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6 p, 291.5 KB |
Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer
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Martín, A.J.M. (Hospital General Universitario Gregorio Marañón) ;
Ortega, I. (Gendiag) ;
Font, Carme (Hospital Clínic i Provincial de Barcelona) ;
Pachón, V. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Castellón, V. (Complejo Hospitalario de Torrecárdenas) ;
Martínez-Marín, V. (Hospital Universitario La Paz (Madrid)) ;
Salgado, M. (Complejo Hospitalario Universitario de Ourense) ;
Martínez, E. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Calzas, J. (Hospital Universitario de Fuenlabrada ( Madrid)) ;
Rupérez, A. (Hospital Universitario Fundación Jiménez Díaz) ;
Souto, Juan Carlos (Institut d'Investigació Biomèdica Sant Pau) ;
Martín, M. (Hospital General Universitario Gregorio Marañón) ;
Salas, E. (Gendiag) ;
Soria Fernández, José Manuel (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Venous thromboembolism (VTE) is a leading cause of death among patients with cancer. Outpatients with cancer should be periodically assessed for VTE risk, for which the Khorana score is commonly recommended. [...]
2018 -  10.1038/s41416-018-0027-8
British Journal of Cancer, Vol. 118 Núm. 8 (january 2018) , p. 1056-1061
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33 p, 892.7 KB |
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
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Mullins, Niamh ;
Kang, JooEun ;
Campos, Adrian I. ;
Coleman, Jonathan R.I. ;
Edwards, Alexis C. ;
Galfalvy, Hanga ;
Levey, Daniel F. ;
Lori, Adriana ;
Shabalin, Andrey ;
Starnawska, Anna ;
Su, Mei-Hsin ;
Watson, Hunna J. ;
Adams, Mark ;
Awasthi, Swapnil ;
Gandal, Michael ;
Hafferty, Jonathan D. ;
Hishimoto, Akitoyo ;
Kim, Minsoo ;
Okazaki, Satoshi ;
Otsuka, Ikuo ;
Ripke, Stephan ;
Ware, Erin B. ;
Bergen, Andrew W. ;
Berrettini, Wade H. ;
Bohus, Martin ;
Brandt, Harry ;
Chang, Xiao ;
Chen, Wei J. ;
Chen, Hsi-Chung ;
Crawford, Steven ;
Crow, Scott ;
DiBlasi, Emily ;
Duriez, Philibert ;
Fernández-Aranda, Fernando (Hospital Universitari de Bellvitge) ;
Fichter, Manfred M. ;
Gallinger, Steven ;
Glatt, Stephen J. ;
Gorwood, Philip ;
Guo, Yiran ;
Hakonarson, Hakon ;
Halmi, Katherine A. ;
Hwu, Hai-Gwo ;
Jain, Sonia ;
Jamain, Stéphane ;
Jiménez-Murcia, Susana (Hospital Universitari de Bellvitge) ;
Johnson, Craig ;
Kaplan, Allan S. ;
Kaye, Walter H. ;
Keel, Pamela K. ;
Kennedy, James L. ;
Klump, Kelly L. ;
Li, Dong (Children's Hospital of Philadelphia (Pennsilvània)) ;
Liao, Shih-Cheng ;
Lieb, Klaus ;
Lilenfeld, Lisa ;
Liu, Chih-Min ;
Magistretti, Pierre J. ;
Marshall, Christian R. ;
Mitchell, James E. ;
Monson, Eric T. ;
Myers, Richard M. ;
Pinto, Dalila ;
Powers, Abigail ;
Ramoz, Nicolas ;
Roepke, Stefan ;
Rozanov, Vsevolod ;
Scherer, Stephen W. ;
Schmahl, Christian ;
Sokolowski, Marcus ;
Strober, Michael ;
Thornton, Laura M. ;
Treasure, Janet ;
Tsuang, Ming T. ;
Witt, Stephanie H. ;
Woodside, D. Blake ;
Yilmaz, Zeynep ;
Zillich, Lea ;
Adolfsson, Rolf ;
Agartz, Ingrid ;
Air, Tracy M. ;
Alda, Martin ;
Alfredsson, Lars ;
Andreassen, Ole A. ;
Anjorin, Adebayo ;
Appadurai, Vivek ;
Soler Artigas, María (Hospital Universitari Vall d'Hebron) ;
Van der Auwera, Sandra ;
Azevedo, M. Helena ;
Bass, Nicholas ;
Bau, Claiton Henrique Dotto ;
Baune, Bernhard T. ;
Bellivier, Frank ;
Berger, Klaus ;
Biernacka, Joanna M. ;
Bigdeli, Tim B. ;
Binder, Elisabeth B. ;
Boehnke, Michael ;
Boks, Marco P. ;
Bosch, Rosa (Hospital Universitari Vall d'Hebron) ;
Braff, David L. ;
