstin ;
Seppi, Klaus ;
Sergo, Victoria ;
Shill, Holly ;
Siderowf, Andrew ;
Simuni, Tanya ;
Spampinato, Umberto ;
Sriram, Ashok ;
Stover, Natividad ;
Tanner, Caroline ;
Tarakad, Arjun ;
Taylor, Carolyn ;
Thalamus, Claire ;
Toothaker, Thomas ;
Van Blercom, Nadege ;
Vanegas-Arrogave, Nora ;
Vela, Lydia ;
Vergnet, Sylvian ;
Vidal, Tiphaine ;
Vöglein, Jonathan ;
Walsh, Ryan ;
Waters, Cheryl ;
Wegscheider, Mirko ;
Weidinger, Endy ;
Weill, Caroline ;
Wenzel, Gregor ;
Witjas, Tatiana ;
Wurster, Isabel ;
Wright, Brenton ;
Zimmermann, Milan ;
Zuzuarregui, Rafael ;
Abt, Markus ;
Bamdadian, Atieh ;
Barata, Teresa ;
Barbet, Nicholas ;
Belli, Sara ;
Boess, Frank ;
Bonni, Azad ;
Borroni, Edilio ;
Boulay, Anne ;
Britschgi, Markus ;
Chague, Jerome ;
Cosson, Valerie ;
Czech, Christian ;
Deptula, Dennis ;
Diack, Cheikh ;
Doody, Rachelle ;
Dukart, Juergen ;
D'Urso, Giulia ;
Dziadek, Sebastian (F. Hoffmann-La Roche) ;
Eddleston, Hannah ;
Edgar, Chris ;
Essioux, Laurent ;
Farell, Morgan ;
Finch, Rebecca (Roche Products Ltd) ;
Fontoura, Paulo ;
Gruenbauer, Waltraud ;
Hahn, Andreas ;
Holiga, Stefan (F. Hoffmann-La Roche) ;
Honer, Michael ;
Jadidi, Shirin ;
Johnson-Wood, Kelly ;
Keller, Markus ;
Kilchenmann, Timothy ;
Koller, Martin ;
Kremer, Thomas ;
Kustermann, Thomas (F. Hoffmann-La Roche) ;
Landsdall, Claire ;
Lindemann, Michael (F. Hoffmann-La Roche) ;
Lipsmeier, Florian ;
Luzy, Cecile ;
Manchester, Marianne ;
Marchesi, Maddalena ;
Martenyi, Ferenc ;
Martin-Facklam, Meret ;
Mironova, Katerina ;
Monnet, Annabelle (F. Hoffmann-La Roche) ;
Moore, Emma ;
Ness, Daniel K. ;
Niggli, Markus ;
Nikolcheva, Tania (F. Hoffmann-La Roche) ;
Ostrowitzki, Susanne ;
Passmard, Benedicte ;
Poirier, Agnes ;
Post, Anke ;
Prasad, Megana ;
Pross, Nathalie (F. Hoffmann-La Roche) ;
Quock, Tiffany ;
Rose, Ellen ;
Sarry, Christoph ;
Schubert, Christine ;
Selkoe, Dennis ;
Sevigny, Jeff ;
Sink, Kaycee ;
Staunton, Hannah ;
Steven, Tim ;
Strasak, Alexander ;
Svoboda, Hanno ;
Tripuraneni, Radhika ;
Trundell, Dylan ;
Umbricht, Daniel ;
Verselis, Lynne ;
Vogt, Annamarie ;
Volkova-Volkmar, Ekaterina ;
Weber, Cornelia ;
Weber, Silke ;
Zago, Wagner (Prothena Biosciences Inc. (San Francisco))
Background: Currently available treatments for Parkinson's disease (PD) do not slow clinical progression nor target alpha-synuclein, a key protein associated with the disease. Objective: The study objective was to evaluate the efficacy and safety of prasinezumab, a humanized monoclonal antibody that binds aggregated alpha-synuclein, in individuals with early PD. [...]
2021 - 10.3389/fneur.2021.705407
Frontiers in neurology, Vol. 12 (january 2021) , p. 705407
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6.
