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11 p, 903.6 KB |
Complete mitochondrial DNA profile in stroke : A geographical matched case-control study in Spanish population
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Onieva, Ana (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Martin, Joan (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Cuesta-Aguirre, Daniel R (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Planells, Violeta (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Coronado-Zamora, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Beyer, Katrin (Institut Germans Trias i Pujol) ;
Vega, Tomás (Dirección General de Salud Pública de la Junta de Castilla y León) ;
Lozano, José Eugenio (Dirección General de Salud Pública de la Junta de Castilla y León) ;
Santos, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Aluja París, Maria Pilar (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Introduction: Stroke, the second leading cause of death worldwide, is a complex disease influenced by many risk factors among which we can find reactive oxygen species (ROS). Since mitochondria are the main producers of cellular ROS, nowadays studies are trying to elucidate the role of these organelles and its DNA (mtDNA) variation in stroke risk. [...]
2023 -  10.1016/j.mito.2023.10.001
Mitochondrion, Vol. 73 (November 2023) , p. 51-61
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13 p, 453.4 KB |
Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association
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Moreno, Olga M. (Pontificia Universidad Javeriana) ;
Sanchez, Ana I. (Centro Medico Imbanaco de Cali) ;
Herreño, Angélica (Pontificia Universidad Javeriana) ;
Giraldo, Gustavo (Pontificia Universidad Javeriana) ;
Suarez, Fernando (Hospital Universitario de San Ignacio) ;
Prieto, Juan Carlos (Pontificia Universidad Javeriana) ;
Clavijo, Ana Shaia (Pontificia Universidad Javeriana) ;
Olaya, Mercedes (Hospital Universitario de San Ignacio) ;
Vargas, Yaris (Hospital Universitario de San Ignacio) ;
Benítez, Javier (CNIO: Centro Nacional de Investigaciones Oncologicas) ;
Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Rojas, Adriana (Pontificia Universidad Javeriana) ;
Universitat Autònoma de Barcelona
VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. [...]
2020 - 10.1159/000510910
Molecular Syndromology, Vol. 11 Núm. 5-6 (december 2020) , p. 271-283
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11 p, 1.4 MB |
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
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Lucia-Campos, Cristina (Universidad de Zaragoza. Unidad de Genética Clínica y Genómica Funcional. Departamento de Farmacología-Fisiología. Facultad de Medicina. Centro de Investigación Biomédica en Red de Enfermedades Raras. Instituto de Investigación Sanitaria Aragón) ;
Valenzuela, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Latorre Pellicer, Ana (Universidad de Zaragoza. Unidad de Genética Clínica y Genómica Funcional. Departamento de Farmacología-Fisiología. Facultad de Medicina. Centro de Investigación Biomédica en Red de Enfermedades Raras. Instituto de Investigación Sanitaria Aragón) ;
Ros-Pardo, David (Centro de Biología Molecular Severo Ochoa. Molecular Modeling Group) ;
Gil-Salvador, Marta (Universidad de Zaragoza. Unidad de Genética Clínica y Genómica Funcional. Departamento de Farmacología-Fisiología. Facultad de Medicina. Centro de Investigación Biomédica en Red de Enfermedades Raras. Instituto de Investigación Sanitaria Aragón) ;
Arnedo, María (Universidad de Zaragoza. Unidad de Genética Clínica y Genómica Funcional. Departamento de Farmacología-Fisiología. Facultad de Medicina. Centro de Investigación Biomédica en Red de Enfermedades Raras. Instituto de Investigación Sanitaria Aragón) ;
Puisac, Beatriz (Universidad de Zaragoza. Unidad de Genética Clínica y Genómica Funcional. Departamento de Farmacología-Fisiología. Facultad de Medicina. Centro de Investigación Biomédica en Red de Enfermedades Raras. Instituto de Investigación Sanitaria Aragón) ;
Castells Sarret, Neus (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Plaja, Alberto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Tenes, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cusco, Ivon (Institut d'Investigació Biomèdica Sant Pau) ;
Trujillano, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ramos, Feliciano J. (Instituto de Investigación Sanitaria de Aragón) ;
Tizzano, Eduardo F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Gómez-Puertas, Paulino (Centro de Biología Molecular Severo Ochoa. Molecular Modeling Group) ;
Pié, Juan (Universidad de Zaragoza. Unidad de Genética Clínica y Genómica Funcional. Departamento de Farmacología-Fisiología. Facultad de Medicina. Centro de Investigación Biomédica en Red de Enfermedades Raras. Instituto de Investigación Sanitaria Aragón)
Cornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. [...]