Bryant, Richard ;
Budde, Monika ;
Byrne, Enda M. ;
Cahn, Wiepke ;
Casas Brugué, Miquel (Hospital Universitari Vall d'Hebron) ;
Castelao, Enrique ;
Cervilla, Jorge A. ;
Chaumette, Boris ;
Cichon, Sven ;
Corvin, Aiden ;
Craddock, Nicholas ;
Craig, David ;
Degenhardt, Franziska ;
Djurovic, Srdjan ;
Edenberg, Howard J. ;
Fanous, Ayman H. ;
Foo, Jerome C. ;
Forstner, Andreas J. ;
Frye, Mark ;
Fullerton, Janice M. ;
Gatt, Justine M. ;
Gejman, Pablo V. ;
Giegling, Ina ;
Grabe, Hans J. ;
Green, Melissa J. ;
Grevet, Eugenio H. ;
Grigoroiu-Serbanescu, Maria ;
Gutierrez, Blanca ;
Guzman-Parra, Jose ;
Hamilton, Steven P. ;
Hamshere, Marian L. ;
Hartmann, Annette ;
Hauser, Joanna ;
Heilmann-Heimbach, Stefanie ;
Hoffmann, Per ;
Ising, Marcus ;
Jones, Ian ;
Jones, Lisa A. ;
Jonsson, Lina ;
Kahn, René S. ;
Kelsoe, John R. ;
Kendler, Kenneth S. ;
Kloiber, Stefan ;
Koenen, Karestan C. ;
Kogevinas, M ;
Konte, Bettina ;
Krebs, Marie-Odile ;
Landén, Mikael ;
Lawrence, Jacob ;
Leboyer, Marion ;
Lee, Phil H. ;
Levinson, Douglas F. ;
Liao, Calwing ;
Lissowska, Jolanta ;
Lucae, Susanne ;
Mayoral-Cleries, Fermín ;
McElroy, Susan L. ;
McGrath, Patrick ;
McGuffin, Peter ;
McQuillin, Andrew ;
Medland, Sarah E. ;
Mehta, Divya ;
Melle, Ingrid ;
Milaneschi, Yuri ;
Mitchell, Philip B. ;
Molina, Esther ;
Morken, Gunnar ;
Bo Mortensen, Preben ;
Müller-Myhsok, Bertram ;
Nievergelt, Caroline ;
Nimgaonkar, Vishwajit ;
Nöthen, Markus M. ;
O'Donovan, Michael C. (Cardiff University) ;
Ophoff, Roel A. ;
Owen, Michael J. ;
Pato, Carlos ;
Pato, Michele T. ;
Penninx, Brenda WJH ;
Pimm, Jonathan ;
Pistis, Giorgio ;
Potash, James B. ;
Power, Robert A. ;
Preisig, Martin ;
Quested, Digby ;
Ramos-Quiroga, Josep Antoni (Hospital Universitari Vall d'Hebron) ;
Reif, Andreas ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron) ;
Richarte, Vanesa (Hospital Universitari Vall d'Hebron) ;
Rietschel, Marcella ;
Rivera, Margarita ;
Roberts, Andrea ;
Roberts, Gloria ;
Rouleau, Guy A. ;
Rovaris, Diego L. ;
Rujescu, Dan ;
Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron) ;
Sanders, Alan R. ;
Schofield, Peter R. ;
Schulze, Thomas G. ;
Scott, Laura J. ;
Serretti, Alessandro ;
Shi, Jianxin ;
Shyn, Stanley I. ;
Sirignano, Lea ;
Sklar, Pamela ;
Smeland, Olav B. ;
Smoller, Jordan W. ;
Sonuga-Barke, Edmund J.S. ;
Spalletta, Gianfranco ;
Strauss, John S. ;
Świątkowska, Beata ;
Trzaskowski, Maciej ;
Turecki, Gustavo ;
Vilar-Ribó, L (Hospital Universitari Vall d'Hebron) ;
Vincent, John B. ;
Völzke, Henry ;
Walters, James T.R. ;
Weickert, Cynthia Shannon ;
Weickert, Thomas W. ;
Weissman, Myrna M. ;
Williams, Leanne M. ;
Wray, Naomi R. ;
Zai, Clement C. ;
Ashley-Koch, Allison E. ;
Beckham, Jean C. ;
Hauser, Elizabeth R. ;
Hauser, Michael A. ;
Kimbrel, Nathan A. ;
Lindquist, Jennifer H. ;
McMahon, Benjamin ;
Oslin, David W. ;
Qin, Xuejun ;
Agerbo, Esben ;
Børglum, Anders D. ;
Breen, Gerome ;
Erlangsen, Annette ;
Esko, Tõnu ;
Gelernter, Joel ;
Hougaard, David M. ;
Kessler, Ronald C. ;
Kranzler, Henry R. ;
Li, Qingqin S. ;
Martin, Nicholas G. ;
McIntosh, Andrew M. ;
Mors, Ole ;
Nordentoft, Merete ;
Olsen, Catherine M. ;
Porteous, David ;
Ursano, Robert J. ;
Wasserman, Danuta ;
Werge, Thomas ;
Whiteman, David C. ;
Bulik, Cynthia M. ;
Coon, Hilary ;
Demontis, Ditte ;
Docherty, Anna R. ;
Kuo, Po-Hsiu ;
Lewis, Cathryn M. ;
Mann, J. John ;
Rentería, Miguel E. ;
Smith, Daniel J. ;
Stahl, Eli A. ;
Stein, Murray B. ;
Streit, Fabian ;
Willour, Virginia ;
Ruderfer, Douglas M. ;
Universitat Autònoma de Barcelona
Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. [...]