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13 p, 1014.8 KB |
Global Variations in the Mineral Content of Bottled Still and Sparkling Water and a Description of the Possible Impact on Nephrological and Urological Diseases
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Stoots, Simone J. M. (University of Amsterdam, Amsterdam, The Netherlands) ;
Kamphuis, Guido M. (University of Amsterdam, Amsterdam, The Netherlands) ;
Geraghty, Rob (Freeman Hospital, Newcastle, UK) ;
Vogt, Liffert (University of Amsterdam, Amsterdam, The Netherlands) ;
Henderickx, Michaël M. E. L. (University of Amsterdam, Amsterdam, The Netherlands) ;
Hameed, B. M. Zeeshan (Kasturba Medical College and Hospital, Manipal, Karnataka, India) ;
Ibrahim, Sufyan (Kasturba Medical College and Hospital, Manipal, Karnataka, India) ;
Pietropaolo, Amelia (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ;
Jamnadass, Enakshee (Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia) ;
Aljumaiah, Sahar M. (Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia) ;
Hamri, Saeed B. (Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia) ;
Ventimiglia, Eugenio (Urological Research Institute, San Raffaele, Milan, Italy) ;
Traxer, Olivier (Sorbonne University, Paris, France) ;
Gauhar, Vineet (Ng Teng Fong General Hospital, Singapore, Singapore) ;
Keller, Etienne Xavier (University Hospital Zurich (Suïssa)) ;
De Coninck, Vincent (AZ Klina, Brasschaat, Belgium) ;
Durutović, Otas (University of Belgrade, Belgrade, Serbia) ;
Gadzhiev, Nariman Kazihanovich (Saint-Petersburg State University Hospital, Saint Petersburg, Russia) ;
Dragos, Laurian B. (Addenbrookes Hospital (Cambridge, Regne Unit)) ;
Sener, Tarik Emre (Marmara University Hospital, Istanbul, Turkey) ;
Rukin, Nick (Redcliff Hospital, Brisbane, Australia) ;
Talso, Michele (Luigi Sacco University Hospital, Milan, Italy) ;
Kallidonis, Panagiotis (University of Patras, Patras, Greece) ;
Emiliani, Esteban (Institut d'Investigació Biomèdica Sant Pau) ;
Bres-Niewada, Ewa (Medical University of Warsaw, Warsaw, Poland) ;
Scotland, Kymora B. (University of California Los Angeles (UCLA), USA) ;
Bhojani, Naeem (Department of Urology, University of Montreal, Montreal, Canada) ;
Vagionis, Athanasios (Department of Urology, University of Patras, Patras, Greece) ;
Piccirilli, Angela (Institut d'Investigació Biomèdica Sant Pau) ;
Somani, Bhaskar K. (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ;
Universitat Autònoma de Barcelona
Kidney stone disease (KSD) is a complex disease. Besides the high risk of recurrence, its association with systemic disorders contributes to the burden of disease. Sufficient water intake is crucial for prevention of KSD, however, the mineral content of water might influence stone formation, bone health and cardiovascular (CVD) risk. [...]
2021 - 10.3390/jcm10132807
Journal of clinical medicine, Vol. 10 (june 2021)
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7.
