Dipòsit Digital de Documents de la UAB 988 registres trobats  inicianterior222 - 231següentfinal  anar al registre: La cerca s'ha fet en 0.02 segons. 
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9 p, 1.1 MB New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1 / Mora, Mireia (Hospital Clínic i Provincial de Barcelona) ; Hanzu, Felicia A. (Hospital Clínic i Provincial de Barcelona) ; Pradas-Juni, Marta (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Aranda, Gloria (Hospital Clínic i Provincial de Barcelona) ; Halperin, Irene (Hospital Clínic i Provincial de Barcelona) ; Puig Domingo, Manuel (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Aguiló, Sira (Hospital Clínic i Provincial de Barcelona) ; Fernández-Rebollo, Eduardo (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Universitat Autònoma de Barcelona. Departament de Medicina
Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300) is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. [...]
2014 - 10.1371/journal.pone.0101616
PloS one, Vol. 9 (july 2014)  
223.
8 p, 222.0 KB Serum sCD163 Levels Are Associated with Type 2 Diabetes Mellitus and Are Influenced by Coffee and Wine Consumption : Results of the Di@bet.es Study / Rojo-Martínez, Gemma (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Maymó-Masip, Elsa (Hospital Universitari Joan XXIII de Tarragona) ; Rodríguez, M. Mar (Institut d'Investigació Biomèdica de Girona) ; Solano, Esther (Hospital Universitari Joan XXIII de Tarragona) ; Goday Arnó, Albert (Universitat Autònoma de Barcelona. Departament de Medicina) ; Soriguer, Federico (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Valdés, Sergio (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Chaves, Felilpe Javier (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Delgado, Elias (Hospital Universitario Central de Asturias) ; Colomo, Natalia (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Hernández, Pilar (Hospital Universitari Joan XXIII de Tarragona) ; Vendrell, Joan (Hospital Universitari Joan XXIII de Tarragona) ; Chacón, Matilde R. (Hospital Universitari Joan XXIII de Tarragona)
Serum levels of soluble TNF-like weak inducer of apoptosis (sTWEAK) and its scavenger receptor CD163 (sCD163) have been linked to insulin resistance. We analysed the usefulness of these cytokines as biomarkers of type 2 diabetes in a Spanish cohort, together with their relationship to food consumption in the setting of the Di@bet. [...]
2014 - 10.1371/journal.pone.0101250
PloS one, Vol. 9 (june 2014)  
224.
8 p, 406.8 KB To Achieve an Earlier IFN-γ Response Is Not Sufficient to Control Mycobacterium tuberculosis Infection in Mice / Vilaplana, Cristina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Prats, Clara (Universitat Politècnica de Catalunya. Departament de Física i Enginyeria Nuclear) ; Marzo, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Barril, Carles (Universitat Politècnica de Catalunya. Departament de Física i Enginyeria Nuclear) ; Vegué, Marina (Universitat Politècnica de Catalunya. Departament de Física i Enginyeria Nuclear) ; Díaz, Jorge (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Valls, Joaquim (Universitat Politècnica de Catalunya. Departament de Física i Enginyeria Nuclear) ; López, Daniel (Universitat Politècnica de Catalunya. Departament de Física i Enginyeria Nuclear) ; Cardona, Pere-Joan (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
The temporo-spatial relationship between the three organs (lung, spleen and lymph node) involved during the initial stages of Mycobacterium tuberculosis infection has been poorly studied. As such, we performed an experimental study to evaluate the bacillary load in each organ after aerosol or intravenous infection and developed a mathematical approach using the data obtained in order to extract conclusions. [...]
2014 - 10.1371/journal.pone.0100830
PloS one, Vol. 9 (june 2014)  
225.
9 p, 4.2 MB Rat Middle Cerebral Artery Occlusion Is Not a Suitable Model for the Study of Stroke-Induced Spontaneous Infections / Campos Martorell, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernandez Guillamon, Maria Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rosell Novel, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gomis Rodríguez, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Salat, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; García Bonilla, Lídia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Montaner, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Infections related to stroke-induced immunodepression are an important complication causing a high rate of death in patients. Several experimental studies in mouse stroke models have described this process but it has never been tested in other species such as rats. [...]