2021 - 10.1016/j.biopsych.2021.05.029
Biological psychiatry, Vol. 91 (september 2021) , p. 313-327
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13 p, 1.9 MB |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
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Guzmán-Jiménez, Andrea (Instituto de Investigación Sanitaria de Granada) ;
González-Muñoz, Sara (Instituto de Investigación Sanitaria de Granada) ;
Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ;
Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe (València)) ;
Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe (València)) ;
Luján, Saturnino (Instituto de Investigación Sanitaria La Fe (València)) ;
Santos-Ribeiro, Samuel (University of Lisbon. Department of Obstetrics and Gynecology) ;
Castilla, José Antonio (CEIFER Biobanco-GAMETIA) ;
Gonzálvo, María Carmen (Hospital Universitario Virgen de las Nieves (Granada)) ;
Clavero, Ana (Hospital Universitario Virgen de las Nieves (Granada)) ;
Vicente, F.Javier (Hospital Universitario Virgen de las Nieves (Granada)) ;
Maldonado, Vicente (Complejo Hospitalario de Jaén) ;
Villegas-Salmerón, Javier (Centro de Investigación Biomédica (CIBM). Universidad de Granada. Departamento de Genética e Instituto de Biotecnología) ;
Burgos, Miguel (Centro de Investigación Biomédica (CIBM). Universidad de Granada. Departamento de Genética e Instituto de Biotecnología) ;
Jiménez, Rafael (Centro de Investigación Biomédica (CIBM). Universidad de Granada. Departamento de Genética e Instituto de Biotecnología) ;
Pinto, Maria Graça (Complejo Hospitalario de Jaén) ;
Pereira, Isabel (Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte. Departamento de Obstetrícia. Ginecologia e Medicina da Reprodução) ;
Nunes, Joaquim (Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte. Departamento de Obstetrícia. Ginecologia e Medicina da Reprodução) ;
Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ;
López-Rodrigo, Olga (Fundació Puigvert) ;
Pereira-Caetano, Iris (Instituto Nacional de Saúde Dr. Ricardo Jorge. Departamento de Genética Humana) ;
Marques, Patricia Isabel (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Carvalho, Filipa (Faculdade de Medicina da Universidade do Porto. Serviço de Genética. Departamento de Patologia) ;
Barros, Alberto (Faculdade de Medicina da Universidade do Porto. Serviço de Genética. Departamento de Patologia) ;
Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ;
Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Gonçalves, João (ToxOmics-Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ;
Lopes, Alexandra M. (CGPP-IBMC-Centro de Genética Preditiva e Preventiva. Instituto de Biologia Molecular e Celular. Universidade do Porto) ;
Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ;
Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ;
Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ;
Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada)
Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). [...]
2022 - 10.3389/fcell.2022.1089782
Frontiers in Cell and Developmental Biology, Vol. 10 (December 2022) , p. 1089782
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14 p, 2.7 MB |
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
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Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ;
Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ;
Guzmán-Jimenez, Andrea (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ;
Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe) ;
Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe) ;
Luján, Saturnino (Instituto de Investigación Sanitaria La Fe) ;
Romeu, Gema (Instituto de Investigación Sanitaria La Fe) ;
Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ;
Castilla, José Antonio (CEIFER-GAMETIA Biobank) ;
Gonzalvo, M. Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ;
Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ;
Vicente, F. Javier (UGC de Urología. HU Virgen de las Nieves) ;
Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ;
González-Muñoz, Sara (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ;
Rodríguez-Martín, Inmaculada (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Burgos, Miguel (Universidad de Granada. Departamento de Genética) ;
Jiménez, Rafael (Universidad de Granada. Departamento de Genética) ;
Pinto, Maria Graça (Centro Hospitalar Universitário de Lisboa Central) ;
Pereira, Isabel (Centro Hospitalar Universitário de Lisboa Norte) ;
Nunes, Joaquim (Departamento de Obstetrícia. Ginecologia e Medicina da Reprodução. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte) ;
Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ;
López-Rodrigo, Olga (Laboratory of Seminology and Embryology. Andrology Service-Fundació Puigvert) ;
Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ;
Marques, Patricia Isabel (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ;
Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ;
Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ;
Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Gonçalves, João (ToxOmics-Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ;
Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ;
Lopes, AlexandraM. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ;
Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular)
We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). [...]
