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Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
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Amor-Salamanca, Almudena (Health in Code SL) ;
Santana Rodríguez, Alfredo (Universidad de Las Palmas de Gran Canaria) ;
Rasoul, Hazhee (St. Bartholomew's Hospital) ;
Rodríguez-Palomares, José F. (Hospital Universitari Vall d'Hebron) ;
Moldovan, Oana (Centro Hospitalar Universitário Lisboa Norte) ;
Hey, Thomas Morris (Odense University Hospital) ;
Delgado, María Gallego (Instituto de Salud Carlos III) ;
Cuenca, David López (Hospital Clínico Universitario Virgen de la Arrixaca) ;
de Castro Campos, Daniel (Hospital Universitario Puerta de Hierro) ;
Basurte-Elorz, María Teresa (Complejo Hospitalario de Navarra) ;
Macías-Ruiz, Rosa (Instituto de Investigación Biosanitaria de Granada) ;
Fuentes Cañamero, María Eugenia (Hospital Universitario de Badajoz) ;
Galvin, Joseph (University College Dublin School of Medicine) ;
Bilbao Quesada, Raquel (Hospital Álvaro Cunqueiro) ;
de la Higuera Romero, Luis (Health in Code SL) ;
Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
García-Cruz, Loida María (Universidad de Las Palmas de Gran Canaria) ;
Cárdenas-Reyes, Ivonne (Health in Code SL) ;
Jiménez-Jáimez, Juan (Hospital Universitario Virgen de las Nieves) ;
García-Hernández, Soledad (Hospital Universitario San Cecilio) ;
Valverde-Gómez, María (Hospital Universitario 12 de Octubre) ;
Gómez-Díaz, Iria (Health in Code SL) ;
Limeres Freire, Javier (Hospital Universitari Vall d'Hebron) ;
García-Pinilla, José Manuel (Universidad de Málaga) ;
Gimeno-Blanes, Juan R. (Hospital Clínico Universitario Virgen de la Arrixaca) ;
Savattis, Konstantinos (Queen Mary University of London) ;
García-Pavía, Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Ochoa, Juan Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Universitat Autònoma de Barcelona
Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. [...]
2024 -  10.1161/CIRCGEN.123.004404
Circulation. Genomic and Precision Medicine, Vol. 17 (february 2024) , p. e004404
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12 p, 1.2 MB |
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
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Gao, Yixin (Xuzhou Medical University) ;
Wang, Ting (Xuzhou Medical University) ;
Yu, Xinghao (Xuzhou Medical University) ;
Ferrari, Raffaele (Russell Square House) ;
Hernandez, Dena G. (Queen Square) ;
Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Rohrer, Jonathan D. (Queen Square) ;
Ramasamy, Adaikalavan (University of Oxford) ;
Kwok, John B.J. (University of New South Wales) ;
Dobson-Stone, Carol (University of New South Wales) ;
Brooks, William S. (University of New South Wales) ;
Schofield, Peter R. (Neuroscience Research Australia) ;
Halliday, Glenda M. (Neuroscience Research Australia) ;
Hodges, John R. (Neuroscience Research Australia) ;
Piguet, Olivier (Neuroscience Research Australia) ;
Bartley, Lauren (Neuroscience Research Australia) ;
Thompson, Elizabeth (University of Adelaide) ;
Haan, Eric (University of Adelaide) ;
Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ;
Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ;
Boada, Mercè (Institut Català de Neurociéncies Aplicades) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Cruchaga, Carlos (Washington University School of Medicine) ;
Cairns, Nigel J. (Washington University) ;
Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ;
Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ;
Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ;
Scarpini, Elio (University of Milan) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Waldö, Maria Landqvist (Lund University) ;
Nilsson, Karin (Lund University) ;
Nilsson, Christer (Lund University) ;
Mackenzie, Ian R.A. (University of British Columbia) ;
Hsiung, Ging-Yuek R. (University of British Columbia) ;
Mann, David M. A. (Salford Royal Hospital) ;