2014 - 10.1371/journal.pone.0099169
PloS one, Vol. 9 (june 2014)  
226.
13 p, 1.3 MB Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease / Escott-Price, Valentina (Clinical Cardiff University) ; Bellenguez, Céline (Institut Pasteur de Lille, Lille, France) ; Wang, Li-San (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Choi, Seung-Hoan (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Harold, Denise (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Jones, Lesley (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Holmans, Peter (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Gerrish, Amy (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Vedernikov, Alexey (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Richards, Alexander (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; DeStefano, Anita L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Lambert, Jean-Charles (Institut Pasteur de Lille, Lille, France) ; Ibrahim-Verbaas, Carla A. (Department of Epidemiology and Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ; Sims, Rebecca (Cardiff University. Institute of Psychological Medicine and Clinical Neurosciences) ; Jun, Gyungah (Department of Ophthalmology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Bis, Joshua C. (Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America) ; Beecham, Gary W. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Grenier-Boley, Benjamin (Institut Pasteur de Lille, Lille, France) ; Russo, Giancarlo (Functional Genomics Center Zurich, ETH/University of Zurich, Zurich, Switzerland) ; Thornton-Wells, Tricia A. (Vanderbilt University (Nashville, Estats Units d'Amèrica)) ; Denning, Nicola (Cardiff University) ; Smith, Albert V. (Icelandic Heart Association, Kopavogur, Iceland) ; Chouraki, Vincent (Boston University School of Medicine) ; Thomas, Charlene (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Ikram, M. Arfan (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ; Zelenika, Diana (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ; Vardarajan, Badri N. (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Kamatani, Yoichiro (Fondation Jean Dausset- CEPH, Paris, France) ; Lin, Chiao-Feng (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Schmidt, Helena (Institute for Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria) ; Kunkle, Brian (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ; Dunstan, Melanie L. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Vronskaya, Maria (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Johnson, Andrew D. (NHLBI Cardiovascular Epidemiology and Human Genomics Branch, The Framingham Heart Study, Framingham, Massachusetts, United States of America) ; Ruiz, Agustin (Fundació ACE) ; Bihoreau, Marie-Thérèse (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ; Reitz, Christiane (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Pasquier, Florence (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Hollingworth, Paul (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Hanon, Olivier (University Paris Descartes, Sorbonne Paris V, Broca Hospital, Geriatrics department, Paris, France) ; Fitzpatrick, Annette L. (Departments of Epidemiology and Global Health, University of Washington, Seattle, Washington, United States of America) ; Buxbaum, Joseph D (Icahn School of Medicine at Mount Sinai) ; Campion, Dominique (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Crane, Paul K. (Department of Medicine, University of Washington, Seattle, Washington, United States of America) ; Baldwin, Clinton (Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Becker, Tim (German Center for Neurodegenerative Diseases (DZNE), Bonn, and Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany) ; Gudnason, Vilmundur (Icelandic Heart Association, Kopavogur, Iceland) ; Cruchaga, Carlos (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ; Craig, David (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Amin, Najaf (Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ; Lopez, Oscar L. (Departments of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America) ; De Jager, Philip L. (Program in Medical and Population Genetics, Broad Institute, Boston, Massachusetts, United States of America) ; Deramecourt, Vincent (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Johnston, Janet A. (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Evans, Denis (Rush Institute for Healthy Aging, Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, United States of America) ; Lovestone, Simon (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Letenneur, Luc (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ; Hernández, Isabel (Fundació ACE) ; Rubinsztein, David C. (Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom) ; Eiriksdottir, Gudny (Icelandic Heart Association, Kopavogur, Iceland) ; Sleegers, Kristel (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Goate, Alison M. (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ; Fiévet, Nathalie (Institut Pasteur de Lille, Lille, France) ; Huentelman, Matthew J. (Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America) ; Gill, Michael (Discipline of Psychiatry, Trinity College, Dublin, Ireland) ; Brown, Kristelle (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ; Kamboh, M. Ilyas (Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America) ; Keller, Lina (Aging Reasearch Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Stockholm University, Stockholm, Sweden) ; Barberger-Gateau, Pascale (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; McGuinness, Bernadette (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Larson, Eric B. (Group Health Research