2022 - 10.3390/jpm12060932
Journal of personalized medicine, Vol. 12 Núm. 6 (june 2022) , p. 932
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8 p, 213.5 KB |
Incorporating genetic and clinical data into the prediction of thromboembolism risk in patients with lymphoma
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Bastos, Mariana (Universidad Complutense de Madrid. Departamento de Biología Celular) ;
Ortiz, J. (Hospital General Universitario Gregorio Marañón) ;
Pradillo, V. (Hospital General Universitario Gregorio Marañón) ;
Salas, Eduardo (Gendiag. S.L. Scientific Department) ;
Marínez-Laperche, C. (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM)) ;
Muñoz, A. (Hospital General Universitario Gregorio Marañón) ;
Buño, I. (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM)) ;
Diéz-Martin, J.L. (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM)) ;
Soria Fernández, José Manuel (Institut d'Investigació Biomèdica Sant Pau) ;
Pascual Izquierdo, C. (Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM))
Background: The incorporation of genetic variables into risk scores for predicting venous thromboembolic events (VTE) could improve their capacity to identify those patients for whom thromboprophylaxis would be most beneficial. [...]
2021 - 10.1002/cam4.4280
Cancer Medicine, Vol. 10 Núm. 21 (november 2021) , p. 7585-7592
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17 p, 693.0 KB |
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke
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Jaworek, Thomas ;
Xu, Huichun ;
Gaynor, Brady ;
Cole, John W. ;
Rannikmae, Kristiina ;
Stanne, Tara M. ;
Tomppo, Liisa ;
Abedi, Vida ;
Amouyel, Philippe ;
Armstrong, Nicole D. ;
Attia, John ;
Bell, Steven ;
Benavente, Oscar R. ;
Boncoraglio, Giorgio B. ;
Butterworth, Adam ;
Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ;
Chen, Zhengming ;
Chong, Michael ;
Cruchaga, Carlos ;
Cushman, Mary ;
Danesh, John ;
Debette, Stéphanie ;
Duggan, David J. ;
Durda, Jon Peter ;
Engstrom, Gunnar ;
Enzinger, Chris ;
Faul, Jessica D. ;
Fecteau, Natalie S. ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Gieger, Christian ;
Giese, Anne-Katrin ;
Grewal, Raji P. ;
Grittner, Ulrike ;
Havulinna, Aki S. ;
Heitsch, Laura ;
Hochberg, Marc C. ;
Holliday, Elizabeth ;
Hu, Jie ;
Ilinca, Andreea ;
Irvin, Marguerite R. ;
Jackson, Rebecca D. ;
Jacob, Mina A. ;
Rabionet, Raquel ;
Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Johnson, Julie A. ;
Kamatani, Yoichiro ;
Kardia, Sharon L.R. ;
Koido, Masaru ;
Kubo, Michiaki ;
Lange, Leslie ;
Lee, Jin-Moo ;
Lemmens, Robin ;
Levi, Christopher R. ;
Li, Jiang ;
Li, Liming ;
Lin, Kuang ;
Lopez, Haley ;
Luke, Sothear ;
Maguire, Jane ;
McArdle, Patrick F. ;
McDonough, Caitrin W. ;
Meschia, James F. (Mayo Clinic (Jacksonville, Estats Units d'Amèrica)) ;
Metso, Tiina ;
Müller-Nurasyid, Martina ;
Dichgans, Martin ;
O'Donnell, Martin ;
Peddareddygari, Leema R. ;
Pera, Joanna ;
Perry, James A. ;
Peters, Annette ;
Putaala, Jukka ;
Ray, Debashree ;
Rexrode, Kathryn ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rosand, Jonathan ;
Rothwell, Peter M. ;
Rundek, Tatjana ;
Ryan, Kathleen A. ;
Sacco, Ralph L. ;
Salomaa, Veikko ;
Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Schmidt, Reinhold ;
Sharma, Pankaj ;
Slowik, Agnieszka ;
Smith, Jennifer A. ;
Smith, Nicholas L. ;
Wassertheil-Smoller, Sylvia ;
Söderholm, Martin ;
Stine, O. Colin ;
Strbian, Daniel ;
Sudlow, Cathie L.M. ;
Tatlisumak, Turgut ;
Terao, Chikashi ;
Thijs, Vincent ;
Torres-Aguila, Nuria P.. ;
Trégouët, David-Alexandre ;
Tuladhar, Anil M. ;
Veldink, Jan ;
Walters, Robin G. ;
Weir, David R. ;
Woo, Daniel ;
Worrall, Bradford B. ;
Hong, Charles C. ;
Ross, Owen A. ;
Zand, Ramin ;
de Leeuw, Frank-Erik ;
Lindgren, Arne G. ;
Paré, Guillaume ;
Anderson, Christopher D. ;
Markus, Hugh S. ;
Jern, Christina ;
Malik, Rainer ;
Dichgans, Martin ;
Mitchell, Braxton D. ;
Kittner, Steven J. ;
Universitat Autònoma de Barcelona
Current genome-wide association studies of ischemic stroke have focused primarily on late-onset disease. As a complement to these studies, we sought to identify the contribution of common genetic variants to risk of early-onset ischemic stroke. [...]