2022 - 10.3390/genes13081413
Genes, Vol. 13 Núm. 8 (august 2022) , p. 1413
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14 p, 3.9 MB |
Copy-number intratumor heterogeneity increases the risk of relapse in chemotherapy-naive stage colon cancer
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Lahoz, Sara (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Archilla, Ivan (Universitat de Barcelona) ;
Asensio, Elena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernández-Illán, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Ferrer Menduiña, Queralt (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
López-Prades, Sandra (Universitat de Barcelona) ;
Nadeu, Ferran (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Del Rey Azpiri, Javier (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Sanz-Pamplona, Rebeca (Institut d'Investigació Biomèdica de Bellvitge) ;
Lozano, Juan José (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Castells, Antoni (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cuatrecasas, Miriam (Universitat de Barcelona) ;
Camps, Jordi (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Optimal selection of high-risk patients with stage II colon cancer is crucial to ensure clinical benefit of adjuvant chemotherapy. Here, we investigated the prognostic value of genomic intratumor heterogeneity and aneuploidy for disease recurrence. [...]
2022 - 10.1002/path.5870
The Journal of Pathology, Vol. 257, Num. 1 (April 2022) , p. 68-81
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4 p, 185.6 KB |
Real-time quantitative PCR-based system for determining transgene copy number in transgenic animals
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Ballester Devis, Maria (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Castelló Farré, Anna (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Ibáñez, Elena (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Folch, Josep M. (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
In this paper, we describe a rapid and accurate real-time quantitative PCR-based system to determine transgene copy number in transgenic animals. We used the 2 method to analyze different transgenic lines without the requirement of a control sample previously determined by Southern blot analysis. [...]
2004 - 10.2144/04374st06
BioTechniques, Vol. 37 Núm. 4 (october 2004) , p. 610-613
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10 p, 2.4 MB |
Sarcoma classification by DNA methylation profiling
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Koelsche, Christian (Heidelberg University Hospital (Alemanya)) ;
Schrimpf, Daniel (German Cancer Research Center) ;
Stichel, Damian (German Cancer Research Center) ;
Sill, Martin (German Cancer Research Center) ;
Sahm, Felix (German Cancer Research Center) ;
Reuss, David E. (German Cancer Research Center) ;
Blattner, Mirjam (German Cancer Research Center) ;
Worst, Barbara (Heidelberg University Hospital (Alemanya)) ;
Heilig, Christoph E. (German Cancer Consortium) ;
Beck, Katja (German Cancer Research Center) ;
Horak, Peter (German Cancer Consortium) ;
Kreutzfeldt, Simon (German Cancer Consortium) ;
Paff, Elke (Heidelberg University Hospital (Alemanya)) ;
Stark, Sebastian (Heidelberg University Hospital (Alemanya)) ;
Johann, Pascal (Heidelberg University Hospital (Alemanya)) ;
Selt, Florian (German Cancer Research Center) ;
Ecker, Jonas (German Cancer Research Center) ;
Sturm, Dominik (Heidelberg University Hospital (Alemanya)) ;
Pajtler, Kristian W. (Heidelberg University Hospital (Alemanya)) ;
Reinhardt, Annekathrin (German Cancer Research Center) ;
Wefers, Annika K. (German Cancer Research Center) ;
Sievers, Philipp (German Cancer Research Center) ;
Ebrahimi, Azadeh (German Cancer Research Center) ;
Suwala, Abigail (German Cancer Research Center) ;
Fernández-Klett, Francisco (German Cancer Research Center) ;
Casalini, Belén (German Cancer Research Center) ;
Korshunov, Andrey (German Cancer Research Center) ;
Hovestadt, Volker (Harvard Medical School) ;