Institute, Group Health, Seattle, Washington, United States of America) ; Myers, Amanda J. (Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, Florida, United States of America) ; Dufouil, Carole (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ; Todd, Stephen (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Wallon, David (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Love, Seth (University of Bristol Institute of Clinical Neurosciences, School of Clinical Sciences, Frenchay Hospital, Bristol, United Kingdom) ; Rogaeva, Ekaterina (Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada) ; Gallacher, John (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ; St George Hyslop, Peter (Cambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleo, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Bayer, Anthony (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ; Tsuang, Debby W. (Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, United States of America) ; Yu, Lei (Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, United States of America) ; Tsolaki, Magda (3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece) ; Bossù, Paola (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ; Spalletta, Gianfranco (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ; Proitsi, Petra (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Collinge, John (MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom) ; Sorbi, Sandro (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ; Garcia, Florentino Sanchez (Hospital Universitario de Gran Canaria Dr. Negrín) ; Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Hardy, John (Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, London, United Kingdom) ; Naranjo, Maria Candida Deniz (Hospital Universitario de Gran Canaria Dr. Negrín) ; Bosco, Paolo (IRCCS Associazione Oasi Maria SS, Troina, Italy) ; Clarke, Robert (Oxford Healthy Aging Project (OHAP), Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom) ; Brayne, Carol (Cognitive Function and Ageing Study (CFAS), Institute of Public Health, University of Cambridge, Cambridge, United Kingdom) ; Galimberti, Daniela (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Scarpini, Elio (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Bonuccelli, Ubaldo (Neurological Clinic, University of Pisa, Pisa, Italy) ; Mancuso, Michelangelo (Neurological Clinic, University of Pisa, Pisa, Italy) ; Siciliano, Gabriele (Neurological Clinic, University of Pisa, Pisa, Italy) ; Moebus, Susanne (Urban Epidemiology, Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University Duisburg-Essen, Essen, Germany) ; Mecocci, Patrizia (Section of Gerontology and Geriatrics, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy) ; Zompo, Maria Del (Section of Neuroscience and Clinical Pharmacology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy) ; Maier, Wolfgang (Department of Psychiatry and Psychotherapy, University of Bonn, Germany and German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany) ; Hampel, Harald (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ; Pilotto, Alberto (Gerontology and Geriatrics Research Laboratory, I.R.C.C.S. Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy) ; Frank-García, Ana (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Panza, F. (University of Bari Aldo Moro) ; Solfrizzi, Vincenzo (Department of Geriatrics,Center for Aging Brain,University of Bari, Bari, Italy) ; Caffarra, Paolo (Center for Cognitive Disorders AUSL, Parma, Italy) ; Nacmias, Benedetta (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ; Perry, William (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Mayhaus, Manuel (Department Of Psychiatry, University Hospital, Saarland, Germany) ; Lannfelt, Lars (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ; Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ; Pichler, Sabrina (Department Of Psychiatry, University Hospital, Saarland, Germany) ; Carrasquillo, Minerva M. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Ingelsson, Martin (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ; Beekly, Duane (National Alzheimer's Coordinating Center, University of Washington, Seattle, Washington, United States of America) ; Alvarez, Victoria (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ; Zou, Fanggeng (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Valladares, Otto (University of Pennsylvania Perelman School of Medicine) ; Younkin, Steven G. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Coto, Eliecer (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ; Hamilton-Nelson, Kara L. (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ; Gu, Wei (Department of Psychiatry, University Hospital, Saarland, Germany) ; Razquin, Cristina (Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra School of Medicine, Pamplona, Spain) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Mateo, Ignacio (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Owen, Michael J. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Faber, Kelley M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ; Jonsson, Palmi V. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Combarros, Onofre (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; O'Donovan, Michael C. (Cardiff University) ; Cantwell, Laura B. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Soininen, Hilkka (Kuopio University Hospital ( Finlàndia)) ; Blacker, Deborah (Massachusetts General Hospital (Boston)) ; Mead, Simon (University College London. Institute of Neurology) ; Mosley, Thomas H. (Department of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, Mississippi, United States of America) ; Bennett, David A. (Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, United States of America) ; Harris, Tamara B. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ; Fratiglioni, Laura (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Holmes, Clive (Division of Clinical Neurosciences, School of Medicine, University of Southampton, Southampton, United Kingdom) ; de Bruijn, Renee F. A. G. (Departments of Neurology and Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Passmore, Peter (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Montine, Thomas J. (Department of Pathology, University of Washington, Seattle, Washington, United States of America) ; Bettens, Karolien (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Rotter, Jerome I. (Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America) ; Brice, Alexis (AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France) ; Morgan, Kevin (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ; Foroud, Tatiana M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ; Kukull, Walter A. (Department of Epidemiology, University of Washington, Seattle, Washington, United States of America) ; Hannequin, Didier (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Powell, John F. (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Nalls, Michael A.. (Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America) ; Ritchie, Karen (Imperial College, London, United Kingdom) ; Lunetta, Kathryn L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Kauwe, John S. K. (Department of Biology, Brigham Young University, Provo, Utah, United States of America) ; Boerwinkle, Eric (Human Genetics Center and Div. of Epidemiology, University of Texas Health Sciences Center at Houston, Houston, Texas, United States of America) ; Riemenschneider, Matthias (Department of Psychiatry, University Hospital, Saarland, Germany) ; Boada, Mercè (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hiltunen, Mikko (Kuopio University Hospital ( Finlàndia)) ; Martin, Eden R. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Schmidt, Reinhold (Department of Neurology, Medical University Graz, Graz, Austria) ; Rujescu, Dan (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ; Dartigues, Jean-François (Centre de Mémoire de Ressources et de Recherche de Bordeaux, CHU de Bordeaux, Bordeaux, France) ; Mayeux, Richard (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Tzourio, Christophe (Inserm U708, Victor Segalen University, Bordeaux, France) ; Hofman, Albert (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ; Nöthen, Markus M. (University of Bonn. Life and Brain Center) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Psaty, Bruce M. (Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America) ; Haines, Jonathan L. (Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America) ; Lathrop, Mark (McGill University and Génome Québec Innovation Centre, Montreal, Canada) ; Pericak-Vance, Margaret A. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Launer, Lenore J. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ; Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Farrer, Lindsay A. (Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; van Duijn, Cornelia M. (Center for Medical Systems Biology, Leiden, The Netherlands) ; Ramirez, Alfredo (Department of Psychiatry and Psychotherapy and Institute of Human Genetics, University of Bonn, Bonn, Germany) ; Seshadri, Sudha (The Framingham Heart Study, Framingham, Massachusetts, United States of America) ; Schellenberg, Gerard D. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Amouyel, Philippe (Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Williams, Julie (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Universitat Autònoma de Barcelona
Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. [...]
2014 - 10.1371/journal.pone.0094661
PloS one, Vol. 9 (june 2014)  
227.
7 p, 268.2 KB X Chromosome-Linked CNVs in Male Infertility : Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance / Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Gunning, Adam C. (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Giachini, Claudia (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Daguin, Fabrice (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Balercia, Giancarlo (Polytechnic University of Marche, Ancona, Italy) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Giacco, Deborah Lo (Institut d'Investigació Biomèdica Sant Pau) ; Ruiz-Castañé, Eduardo (Institut d'Investigació Biomèdica Sant Pau) ; Forti, Gianni (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Spermatogenesis is a highly complex process involving several thousand genes, only a minority of which have been studied in infertile men. In a previous study, we identified a number of Copy Number Variants (CNVs) by high-resolution array-Comparative Genomic Hybridization (a-CGH) analysis of the X chromosome, including 16 patient-specific X chromosome-linked gains. [...]
2014 - 10.1371/journal.pone.0097746
PloS one, Vol. 9 (june 2014)  
228.
11 p, 1.6 MB Human Genome Variation and the Concept of Genotype Networks / Dall'Olio, Giovanni Marco (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Wagner, Andreas (The Santa Fe Institute) ; Laayouni, Hafid (Universitat Autònoma de Barcelona)
Genotype networks are a concept used in systems biology to study sets of genotypes having the same phenotype, and the ability of these to bring forth novel phenotypes. In the past they have been applied to determine the genetic heterogeneity, and stability to mutations, of systems such as metabolic networks and RNA folds. [...]
2014 - 10.1371/journal.pone.0099424
PloS one, Vol. 9, Issue 8 (June 2014) , art. e107347  
229.