2022 - 10.1212/WNL.0000000000201006
Neurology, Vol. 99 (october 2022) , p. e1738-e1754
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9 p, 736.4 KB |
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer : a prospective study
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Brédart, Anne (Paris University. Psychopathology and Health Process Laboratory) ;
Kop, Jean-Luc (Université de Lorraine, 2LPN) ;
Tüchler, Anja (Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University Hospital of Cologne, University of Cologne) ;
De Pauw, Antoine (INSERM U830, Paris University. Institut Curie, Department of Genetics) ;
Cano, Alejandra (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Dick, Julia (Cancer Center Cologne) ;
Rhiem, Kerstin (Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University Hospital of Cologne, University of Cologne) ;
Devilee, Peter (Leiden University Medical Centre, Department of Human Genetics, Department of Pathology, S4-P) ;
Schmutzler, Rita (Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University Hospital of Cologne, University of Cologne) ;
Stoppa-Lyonnet, Dominique (INSERM U830, Paris University. Institut Curie, Department of Genetics) ;
Dolbeault, Sylvie (CESP, University Paris-Sud, UVSQ, INSERM, University Paris-Saclay)
We examined how often genetic clinicians correctly identify psychosocial difficulties in women at high breast cancer risk and explored effects of this assessment and the genetic test result on counselees' distress. [...]
2022 - 10.1038/s41431-022-01096-9
European Journal of Human Genetics, Vol. 30 (april 2022) , p. 1067-1075
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1 p, 709.1 KB |
Author Correction : Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter (Utrecht University) ;
van der Spek, Rick A. A. (Utrecht University) ;
Bakker, Mark K. (Utrecht University) ;
van Vugt, Joke J. F. A. (Utrecht University) ;
Hop, Paul J. (Utrecht University) ;
Zwamborn, Ramona A. J. (Utrecht University) ;
de Klein, Niek (University Medical Centre Groningen) ;
Westra, Harm-Jan (University Medical Centre Groningen) ;
Bakker, Olivier B. (University Medical Centre Groningen) ;
Deelen, Patrick (Utrecht University) ;
Shireby, Gemma (University of Exeter) ;
Hannon, Eilis (University of Exeter) ;
Moisse, Matthieu (University Hospitals Leuven (Bèlgica)) ;
Baird, Denis (University of Bristol) ;
Restuadi, Restuadi (University of Queensland) ;
Dolzhenko, Egor (Illumina) ;
Dekker, Annelot M. (Utrecht University) ;
Gawor, Klara (Utrecht University) ;
Westeneng, Henk-Jan (Utrecht University) ;
Tazelaar, Gijs H. P. (Utrecht University) ;
van Eijk, Kristel R. (Utrecht University) ;
Kooyman, Maarten (Utrecht University) ;
Byrne, Ross P. (Trinity College Dublin) ;
Doherty, Mark (Trinity College Dublin) ;
Heverin, Mark (Trinity College Dublin) ;
Al Khleifat, Ahmad (King's College LondonNeuroscience Institute) ;
Iacoangeli, Alfredo (King's College London) ;
Shatunov, Aleksey (King's College London) ;
Ticozzi, Nicola (Università degli Studi di Milano) ;
Cooper-Knock, Johnathan (University of Sheffield) ;
Smith, Bradley N. (King's College London) ;
Gromicho, Marta (Universidade de Lisboa) ;
Chandran, Siddharthan (University of Edinburgh. UK Dementia Research Institute) ;
Pal, Suvankar (University of Edinburgh. UK Dementia Research Institute) ;
Morrison, Karen E. (Queen's University Belfast) ;
Shaw, Pamela J. (University of Sheffield) ;
Hardy, John (University College London) ;
Orrell, Richard W. (University College London) ;
Sendtner, Michael (University Hospital Würzburg) ;
Meyer, Thomas (Humboldt University) ;
Başak, Nazli (Koç University, School of Medicine, KUTTAM-NDAL) ;
van der Kooi, Anneke J. (Academic Medical Center) ;
Ratti, Antonia (Università degli Studi di Milano) ;
Fogh, Isabella (King's College London) ;
Gellera, Cinzia (Fondazione IRCCS Istituto Neurologico 'Carlo Besta') ;