Grafman, Jordan (Northwestern University) ;
Morris, Christopher M. (Newcastle University) ;
Attems, Johannes (Newcastle University) ;
Griffiths, Timothy D. (Newcastle University Medical School) ;
McKeith, Ian G. (Newcastle University) ;
Thomas, Alan J. (Newcastle University) ;
Pietrini, Pietro (IMT School for Advanced Studies) ;
Huey, Edward D. (Columbia University) ;
Wassermann, Eric M. (National Insititutes of Health) ;
Baborie, Atik (University of Alberta Edmonton) ;
Jaros, Evelyn (Newcastle University) ;
Tierney, Michael C. (National Insititutes of Health) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Razquin, Cristina (Universidad de Navarra) ;
Ortega-Cubero, Sara (Universidad de Navarra) ;
Alonso, Elena (Universidad de Navarra) ;
Perneczky, Robert (West London Mental Health Trust) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Kurz, Alexander (Technische Universität München) ;
Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ;
Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rogaeva, Ekaterina (University of Toronto) ;
St George Hyslop, Peter (University of Cambridge) ;
Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ;
Schlachetzki, Johannes C. M. (University of California San Diego) ;
Uphill, James (University College London. Institute of Neurology) ;
Collinge, John (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Neurology) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ;
Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ;
van der Zee, Julie (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ;
Leber, Isabelle (CNRS UMR 7225) ;
Hannequin, Didier (Rouen University Hospital (França)) ;
Golfier, Véronique (CH Saint Brieuc) ;
Vercelletto, Martine (CHU Nantes) ;
Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ;
Bagnoli, Silvia (University of Florence) ;
Piaceri, Irene (University of Florence) ;
Nielsen, Jørgen E. (Copenhagen University Hospital) ;
Hjermind, Lena E. (University of Copenhagen) ;
Riemenschneider, Matthias (Saarland University) ;
Mayhaus, Manuel (Saarland University) ;
Ibach, Bernd (University Regensburg) ;
Gasparoni, Gilles (Saarland University) ;
Pichler, Sabrina (Saarland University) ;
Gu, Wei (University of Luxembourg) ;
Rossor, Martin N. (Queen Square) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Warren, Jason D. (Queen Square) ;
Spillantini, Maria Grazia (University of Cambridge) ;
Morris, Huw R. (Russell Square House) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ;
Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ;
Snowden, Julie S. (University of Manchester) ;
Rollinson, Sara (University of Manchester) ;
Richardson, Anna (University of Manchester) ;
Gerhard, Alexander (The University of Manchester) ;
Bruni, Amalia C. (ASPCZ) ;
Maletta, Raffaele (ASPCZ) ;
Frangipane, Francesca (ASPCZ) ;
Cupidi, Chiara (ASPCZ) ;
Bernardi, Livia (ASPCZ) ;
Anfossi, Maria (ASPCZ) ;
Gallo, Maura (ASPCZ) ;
Conidi, Maria Elena (ASPCZ) ;
Smirne, Nicoletta (ASPCZ) ;
Rademakers, Rosa (Mayo Clinic Jacksonville) ;
Baker, Matt (Mayo Clinic Jacksonville) ;
Dickson, Dennis W. (Mayo Clinic Jacksonville) ;
Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ;
Petersen, Ronald C. (Mayo Clinic Rochester) ;
Knopman, David (Mayo Clinic Rochester) ;
Josephs, Keith A. (Mayo Clinic Rochester) ;
Boeve, Bradley (Mayo Clinic Rochester) ;
Parisi, Joseph E. (Mayo Clinic Rochester) ;
Seeley, William W. (University of California) ;
Miller, Bruce L. (University of California) ;
Karydas, Anna M. (University of California) ;
Rosen, Howard (University of California) ;
van Swieten, John C. (VU University Medical Centre) ;
Dopper, Elise G. P. (Erasmus Medical Centre) ;
Seelaar, Harro (Erasmus Medical Centre) ;
Pijnenburg, Yolande A. L. (VU University Medical Centre) ;
Scheltens, Philip (VU University Medical Centre) ;
Logroscino, Giancarlo (University of Bari) ;
Capozzo, Rosa (University of Bari) ;
Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ;
Puca, Annibale A. (University of Salerno) ;
Franceschi, Massimo (IRCCS Multimedica) ;
Postiglione, Alfredo (University of Naples Federico II) ;
Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Kristiansen, Mark (Institute of Child Health (ICH)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pasquier, Florence (Univ Lille) ;
Rollin, Adeline (Univ Lille) ;
Deramecourt, Vincent (Univ Lille) ;
Lebouvier, Thibaud (Univ Lille) ;
Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hardy, John (Russell Square House) ;
Momeni, Parastoo (Texas Tech University Health Science Center) ;
Zhao, Huashuo (Xuzhou Medical University) ;
Zeng, Ping (Xuzhou Medical University) ;
Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184
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19 p, 2.7 MB |
The TAGA Study : a Study of Factors Determining Aortic Diameter in Families at High Risk of Abdominal Aortic Aneurysm Reveal Two New Candidate Genes
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Peypoch, Olga (Institut d'Investigació Biomèdica Sant Pau) ;
Paüls-Vergés, Ferran (Institut d'Investigació Biomèdica Sant Pau) ;
Vázquez-Santiago, Miquel (Institut d'Investigació Biomèdica Sant Pau) ;
Dilme, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Romero, José (Institut d'Investigació Biomèdica Sant Pau) ;
Giner, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Plaza, Vicente (Institut d'Investigació Biomèdica Sant Pau) ;
Roman Escudero, Jose (Institut d'Investigació Biomèdica Sant Pau) ;
Soria Fernández, José Manuel (Institut d'Investigació Biomèdica Sant Pau) ;
Camacho, Mercedes (Institut d'Investigació Biomèdica Sant Pau) ;
Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
A variety of disorders are known to be related with aortic geometry, among them abdominal aortic aneurysm (AAA). This work aims to present the main determinants of abdominal aortic diameter in a new cohort of families at high risk of AAA. [...]
2020 - 10.3390/jcm9041242
Journal of clinical medicine, Vol. 9 Núm. 4 (2020) , p. 1242
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12 p, 648.0 KB |
From transformation to chronification of migraine : pathophysiological and clinical aspects
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Torres-Ferrús, M. (Hospital Universitari Vall d'Hebron) ;
Ursitti, F. (Bambino Gesù Children's Hospital) ;
Alpuente, Alicia (Hospital Universitari Vall d'Hebron) ;
Brunello, F. (University Hospital of Padua. Juvenile Headache Centre, Department of Woman's and Child's Health) ;
Chiappino, D. (University of Rome. Department of Internal medicine, Sant'Andrea Hospital) ;
de Vries, T. (Erasmus University Medical Center. Division of Vascular Medicine and Pharmacology, Department of Internal Medicine) ;
Di Marco, S. (Policlinico Paolo Giaccone Hospital, University of Palermo. Department of Biomedicine Neuroscience and Advanced Diagnostics) ;
Ferlisi, S. (Policlinico Paolo Giaccone Hospital, University of Palermo. Department of Biomedicine Neuroscience and Advanced Diagnostics) ;
Guerritore, L. (University of Rome. Department of Internal medicine, Sant'Andrea Hospital) ;
Gonzalez-Garcia, N. (Hospital Clínico San Carlos (Madrid)) ;
Gonzalez-Martinez, A. (Instituto de Investigación Hospital Universitario de la Princesa) ;
Khutorov, D. (Department of Clinical Neurology and Sleep Medicine, The Nikiforov Russian Center of Emergency and Radiation Medicine of EMERCOM of Russia) ;
Kritsilis, M. (Grevena General Hospital) ;
Kyrou, A. (Bern University Hospital) ;
Makeeva, T. (Headache Unit, Department of Neurology, Medical center "New Medical Technologies", Voronezh, Russia) ;
Minguez-Olaondo, A. (Hospital Quirónsalud Donostia) ;
Pilati, L. (Policlinico Paolo Giaccone Hospital, University of Palermo. Department of Biomedicine Neuroscience and Advanced Diagnostics) ;
Serrien, A. (University Hospitals Leuven (Bèlgica)) ;
