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1.
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9 p, 406.9 KB |
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
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Fernández-Castillejo, Sara (Universitat Rovira i Virgili) ;
Roig, Bàrbara (Universitat Rovira i Virgili) ;
Melé, Mireia (Universitat Rovira i Virgili) ;
Serrano, Sara (Universitat Rovira i Virgili) ;
Salvat, Mònica (Universitat Rovira i Virgili) ;
Querol, Montserrat (Universitat Rovira i Virgili) ;
Brunet, Joan (Institut d'Investigació Biomèdica de Bellvitge) ;
Pineda, Marta (Institut d'Investigació Biomèdica de Bellvitge) ;
Cisneros, Adela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Parada, David (Institut d'Investigació Sanitària Pere Virgili) ;
Badia, Joan (Universitat Rovira i Virgili) ;
Borràs, Joan (Universitat Rovira i Virgili) ;
Rodríguez-Balada, Marta (Universitat Rovira i Virgili) ;
Gumà, Josep (Universitat Rovira i Virgili)
Background: Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a certain cancer phenotype. [...]
2023 -  10.1136/jmg-2023-109389
Journal of medical genetics, Vol. 61, Num. 1 (december 2023) , p. 69-77
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2.
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10 p, 2.5 MB |
Long-Term Cardiac Safety and Survival Outcomes of Neoadjuvant Pegylated Liposomal Doxorubicin in Elderly Patients or Prone to Cardiotoxicity and Triple Negative Breast Cancer. Final Results of the Multicentre Phase II CAPRICE Study
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Gil-Gil, M.J. (Institut Català d'Oncologia) ;
Bellet Ezquerra, Meritxell (Hospital Universitari Vall d'Hebron) ;
Bergamino, M. (Institut Català d'Oncologia) ;
Morales, S. (Hospital Arnau de Vilanova (València)) ;
Barnadas i Molins, Agustí (Institut d'Investigació Biomèdica Sant Pau) ;
Manso, Luis (Hospital Universitario 12 de Octubre (Madrid)) ;
Saura, Cristina (Hospital Universitari Vall d'Hebron) ;
Fernández-Ortega, A. (Institut Català d'Oncologia) ;
Garcia-Martinez, E. (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Martinez-Jañez, N. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Melé, M. (Hospital Sant Joan) ;
Villagrasa, P. (SOLTI Breast Cancer Research Group) ;
Céliz, Pamela (SOLTI Breast Cancer Research Group) ;
Perez Martin, X. (Institut Català d'Oncologia. L'Hospitalet) ;
Ciruelos, Eva (Department of Medical Oncology. Hospital) ;
Pernas, S. (Institut Català d'Oncologia)
Background: The CAPRICE trial was designed to specifically evaluate neoadjuvant pegylated liposomal doxorubicin (PLD) in elderly patients or in those with other cardiovascular risk factors in whom conventional doxorubicin was contraindicated. [...]
2021 - 10.3389/fonc.2021.645026
Frontiers in Oncology, Vol. 11 (september 2021) , p. 645026
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3.
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20 p, 2.8 MB |
Functional Implications of Human-Specific Changes in Great Ape microRNAs
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Gallego, Alicia (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Melé, Marta (Centre de Regulació Genòmica) ;
Balcells Ortega, Ingrid (University of Helsinki. Department of Biosciences) ;
García-Ramallo, Eva (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Torruella-Loran, Ignasi (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Fernández-Bellon, Hugo (Universitat Autònoma de Barcelona) ;
Abello, Teresa (Zoo de Barcelona) ;
Kondova, Ivanela (Biomedical Primate Research Centre) ;
Bontrop, Ronald (Biomedical Primate Research Centre) ;
Hvilsom, Christina (Copenhagen Zoo) ;
Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ;
Marquès-Bonet, Tomàs (Centro Nacional de Análisis Genómico) ;
Espinosa-Parrilla, Yolanda (University of Magallanes. School of Medicine)
microRNAs are crucial post-transcriptional regulators of gene expression involved in a wide range of biological processes. Although microRNAs are highly conserved among species, the functional implications of existing lineage-specific changes and their role in determining differences between humans and other great apes have not been specifically addressed. [...]
2016 - 10.1371/journal.pone.0154194
PloS one, Vol. 11, Issue 4 (April 2016) , art. e0154194
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4.
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8 p, 990.0 KB |
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
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Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Hernando Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Lorente-Galdos, Belen (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Ramírez, Óscar (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Baeza Delgado, Carlos (Universitat de València. Departament de Bioquímica i Biologia Molecular) ;
Morcillo-Suarez, Carlos (Universitat Pompeu Fabra. Instituto Nacional de Bioinformatica) ;
Alkan, Can (Bilkent University. Department of Computer Engineering) ;
Hormozdiari, Fereydoun (University of Washington. Department of Genome Sciences) ;
Raineri, Emanuele (Centre Nacional d'Anàlisi Genòmica) ;
Estellé, Jordi (Centre Nacional d'Anàlisi Genòmica) ;
Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Valles, Mònica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Ritscher, Lars (University of Leipzig. Institute of Biochemistry) ;
Schöneberg, Torsten (University of Leipzig. Institute of Biochemistry) ;
De la Calle-Mustienes, Elisa (Centro Andaluz de Biología del Desarrollo) ;
Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Rubio Acero, Raquel (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Melé, M. (Universitat Pompeu Fabra. Centre de Regulació Genòmica (CRG-UPF)) ;
Engelken, Johannes (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Gomez-Skarmeta, José Luis (Centro Andaluz de Biología del Desarrollo) ;
Gut, Marta (Centre Nacional d'Anàlisi Genòmica) ;
Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Gut, Ivo (Centre Nacional d'Anàlisi Genòmica) ;
Abello, Teresa (Zoo de Barcelona) ;
Eichler, Evan E. (Howard Hugues Medical Institute) ;
Mingarro, Ismael (Universitat de València. Departament de Bioquímica i Biologia Molecular) ;
Lalueza-Fox, Carles (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ;
Marques-Bonet, Tomas 1975- (Institució Catalana de Recerca i Estudis Avançats)
Background: the only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i. [...]