Lauria, Giuseppe (University of Milan) ;
Corti, Stefania (IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico) ;
Cereda, Cristina (IRCCS Mondino Foundation) ;
Sproviero, Daisy (IRCCS Mondino Foundation) ;
D'Alfonso, Sandra (University of Eastern Piedmont) ;
Sorarù, Gianni (University of Padova) ;
Siciliano, Gabriele (University of Pisa) ;
Filosto, Massimiliano (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Chiò, Adriano (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Calvo, Andrea (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Moglia, Cristina (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Brunetti, Maura (University of Torino) ;
Canosa, Antonio (Azienda Ospedaliero Universitaria Città della Salute e della Scienza) ;
Grassano, Maurizio (University of Torino) ;
Beghi, Ettore (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Pupillo, Elisabetta (Istituto di Ricerche Farmacologiche Mario Negri IRCCS) ;
Logroscino, Giancarlo (University of Bari at 'Pia Fondazione Card G. Panico' Hospital. Department of Clinical Research in Neurology) ;
Nefussy, Beatrice (Tel Aviv Sourasky Medical Center) ;
Osmanovic, Alma (University Hospital Essen (Alemanya)) ;
Nordin, Angelica (Umeå University) ;
Lerner, Yossef (Hadassah Medical Center) ;
Zabari, Michal (Hadassah Medical Center) ;
Gotkine, Marc (Hadassah Medical Center) ;
Baloh, Robert H. (Cedars-Sinai Medical Center) ;
Bell, Shaughn (Cedars-Sinai Medical Center) ;
Vourc'h, Patrick (UMR 1253, Université de Tours) ;
Corcia, Philippe (CHU de Tours. Centre de référence sur la SLA) ;
Couratier, Philippe (Université de Limoges) ;
Millecamps, Stéphanie (Sorbonne Université) ;
Meininger, Vincent (Hôpital des Peupliers) ;
Salachas, François (Hôpital de la Pitié-Salpêtrière) ;
Mora Pardina, Jesus S. (ALS Unit, Hospital San Rafael, Madrid) ;
Assialioui, Abdelilah (Hospital Universitari de Bellvitge) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Dion, Patrick A. (McGill University) ;
Ross, Jay P. (McGill University) ;
Ludolph, Albert C. (Ulm University) ;
Weishaupt, Jochen H. (Heidelberg University) ;
Brenner, David (Heidelberg University) ;
Freischmidt, Axel (German Center for Neurodegenerative Diseases) ;
Bensimon, Gilbert (CHU-Nîmes) ;
Brice, Alexis (Sorbonne Université) ;
Durr, Alexandra (Sorbonne Université) ;
Payan, Christine A. M. (Hôpital de la Pitié-Salpêtrière) ;
Saker-Delye, Safa (Genethon, CNRS UMR) ;
Wood, Nicholas W.. (UCL Institute of Neurology (Regne Unit)) ;
Topp, Simon (King's College London.) ;
Rademakers, Rosa (Mayo Clinic College of Medicine) ;
Tittmann, Lukas (Christian Albrechts-University Kiel) ;
Lieb, Wolfgang (Christian Albrechts-University Kiel) ;
Franke, Andre (Kiel University) ;
Ripke, Stephan (Charité - Universitätsmedizin Berlin) ;
Braun, Alice (Charité - Universitätsmedizin Berlin) ;
Kraft, Julia (Charité - Universitätsmedizin Berlin) ;
Whiteman, David C. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Olsen, Catherine M. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Uitterlinden, André G. (Erasmus Medical Center Rotterdam) ;
Hofman, Albert (Erasmus Medical Center Rotterdam. Department of Epidemiology) ;
Rietschel, Marcella (Central Institute of Mental Health) ;
Cichon, Sven (Institute of Neuroscience and Medicine INM-1) ;
Nöthen, Markus M. (Life and Brain Center. Department of Genomics) ;
Amouyel, Philippe (University of Lille) ;
Traynor, Bryan J. (Johns Hopkins University) ;
Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Mitne Neto, Miguel (Universidade de São Paulo) ;
Cauchi, Ruben J. (University of Malta) ;
Ophoff, Roel A. (University of California) ;
Wiedau-Pazos, Martina (University of California) ;
Lomen-Hoerth, Catherine (University of California. Department of Neurology) ;
Van Deerlin, Vivianna (University of Pennsylvania) ;
Grosskreutz, Julian (University of Luebeck) ;
Roediger, Annekathrin (Jena University Hospital (Alemanya)) ;