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18 p, 2.6 MB |
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
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Xie, Jingyuan (Shanghai Jiao Tong University School of Medicine) ;
Liu, Lili (Columbia University) ;
Mladkova, Nikol (Columbia University) ;
Li, Yifu (Columbia University) ;
Ren, Hong (Shanghai Jiao Tong University School of Medicine) ;
Wang, Weiming (Shanghai Jiao Tong University School of Medicine) ;
Cui, Zhao (Key Laboratory of Renal Disease, Ministry of Health of China) ;
Lin, Li (Shanghai Jiao Tong University School of Medicine) ;
Hu, Xiaofan (Shanghai Jiao Tong University School of Medicine) ;
Yu, Xialian (Shanghai Jiao Tong University School of Medicine) ;
Xu, Jing (Shanghai Jiao Tong University School of Medicine) ;
Liu, Gang (Key Laboratory of CKD Prevention and Treatment, Ministry of Education of China) ;
Caliskan, Yasar (Istanbul University) ;
Sidore, Carlo (Istituto di Ricerca Genetica e Biomedica) ;
Balderes, Olivia (Columbia University) ;
Rosen, Raphael J. (Columbia University) ;
Bodria, Monica (University of Parma) ;
Zanoni, Francesca (Nephrology Dialysis and Kidney Transplant Unit) ;
Zhang, Jun Y. (Columbia University) ;
Krithivasan, Priya (Columbia University) ;
Mehl, Karla (Columbia University) ;
Marasa, Maddalena (Columbia University) ;
Khan, Atlas (Columbia University) ;
Ozay, Fatih (Columbia University) ;
Canetta, Pietro A. (Columbia University) ;
Bomback, Andrew S. (Columbia University) ;
Appel, Gerald B. (Columbia University) ;
Sanna-Cherchi, Simone (Columbia University) ;
Sampson, Matthew G. (University of Michigan School of Medicine) ;
Mariani, Laura H. (Arbor Research Collaborative for Health) ;
Perkowska-Ptasinska, Agnieszka (Medical University of Warsaw) ;
Durlik, Magdalena (Medical University of Warsaw) ;
Mucha, Krzysztof (Institute of Biochemistry and Biophysics) ;
Moszczuk, Barbara (Medical University of Warsaw) ;
Foroncewicz, Bartosz (Medical University of Warsaw) ;
Pączek, Leszek (Institute of Biochemistry and Biophysics) ;
Habura, Ireneusz (Department of Nephrology) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Mani, Laila-Yasmin (Bern University Hospital) ;
Vogt, Bruno (Bern University Hospital) ;
Ozturk, Savas (Nephrology Clinic) ;
Yildiz, Abdülmecit (Uludag University) ;
Arikan, Hakki (Marmara University School of Medicine) ;
Koc, Mehmet (Marmara University) ;
Basturk, Taner (Sisli Hamidiye Etfal Training and Research Hospital) ;
Karahan, Gonca (Istanbul University) ;
Akgul, Sebahat Usta (Istanbul University) ;
Sever, Mehmet Sukru (Istanbul University) ;
Zhang, Dan (Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine) ;
Santoro, Domenico (University of Messina) ;
Bonomini, Mario (University of Chieti-Pescara) ;
Londrino, Francesco (S. Andrea Hospital) ;
Gesualdo, Loreto (University of Bari) ;
Reiterova, Jana (Charles University) ;
Tesar, Vladimir (Charles University) ;
Izzi, Claudia (ASST Spedali Civili di Brescia) ;
Savoldi, Silvana (Unit of Nephrology and Dialysis ASL TO4, Cirié, Turin, Italy) ;
Spotti, Donatella (San Raffaele Hospital) ;
Marcantoni, Carmelita (Cannizzaro Hospital) ;
Messa, Piergiorgio (Università degli studi di Milano) ;
Galliani, Marco (Sandro Pertini Hospital) ;
Roccatello, Dario (University of Turin) ;
Granata, Simona (University of Verona) ;
Zaza, Gianluigi (University of Verona) ;
Lugani, Francesca (IRCCS Giannina Gaslini, Genoa, Italy) ;
Ghiggeri, GianMarco (IRCCS Giannina Gaslini, Genoa, Italy) ;
Pisani, Isabella (University of Parma) ;
Allegri, Landino (University of Parma) ;
Sprangers, Ben (University Hospitals Leuven (Bèlgica)) ;
Park, Jin-Ho (Seoul National University) ;
Cho, BeLong (Seoul National University College of Medicine) ;
Kim, Yon Su (Seoul National University College of Medicine) ;
Kim, Dong Ki (Seoul National University College of Medicine) ;
Suzuki, Hitoshi (Juntendo University) ;