7 p, 485.9 KB Risk Prediction Scores for Recurrence and Progression of Non-Muscle Invasive Bladder Cancer : An International Validation in Primary Tumours / Vedder, Moniek M. (Erasmus Medical Centre, Rotterdam, the Netherlands) ; Márquez, Mirari (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; de Bekker-Grob, Esther W. (Erasmus Medical Centre, Rotterdam, the Netherlands) ; Calle, M. Luz (Universitat de Vic - Universitat Central de Catalunya) ; Dyrskjøt, Lars (Aalborg University Hospital (Dinamarca)) ; Kogevinas, Manoils (Centre de Recerca en Epidemiologia Ambiental) ; Segersten, Ulrika (Uppsala University, Uppsala, Sweden) ; Malmström, Per-Uno (Uppsala University, Uppsala, Sweden) ; Algaba, Ferran (Institut d'Investigació Biomèdica Sant Pau) ; Beukers, Willemien (Erasmus Medical Centre, Rotterdam, the Netherlands) ; Ørntoft, Torben F. (Aalborg University Hospital (Dinamarca)) ; Zwarthoff, Ellen (Erasmus Medical Centre, Rotterdam, the Netherlands) ; Real, Francisco X. (Universitat Pompeu Fabra) ; Malats, Núria (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Steyerberg, Ewout W. (Erasmus Medical Centre, Rotterdam, the Netherlands) ; Universitat Autònoma de Barcelona
We aimed to determine the validity of two risk scores for patients with non-muscle invasive bladder cancer in different European settings, in patients with primary tumours. We included 1,892 patients with primary stage Ta or T1 non-muscle invasive bladder cancer who underwent a transurethral resection in Spain (n = 973), the Netherlands (n = 639), or Denmark (n = 280). [...]
2014 - 10.1371/journal.pone.0096849
PloS one, Vol. 9 (june 2014)  
230.
8 p, 424.1 KB Surveillance of Influenza Viruses in Waterfowl Used As Decoys in Andalusia, Spain / Jurado-Tarifa, Estefanía (Universidad de Córdoba. Departamento de Sanidad Animal) ; Napp Avelli, Sebastián (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal) ; Gómez-Pacheco, Juan Manuel (Consejería de Agricultura, Pesca y Desarrollo Rural de la Junta de Andalucía. Laboratorio de Sanidad y Producción Animal) ; Fernández-Morente, Manuel (Consejería de Agricultura, Pesca y Desarrollo Rural de la Junta de Andalucía. Servicio de Sanidad Animal) ; Jaén-Téllez, Juan Antonio (Consejería de Agricultura, Pesca y Desarrollo Rural de la Junta de Andalucía. Agencia de Gestión Agraria y Pesquera de Andalucía) ; Arenas Montes, Antonio (Universidad de Córdoba. Departamento de Sanidad Animal) ; García-Bocanegra, Ignacio (Universidad de Córdoba. Departamento de Sanidad Animal)
A longitudinal study was carried out to determine the seroprevalence of avian influenza viruses (AIVs) in waterfowl used as decoys in Andalusia, southern Spain. A total of 2319 aquatic birds from 193 flocks were analyzed before and after the hunting season 2011-2012. [...]
2014 - 10.1371/journal.pone.0098890
PloS one, Vol. 9 (june 2014)  
231.
8 p, 959.6 KB CX3CR1 Is a Modifying Gene of Survival and Progression in Amyotrophic Lateral Sclerosis / Lopez-Lopez, Alan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Gamez, Josep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Syriani, Emilio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Morales, Miguel (Synaptic Structural Plasticity Lab (Logroño)) ; Salvado, Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rodríguez, Manuel J. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Mahy, Nicole (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Vidal-Taboada, Jose M. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Universitat Autònoma de Barcelona
The objective of this study was to investigate the association of functional variants of the human CX3CR1 gene (Fractalkine receptor) with the risk of Amyotrophic Lateral Sclerosis (ALS), the survival and the progression rate of the disease symptoms in a Spanish ALS cohort. [...]
2014 - 10.1371/journal.pone.0096528
PloS one, Vol. 9 (may 2014)  

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