Gaur, Nayana (Jena University Hospital (Alemanya)) ;
Jörk, Alexander (Jena University Hospital (Alemanya)) ;
Barthel, Tabea (Jena University Hospital (Alemanya)) ;
Theele, Erik (Jena University Hospital (Alemanya)) ;
Ilse, Benjamin (Jena University Hospital (Alemanya)) ;
Stubendorff, Beatrice (Jena University Hospital (Alemanya)) ;
Witte, Otto W. (Jena University Hospital (Alemanya)) ;
Steinbach, Robert (Jena University Hospital (Alemanya)) ;
Hübner, Christian A. (Jena University Hospital (Alemanya)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Brylev, Lev (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences. Department of Functional Biochemistry of the Nervous System) ;
Fominykh, Vera (Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences) ;
Demeshonok, Vera (Medical Clinic of the St. Petersburg) ;
Ataulina, Anastasia (Bujanov Moscow Clinical Hospital, Moscow, Russia) ;
Rogelj, Boris (University of Ljubljana) ;
Koritnik, Blaž (University Medical Centre Ljubljana) ;
Zidar, Janez (University Medical Centre Ljubljana) ;
Ravnik-Glavač, Metka (University of Ljubljana) ;
Glavač, Damjan (University of Ljubljana) ;
Stević, Zorica (University of Belgrade) ;
Drory, Vivian (Tel Aviv University) ;
Povedano, Monica (Hospital Universitari de Bellvitge) ;
Blair, Ian P. (Macquarie University) ;
Kiernan, Matthew C. (University of Sydney) ;
Benyamin, Beben (University of South Australia) ;
Henderson, Robert D. (Royal Brisbane and Women's Hospital) ;
Furlong, Sarah (Macquarie University) ;
Mathers, Susan (Calvary Health Care Bethlehem) ;
McCombe, Pamela A. (University of Queensland) ;
Needham, Merrilee (Murdoch University) ;
Ngo, Shyuan T. (University of Queensland) ;
Nicholson, Garth A. (Concord Repatriation General Hospital) ;
Pamphlett, Roger (University of Sydney) ;
Rowe, Dominic B. (Macquarie University) ;
Steyn, Frederik J. (University of Queensland) ;
Williams, Kelly (Macquarie University) ;
Mather, Karen A. (Neuroscience Research Australia Institute) ;
Sachdev, Perminder S. (the Prince of Wales Hospital) ;
Henders, Anjali K. (University of Queensland) ;
Wallace, Leanne (University of Queensland) ;
De Carvalho, Mamede (Universidade de Lisboa) ;
Pinto, Susana (Universidade de Lisboa) ;
Petri, Susanne (Hannover Medical School) ;
Weber, Markus (Kantonsspital St. Gallen) ;
Rouleau, Guy A. (McGill University) ;
Silani, Vincenzo (Università degli Studi di Milano) ;
Curtis, Charles J. (King's College London) ;
Breen, Gerome (King's College London) ;
Glass, Jonathan D. (Emory University School of Medicine) ;
Brown, Robert H. (University of Massachusetts Medical School) ;
Landers, John E. (University of Massachusetts Medical School) ;
Shaw, Christopher E. (King's College London) ;
Andersen, Peter Munch (Umeå University) ;
Groen, Ewout J. N. (Utrecht University) ;
van Es, Michael A. (Utrecht University) ;
Pasterkamp, R. Jeroen (Utrecht University) ;
Fan, Dongsheng (Peking University) ;
Garton, Fleur C. (University of Queensland) ;
McRae, Allan F. (University of Queensland) ;
Smith, George Davey (Bristol Medical School) ;
Gaunt, Tom (Bristol Medical School) ;
Eberle, Michael A. (Illumina) ;
Mill, Jonathan (University of Exeter) ;
McLaughlin, Russell L. (Trinity College Dublin) ;
Hardiman, Orla (Trinity College Dublin) ;
Kenna, Kevin P. (Utrecht University) ;
Wray, Naomi R. (University of Queensland) ;
Tsai, Ellen (Biogen. Translational Biology) ;
Runz, Heiko (Biogen. Translational Biology) ;
Franke, Lude (University Medical Centre Groningen) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Van Damme, Philip (University Hospitals Leuven (Bèlgica)) ;
van den Berg, Leonard H. (Utrecht University) ;
Veldink, Jan (Utrecht University) ;
Universitat Autònoma de Barcelona
2022 - 10.1038/s41588-022-01020-3
Nature genetics, Vol. 54 (january 2022) , p. 361
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9.