Kommoss, Felix K.F. (DHeidelberg University Hospital) ;
Kriegsmann, Mark (Heidelberg University Hospital (Alemanya)) ;
Schick, Matthias (German Cancer Research Center) ;
Bewerunge-Hudler, Melanie (German Cancer Research Center) ;
Milde, Till (German Cancer Research Center) ;
Witt, Olaf (German Cancer Research Center) ;
Kulozik, Andreas E. (eidelberg University Hospital) ;
Kool, Marcel (German Cancer Research Center) ;
Romero-Pérez, Laura (LMU Munich) ;
Grünewald, Thomas G.P. (LMU Munich) ;
Kirchner, Thomas (LMU Munich) ;
Wick, Wolfgang (German Cancer Research Center) ;
Platten, Michael (German Cancer Research Center) ;
Unterberg, Andreas (Heidelberg University Hospital (Alemanya)) ;
Uhl, Matthias (Heidelberg Institute of Radiation Oncology) ;
Abdollahi, Amir (German Cancer Research Center) ;
Debus, Jürgen (German Cancer Research Center) ;
Lehner, Burkhard (Heidelberg University Hospital (Alemanya)) ;
Thomas, Christian (University Hospital of Münster (Alemanya)) ;
Hasselblatt, Martin (University Hospital of Münster (Alemanya)) ;
Paulus, Werner (University Hospital of Münster (Alemanya)) ;
Hartmann, Christian (Hannover Medical School) ;
Staszewski, Ori (University of Freiburg) ;
Prinz, Marco (University of Freiburg) ;
Hench, Jürgen (University Hospital Basel (Basilea, Suïssa)) ;
Frank, Stephan (University Hospital Basel (Basilea, Suïssa)) ;
Versleijen-Jonkers, Yvonne M.H. (Radboud University Medical Center) ;
Weidema, Marije E. (Radboud University Medical Center) ;
Mentzel, Thomas (Dermatopathology Bodensee) ;
Griewank, Klaus (University Duisburg-Essen) ;
De Álava, Enrique (Universidad de Sevilla) ;
Díaz-Martín, Juan (Instituto de Biomedicina de Sevilla) ;
Idoate Gastearena, Miguel A. (Clínica Universidad de Navarra) ;
Chang, Kenneth Tou-En (Department of Pathology and Laboratory Medicine. KK Women's and Children's Hospital) ;
Low, Sharon Yin Yee (National Neuroscience Institute (Singapur)) ;
Cuevas-Bourdier, Adrian (Laboratoire National de Santé (França)) ;
Mittelbronn, Michel (Luxembourg Institute of Health) ;
Mynarek, Martin (University Medical Center Hamburg-Eppendorf) ;
Rutkowski, Stefan (University Medical Center Hamburg-Eppendorf) ;
Schüller, Ulrich (Research Institute Children's Cancer Center Hamburg) ;
Mautner, Viktor F. (University Medical Center Hamburg-Eppendorf) ;
Schittenhelm, Jens (Institute of Pathology and Neuropathology. University Hospital of Tübingen) ;
Serrano, Jonathan (New York University School of Medicine) ;
Snuderl, Matija (New York University School of Medicine) ;
Büttner, Reinhard (Uniklinik Köln (Colònia, Alemanya)) ;
Klingebiel, Thomas (University Children's Hospital) ;
Buslei, Rolf (Sozialstiftung Bamberg. Klinikum am Bruderwald) ;
Gessler, Manfred (Würzburg University) ;
Wesseling, Pieter (Amsterdam University Medical Centers/VUmc) ;
Dinjens, Winand N.M. (Erasmus MC Cancer Institute) ;
Brandner, Sebastian (University College London Hospitals NHS Foundation Trust) ;
Jaunmuktane, Zane (University College London) ;
Lyskjær, Iben (University College London) ;
Schirmacher, Peter (Heidelberg University Hospital (Alemanya)) ;
Stenzinger, Albretch (Heidelberg University Hospital (Alemanya)) ;
Brors, Benedikt (German Cancer Research Center) ;
Glimm, Hanno (German Cancer Consortium) ;
Heining, Christoph (German Cancer Consortium) ;
Tirado, Oscar M. (Institut d'Investigació Biomèdica de Bellvitge) ;
Sáinz-Jaspeado, Miguel (Institut d'Investigació Biomèdica de Bellvitge) ;
Mora, Jaume (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Alonso, Javier (Instituto de Salud Carlos III) ;
Garcia del Muro, Xavier (Institut d'Investigació Biomèdica de Bellvitge) ;
Moran, S (Institut d'Investigació Biomèdica de Bellvitge) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Benhamida, Jamal K. (Memorial Sloan Kettering Cancer Center) ;
Ladanyi, Marc (Department of Pathology. Memorial Sloan Kettering Cancer Center) ;
Wardelmann, Eva (University Hospital of Münster (Alemanya)) ;
Antonescu, Cristina (Memorial Sloan Kettering Cancer Center) ;
Flanagan, Adrienne (University College London Cancer Institute) ;