Amoroso, Antonio (University of Torino) ;
Cattran, Daniel C. (University of Toronto) ;
Fervenza, Fernando C. (Mayo Clinic) ;
Pani, Antonello (G. Brotzu Hospital, Cagliari, Italy) ;
Hamilton, Patrick (Manchester University Hospitals NHS Trust) ;
Harris, Shelly (Manchester University Hospitals NHS Trust) ;
Gupta, Sanjana (University College London) ;
Cheshire, Chris (University College London) ;
Dufek, Stephanie (University College London) ;
Issler, Naomi (University College London) ;
Pepper, Ruth J. (University College London) ;
Connolly, John 1968- (University College London) ;
Powis, Stephen (University College London) ;
Bockenhauer, Detlef (University College London) ;
Stanescu, Horia C. (University College London) ;
Ashman, Neil (Royal London Hospital) ;
Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai) ;
Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ;
Wuttke, Matthias (University of Freiburg) ;
Eckardt, Kai-Uwe (Friedrich-Alexander-Universität) ;
Köttgen, Anna (University of Freiburg) ;
Hofstra, Julia M. (Radboud University Medical Center) ;
Coenen, Marieke J. H. (Radboud University Medical Centre) ;
Kiemeney, Lambertus A. (Radboud University Medical Center) ;
Akilesh, Shreeram (University of Washington) ;
Kretzler, Matthias (University of Michigan) ;
Beck, Lawrence H. (Boston University) ;
Stengel, Benedicte (University Paris-Sud) ;
Debiec, Hanna (Sorbonne Université) ;
Ronco, Pierre (Institut National de la Santé et de la Recherche Médicale) ;
Wetzels, Jack F. M. (Radboud University Medical Center) ;
Zoledziewska, Magdalena (Istituto di Ricerca Genetica e Biomedica) ;
Cucca, Francesco (Istituto di Ricerca Genetica e Biomedica) ;
Ionita-Laza, Iuliana (Columbia University) ;
Lee, Hajeong (Seoul National University College of Medicine) ;
Hoxha, Elion (University Medical Center Hamburg-Eppendorf) ;
Stahl, Rolf A. K. (University Medical Center Hamburg-Eppendorf) ;
Brenchley, Paul (University of Manchester) ;
Scolari, Francesco (University of Brescia) ;
Zhao, Ming-hui (Peking-Tsinghua Center for Life Sciences) ;
Gharavi, Ali (Columbia University) ;
Kleta, Robert (University College London) ;
Chen, Nan (Shanghai Jiao Tong University School of MedicinE) ;
Kiryluk, Krzysztof (Columbia University) ;
Universitat Autònoma de Barcelona
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. [...]
2020 - 10.1038/s41467-020-15383-w
Nature communications, Vol. 11 (march 2020)
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8 p, 4.7 MB |
Nitric oxide-dependent biodegradation of graphene oxide reduces inflammation in the gastrointestinal tract
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Peng, Guotao (Karolinska Institutet (Estocolm, Suècia). Institute of Environmental Medicine) ;
Montenegro, Marcelo F. (Karolinska Institutet (Estocolm, Suècia). Department of Physiology and Pharmacology) ;
Ntola, Chifundo N. M. (University of Manchester. National Graphene Institute) ;
Vranic, Sandra (University of Manchester. National Graphene Institute) ;
Kostarelos, Kostas (Institut Català de Nanociència i Nanotecnologia) ;
Vogt, Carmen (Kungl. Tekniska högskolan (Estocolm (Suècia)) ;
Toprak, Muhammet S. (Kungl. Tekniska högskolan (Estocolm (Suècia)) ;
Duan, Tianbo (Uppsala University. Department of Engineering Sciences) ;
Leifer, Klaus (Uppsala University. Department of Engineering Sciences) ;
Bräutigam, Lars (Karolinska Institutet (Estocolm, Suècia)) ;
Lundberg, Jon O. (Karolinska Institutet (Estocolm, Suècia). Department of Physiology and Pharmacology) ;
Fadeel, Bengt (Karolinska Institutet (Estocolm, Suècia). Institute of Environmental Medicine)
Understanding the biological fate of graphene-based materials such as graphene oxide (GO) is crucial to assess adverse effects following intentional or inadvertent exposure. Here we provide first evidence of biodegradation of GO in the gastrointestinal tract using zebrafish as a model. [...]