Tsurkalenko, O. (Dnipropetrovsk medical akademy MOH Ukraine. Department of Neurology and Neurosurgery) ;
Van den Abbeele, D. (Ghent University Hospital. (Bèlgica)) ;
van Hoogstraten, W. S. (Erasmus University Medical Centre. Department of Neuroscience) ;
Lampl, Christian (Headache Medical Center Linz, Ordensklinikum Linz Barmherzige Schwestern) ;
Universitat Autònoma de Barcelona ;
Vall d'Hebron Institut de Recerca (VHIR)
Chronic migraine is a neurological disorder characterized by 15 or more headache days per month of which at least 8 days show typical migraine features. The process that describes the development from episodic migraine into chronic migraine is commonly referred to as migraine transformation or chronification. [...]
2020 - 10.1186/s10194-020-01111-8
Journal of headache and pain, Vol. 21 (april 2020)
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28 p, 2.6 MB |
Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript
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Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Castellano Esteve, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pantano, Lorena (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Giner-Delgado, Carla (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Izquierdo Fontanills, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Gayà Vidal, Magdalena (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Lucas Lledó, José Ignacio (Universitat de València. Institut Cavanilles de Biodiversitat i Biologia Evolutiva) ;
Esko, Tõnu (Estonian Genome Center) ;
Terao, Chikashi (Kyoto University Graduate School of Medicine) ;
Matsuda, Fumihiko (Center for Genomic Medicine. Kyoto University Graduate School of Medicine) ;
Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis is that the selective value of inversions stems in part from their effects on nearby genes, although evidence of this in natural populations is almost nonexistent. [...]
2015 - 10.1371/journal.pgen.1005495
PLoS Genetics, Vol. 11, issue 10 (2015) , art. e1005495
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7 p, 508.5 KB |
Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk
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Figlioli, Gisella (University of Pisa. Department of Biology) ;
Chen, Bowang (German Cancer Research Center (DKFZ). Molecular Genetic Epidemiology (Germany)) ;
Elisei, Rossella (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ;
Romei, Cristina (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ;
Campo, Chiara (University of Pisa. Department of Biology (Italy)) ;
Cipollini, Monica (University of Pisa. Department of Biology (Italy)) ;
Cristaudo, Alfonso (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ;
Bambi, Franco (Blood Centre, Azienda Ospedaliero Universitaria A. Meyer (Italy)) ;
Paolicchi, Elisa (University of Pisa. Department of Biology (Italy)) ;
Hoffmann, Per (University of Basel (Suïssa). Department of Biomedicine) ;
Herms, Stefan (University of Basel (Suïssa). Department of Biomedicine) ;
Kalemba, Michał (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ;
Kula, Dorota (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ;
Pastor Benito, Susana (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Marcos Dauder, Ricardo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Velázquez Henar, Antonia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Jarząb, Barbara (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ;
Landi, Stefano (University of Pisa. Department of Biology (Italy)) ;
Hemminki, Kari (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden)) ;
Gemignani, Federica (University of Pisa. Department of Biology (Italy)) ;
Försti, Asta (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden))
A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22. [...]
2015 - 10.1038/srep08922
Scientific reports, Vol. 5 (March 2015) , art. 8922
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