Dirksen, Uta (University Duisburg-Essen) ;
Hohenberger, Peter (University of Heidelberg) ;
Baumhoer, Daniel (University Hospital Basel (Basilea, Suïssa)) ;
Hartmann, Wolfgang (University Hospital of Münster (Alemanya)) ;
Vokuhl, Christian (Universitätsklinikum Schleswig-Holstein (Alemanya)) ;
Flucke, Uta (Radboud University Medical Center) ;
Petersen, Iver (Institute of Pathology) ;
Mechtersheimer, Gunhild (Heidelberg University Hospital (Alemanya)) ;
Capper, David (Charité - Universitätsmedizin Berlin) ;
Jones, David T.W. (PGerman Cancer Research Center) ;
Fröhling, Stefan (German Cancer Consortium) ;
Pfister, Stefan M. (Heidelberg University Hospital (Alemanya)) ;
von Deimling, Andreas (German Cancer Research Center)
Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. [...]
2021 - 10.1038/s41467-020-20603-4
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 498
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9 p, 1.1 MB |
Refinement of computational identification of somatic copy number alterations using DNA methylation microarrays illustrated in cancers of unknown primary
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Blecua, Pedro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Davalos, Veronica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
De Villasante, Izar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Merkel, Angelika (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Musulén, Eva (Hospital Universitari General de Catalunya) ;
Coll-Sanmartin, Laia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
High-throughput genomic technologies are increasingly used in personalized cancer medicine. However, computational tools to maximize the use of scarce tissues combining distinct molecular layers are needed. [...]
2022 - 10.1093/bib/bbac161
Briefings in Bioinformatics, Vol. 23 Núm. 5 (september 2022) , p. bbac161
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9 p, 1.1 MB |
MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension
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Canut, Maria Isabel (Centre d'Oftalmologia Barraquer (Barcelona, Catalunya)) ;
Villa, O. (Quantitative Genomic Medicine Laboratories (qGenomics)) ;
Kudsieh, B. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Mattlin, H. (Quantitative Genomic Medicine Laboratories (qGenomics)) ;
Banchs, I. (Quantitative Genomic Medicine Laboratories (qGenomics)) ;
González, J.R. (Universitat Pompeu Fabra) ;
Armengol, Lluís (Quantitative Genomic Medicine Laboratories (qGenomics)) ;
Casaroli-Marano, Ricardo Pedro (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). [...]
2021 - 10.1038/s41598-020-80954-2
Scientific reports, Vol. 11 Núm. 1 (december 2021) , p. 1583
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13 p, 1.4 MB |
Identification of Leishmania infantum Epidemiology, Drug Resistance and Pathogenicity Biomarkers with Nanopore Sequencing
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Martí-Carreras, Joan (Nano1Health S.L.) ;
Carrasco, Marina (Nano1Health S.L.) ;
Gómez-Ponce, Marcel (Nano1Health S.L.) ;
Noguera-Julian, Marc (Nano1Health S.L.) ;
Fisa, Roser (Universitat de Barcelona. Departament de Biologia, Sanitat i Medi Ambient) ;
Riera, Cristina (Universitat de Barcelona. Departament de Biologia, Sanitat i Medi Ambient) ;
Alcover, M. Magdalena (Universitat de Barcelona. Departament de Biologia, Sanitat i Medi Ambient) ;
Roura, Xavier (Universitat Autònoma de Barcelona. Hospital Clínic Veterinari) ;
Ferrer i Caubet, Lluís (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Francino, Olga (Universitat Autònoma de Barcelona. Servei Veterinari de Genètica Molecular (SVGM))
The emergence of drug-resistant strains of the parasite Leishmania infantum infecting dogs and humans represents an increasing threat. L. infantum genomes are complex and unstable with extensive structural variations, ranging from aneuploidies to multiple copy number variations (CNVs). [...]
2022 - 10.3390/microorganisms10112256
Microorganisms, Vol. 10 (november 2022)
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