2020 - 10.1039/d0nr03675g
Nanoscale, Vol. 12, Issue 32 (August 2020) , p. 16730-16737
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17 p, 2.5 MB |
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
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Bastard, Paul (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Rosen, Lindsey B. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Zhang, Qian (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Michailidis, Eleftherios (The Rockefeller University. Laboratory of Virology and Infectious Disease) ;
Hoffmann, Hans-Heinrich (The Rockefeller University. Laboratory of Virology and Infectious Disease) ;
Zhang, Yu (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Dorgham, Karim (Sorbonne Université. Centre d'Immunologie et des Maladies Infectieuses) ;
Philippot, Quentin (University of Paris. Imagine Institute) ;
Rosain, Jérémie (University of Paris. Imagine Institute) ;
Béziat, Vivien (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Manry, Jeremy (University of Paris. Imagine Institute) ;
Shaw, Elana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Haljasmägi, Liis (University of Tartu. Institute of Biomedicine and Translational Medicine) ;
Peterson, Pärt (University of Tartu. Institute of Biomedicine and Translational Medicine) ;
Lorenzo, Lazaro (University of Paris. Imagine Institute) ;
Bizien, Lucy (University of Paris. Imagine Institute) ;
Trouillet-Assant, Sophie (Lyon University. International Center of Research in Infectiology) ;
Dobbs, Kerry (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Almeida de Jesus, Adriana (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Belot, Alexandre (Lyon Immunopathology Federation. Hospices Civils de Lyon) ;
Kallaste, Anne (Internal Medicine Clinic. Tartu University Hospital) ;
Catherinot, Emilie (Hôpital Foch) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital. Assistance Publique Hôpitaux de Paris) ;
Le Pen, Jérémie (The Rockefeller University. Laboratory of Virology and Infectious Disease) ;
Kerner, Gaspard (University of Paris. Imagine Institute) ;
Bigio, Benedetta (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Seeleuthner, Yoann (University of Paris. Imagine Institute) ;
Yang, Rui (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Bolze, Alexandre (Helix) ;
Spaan, András N. (University Medical Center Utrecht) ;
Delmonte, Ottavia M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Abers, Michael S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Aiuti, Alessandro (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ;
Lampasona, Vito (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Piemonti, Lorenzo (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Ciceri, Fabio (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Bilguvar, Kaya (Yale University School of Medicine. Department of Genetics) ;
Lifton, Richard P. (Rockefeller University. Laboratory of Human Genetics and Genomics) ;
Vasse, Marc (Consorcio Hospital. General Universitario) ;
Smadja, David M. (Paris University. European Georges Pompidou Hospital) ;
Migaud, Mélanie (University of Paris. Imagine Institute) ;
Hadjadj, Jérome (Hôpital Cochin. Department of Internal Medicine) ;
Terrier, Benjamin (Université de Paris. Department of Internal Medicine) ;
Duffy, Darragh (Pasteur Institute) ;
Quintana-Murci, Lluis (Institut Pasteur. Collège de France) ;
van de Beek, Diederik (Amsterdam UMC. University Medical Center) ;
Roussel, Lucie (McGill University Health Centre) ;
Vinh, Donald C. (McGill University Health Centre) ;
Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ;
Haerynck, Filomeen (Ghent University Hospital. (Bèlgica)) ;
Dalmau, David (Fundació Docència i Recerca Mútua Terrassa) ;
Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ;
Nussenzweig, Michel (Howard Hughes Medical Institute) ;
Boisson-Dupuis, Stephanie (The Rockefeller University. St. Giles Laboratory of Human Genetics of Infectious Diseases) ;
Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Vogt, Guillaume (University of Paris. Neglected Human Genetics Laboratory) ;
Mogensen, Trine Hyrup (Aarhus University) ;
Oler, Andrew J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Gu, Jingwen (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ;
Burbelo, Peter D. (Division of Intramural Research. National Institute of Dental Craniofacial Research (NIDCR). NIH) ;
Cohen, Jeffrey I. (Laboratory of Infectious Diseases. Division of Intramural Research. NIAID. NIH) ;
Biondi, Andrea (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ;
Bettini, Laura Rachele (Pediatric Department. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBMOspedale) ;
D'Angio, Mariella (University of Milano-Bicocca. Pediatric Department) ;
Bonfanti, Paolo (University of Milano-Bicocca. Department of Infectious Diseases) ;
Rossignol, Patrick (University of Lorraine. Plurithematic Clinical Investigation Centre) ;
Mayaux, Julien (APHP Pitié-Salpêtrière Hospital) ;
Rieux-Laucat, Frédéric (Laboratory of Immunogenetics of Pediatric Autoimmune Diseases. INSERM. UMR 1163. University of Paris. Imagine Institute) ;
Husebye, Eystein (Karolinska Institutet (Estocolm, Suècia). Department of Medicine) ;
Fusco, Francesca (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ;
Ursini, Matilde Valeria (Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'. IGB-CNR) ;
Imberti, Luisa (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ;
Sottini, Alessandra (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ;
Paghera, Simone (Centro di Ricerca Emato-oncologica AIL (CREA) Laboratory. Diagnostic Department. ASST Spedali Civili di Brescia) ;