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40 p, 490.3 KB |
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
/
Nakanishi, Tomoko (Japan Society for the Promotion of Science, Tokyo) ;
Pigazzini, Sara (University of Milano-Bicocca, Milano) ;
Degenhardt, Frauke (Universitätsklinikum Schleswig-Holstein (Alemanya)) ;
Cordioli, Mattia (Univerisity of Helsinki) ;
Butler-Laporte, Guillaume (McGill University, Montréal, Québec) ;
Maya-Miles, Douglas (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Nafría-Jiménez, Beatriz (Osakidetza-Servicio Vasco de Salud, Donostia) ;
Bouysran, Youssef (Université Libre de Bruxelles) ;
Niemi, Mari (Univerisity of Helsinki) ;
Palom, Adriana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ellinghaus, David (University of Copenhagen) ;
Khan, Atlas (Columbia University, New York) ;
Martínez-Bueno, Manuel (Universidad de Granada) ;
Rolker, Selina (University Hospital Bonn (Bonn, Alemanya)) ;
Amitano, Sara (Azienda Ospedaliero-Universitaria Senese) ;
Roade, Luisa (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Fava, Francesca (University of Siena, Italy) ;
Spinner, Christoph D. (Technical University of Munich) ;
Prati, Daniele (Università degli Studi di Milano) ;
Bernardo, D (Universidad de Valladolid) ;
Garcia, Federico (Instituto de Investigación Sanitaria de Granada) ;
Darcis, Gilles (Liège University Hospital (Bèlgica)) ;
Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ;
Holter, Jan Cato (Institute of Clinical Medicine, University of Oslo, Oslo, Norway) ;
Banales, Jesus (Universidad del País Vasco) ;
Frithiof, Robert (Uppsala University, Sweden) ;
Kiryluk, Krzysztof (Columbia University, New York) ;
Duga, Stefano (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Asselta, Rosanna (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Pereira, Alexandre C. (Universidade de São Paulo) ;
Romero-Gómez, Manuel (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Bujanda, Luis (Universidad del País Vasco) ;
Hov, Johannes R.. (Oslo University Hospital (Oslo, Noruega)) ;
Migeotte, Isabelle (Fonds de la Recherche Scientifique (FNRS), Brussels) ;
Renieri, Alessandra (University of Siena, Italy) ;
Planas, Anna M. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Ludwig, Kerstin U. (University Hospital Bonn (Bonn, Alemanya)) ;
Buti, Maria (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Rahmouni, Souad (University of Liege) ;
Alarcón-Riquelme, Marta E. (Karolinska Institutet (Estocolm, Suècia)) ;
Schulte, Eva C. (LMU Munich University, Munich) ;
Franke, Andre (University Hospital Schleswig-Holstein, Kiel) ;
Karlsen, Tom H. (Oslo University Hospital (Oslo, Noruega)) ;
Valenti, Luca (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ;
Zeberg, Hugo (Max-Planck Institute for Evolutionary Anthropology, Leipzig, Germany) ;
Richards, J. Brent (King's College London) ;
Ganna, Andrea (Massachusetts General Hospital (Boston))
There is considerable variability in COVID-19 outcomes amongst younger adults-and some of this variation may be due to genetic predisposition. We characterized the clinical implications of the major genetic risk factor for COVID-19 severity, and its age-dependent effect, using individual-level data in a large international multi-centre consortium. [...]
2021 - 10.1101/2021.03.07.21252875
medRxiv, march 2021
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10.
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10 p, 1.5 MB |
No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity
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Garcia-Etxebarria, Koldo (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Bracho, Maria Alma (CIBER de Epidemiologia y Salud Pública (Madrid)) ;
Galán, Juan Carlos (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Pumarola Suñé, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castilla, Jesus (Instituto de Investigación Sanitaria de Navarra) ;
Ortiz de Lejarazu, Raúl (Hospital Clínico Universitario de Valladolid) ;
Rodríguez-Dominguez, Mario (Red Española de Investigación en Patología Infecciosa) ;
Quintela, Inés (Universidade de Santiago de Compostela) ;
Bonet, Núria (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Garcia-Garcerà, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Domínguez, Ángela (Universitat de Barcelona. Departament de Salut Pública) ;
González-Candelas, Fernando (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Calafell, Francesc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Universitat Autònoma de Barcelona
While most patients affected by the influenza A(H1N1) pandemic experienced mild symptoms, a small fraction required hospitalization, often without concomitant factors that could explain such a severe course. [...]
2015 - 10.1371/journal.pone.0135983
PloS one, Vol. 10 (september 2015)
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