Quiros-Roldan, Eugenia (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ;
Rossi, Camillo (Direzione Sanitaria. ASST Spedali Civili di Brescia) ;
Castagnoli, Riccardo (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ;
Montagna, Daniela (Department of Clinical. Surgical. Diagnostic and Pediatric Sciences. University of Pavia) ;
Licari, Amelia (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ;
Marseglia, Gian Luigi (Department of Pediatrics. Fondazione IRCCS Policlinico San Matteo. University of Pavia) ;
Duval, Xavier (Centre d'Investigation Clinique. Inserm CIC 1425. Hôpital Bichat Claude Bernard. APHP) ;
Ghosn, Jade (Hôpital Bichat) ;
Tsang, John S. (Multiscale Systems Biology Section. Laboratory of Immune System Biology. NIAID. NIH) ;
Goldbach-Mansky, Raphaela (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Kisand, Kai (Institute of Biomedicine and Translational Medicine. University of Tartu) ;
Lionakis, Michail S. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Puel, Anne (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Zhang, Shein-Ying (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Holland, Steven M. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Gorochov, Guy (Département d'Immunologie. AP-HP. Hôpital Pitié-Salpétrière) ;
Jouanguy, Emmanuelle (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Rice, Charles M. (Laboratory of Virology and Infectious Disease. The Rockefeller University) ;
Cobat, Aurélie (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Abel, Laurent (St. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. The Rockefeller University) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Casanova, Jean-Laurent (Pediatric Hematology and Immunology Unit. Necker Hospital for Sick Children. AP-HP) ;
The University of Hong Kong
HGID Lab ;
The University of Hong Kong
NIAID-USUHS Immune Response to COVID Group ;
COVID Clinicians ;
COVID-STORM Clinicians ;
Imagine COVID Group ;
French COVID Cohort Study Group ;
The Milieu Intérieur Consortium ;
CoV-Contact Cohort ;
Amsterdam UMC Covid-19 Biobank ;
COVID Human Genetic Effort ;
Universitat Autònoma de Barcelona
Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-w (IFN-w) (13 patients), against the 13 types of IFN-a (36), or against both (52) at the onset of critical disease; a few also had auto-Abs against the other three type I IFNs. [...]
2020 - 10.1126/science.abd4585
Science, Vol. 370 Núm. 6515 (september 2020) , p. eabd4585
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
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Rice, Gillian I. (University of Manchester) ;
Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ;
Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ;
Eyck, Lien Van (Institut Imagine (Paris, França)) ;
Seabra, Luis (Institut Imagine (Paris, França)) ;
Barrea, Christophe (Université de Liège) ;
Battini, Roberta (IRCCS Fondazione Stella Maris) ;
Belot, Alexandre (Université de Lyon) ;
Berg, Stefan (The Queen Silvia Children's Hospital) ;
de Villemeur, Thierry Billette (Sorbonne Université) ;
Bley, Annette E. (University Children's Hospital) ;
Blumkin, Lubov (Tel-Aviv University) ;
Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ;
Briggs, Tracy A. (St Mary's Hospital) ;
Brimble, Elise (Stanford University School of Medicine) ;
Dale, Russell C.. (University of Sydney) ;
Darin, Niklas (The Queen Silvia Children's Hospital) ;
Debray, François-Guillaume (Université de Liège) ;
De Giorgis, Valentina (IRCCS Mondino Foundation) ;
Denecke, Jonas (University Medical Center Hamburg Eppendorf) ;
Doummar, Diane (Hôpital Armand Trousseau (París, França)) ;
Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ;
Eleftheriou, Despina (University College London (UCL)) ;
Estienne, Margherita (Istituto Neurologico Carlo Besta) ;
Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ;
Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ;
Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ;
Hartog, Nicholas (Michigan State University College of Human Medicine) ;
Harvengt, Julie (University of Liège. Department of Medical Genetics) ;
Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ;
Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ;
Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ;
Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ;
Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ;
Marti, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ;
Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ;
Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ;
Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ;
Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ;
Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ;
Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ;
Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ;
Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ;
Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ;
Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe (València)) ;
Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ;
Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ;
Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ;
Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ;
Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ;
Zuberi, Sameer M. (University of Glasgow. School of Medicine) ;
Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ;
Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ;
Universitat Autònoma de Barcelona
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. [...]
2020 - 10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849
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