2013 - 10.1186/1471-2164-14-363
BMC genomics, Vol. 14 (2013) , art. 363
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5.
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5 p, 788.2 KB |
Great ape genetic diversity and population history
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Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Sudmant, Peter H. (Department of Genome Sciences. University of Washington) ;
Kidd, Jeffrey (Department of Genetics. Stanford University) ;
Li, Heng (Department of Genetics. Harvard Medical School, Boston) ;
Kelley, Joanna (Department of Genetics. Stanford University) ;
Lorente-Galdos, Belen (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Veeramah, Krishna (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ;
Woerner, August (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ;
O'Connor, Timothy (Department of Genome Sciences. University of Washington) ;
Santpere, Gabriel (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Cagan, Alexander (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Theunert, Christoph (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Casals, Ferran (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Laayouni, Hafid (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Munch Terkelsen, Kasper (Aarhus University. Bioinformatics Research Centre) ;
Hobolth, Asger (Aarhus University. Bioinformatics Research Centre) ;
Halager, Anders E. (Aarhus University. Bioinformatics Research Centre) ;
Malig, Maika (Department of Genome Sciences. University of Washington) ;
Hernandez-Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Hernando-Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Prüfer, Kay (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Pybus, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Johnstone, Laurel (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ;
Lachmann, Michael (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Alkan, Can (Bilkent University. Faculty of Engineering) ;
Twigg, Dorina (Department of Human Genetics. University of Michigan) ;
Petit Marty, Natalia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Baker, Carl (Department of Genome Sciences. University of Washington) ;
Hormozdiari, Fereydoun (University of Washington. Department of Genome Sciences) ;
Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Wilson, Michael L. (Department of Anthropology. University of Minnesota) ;
Stevison, Laurie (Institute for Human Genetics. University of California San Francisco) ;
Camprubí Sánchez, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Carvalho, Tiago (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Vives, Laura T. (Department of Genome Sciences. University of Washington) ;
Mele, Marta (Centre de Regulació Genòmica) ;
Abelló, María Teresa. (Zoo de Barcelona) ;
Kondova, Ivanela (Biomedical Primate Research Centre) ;
Bontrop, Ronald (Biomedical Primate Research Centre) ;
Pusey, Anne E (Duke University. Department of Evolutionary Anthropology) ;
Lankester, Felix (Washington State University. Paul G. Allen School for Global Animal Health) ;
Kiyang, John A. (Limbe Wildlife Centre) ;
Bergl, Richard A. (North Carolina Zoological Park) ;
Lonsdorf, E. (Franklin and Marshall College. Department of Psychology) ;
Myers, S. (Oxford University. Department of Statistics) ;
Ventura, M. (University of Bari. Department of Genetics and Microbiology) ;
Gagneux, Pascal (University of California San Diego. Department of Cellular and Molecular Medicine) ;
Comas, D. (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Siegismund, H. (University of Copenhagen Department of Biology, Bioinformatics) ;
Blanc, Julie (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Agueda Calpena, Lidia (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Gut, Marta (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Fulton, L. A (Washington University School of Medicine. Genome Sequencing Center) ;
Tishkoff, S. A. (University of Pennsylvania. Department of Biology and Genetics) ;
Mullikin, J. C. (National Institutes of Health Intramural Sequencing Center (Bethesda, Estats Units d'Amèrica)) ;
Wilson, R. K. (Washington University School of Medicine. Genome Sequencing Center) ;
Gut, I. G. (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Gonder, M. K. (University at Albany) ;
Ryder, O. A. (Genetics Division. San Diego Zoo's Institute for Conservation Research) ;
Hahn, B. H. (University of Pennsylvania. Departments of Medicine and Microbiology) ;
Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ;
Akey, J. M. (University of Washington. Department of Genome Sciences) ;
Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Reich, D. (Harvard Medical School. Department of Genetics) ;
Mailund, Thomas (Aarhus University. Bioinformatics Research Centre) ;
Schierup, Mikkel Heide (Aarhus University. Department of Bioscience) ;
Hvilsom, Christina (Copenhagen Zoo) ;
Andrés, A. M. (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Wall, J. D. (University of California San Francisco. Institute for Human Genetics) ;
Bustamante, Carlos D (Stanford University. Department of Genetics) ;
Hammer, M. F. (University of Arizona. Arizona Research Laboratories. Division of Biotechnology) ;
Eichler, Evan E (Howard Hughes Medical Institute) ;
Marques-Bonet, Tomas 1975- (Institució Catalana de Recerca i Estudis Avançats)
Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88. [...]
2013 - 10.1038/nature12228
Nature, Vol. 499, issue 7459 (July 2013) , p. 471-475
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12 p, 216.0 KB |
Systematic review : Third-line susceptibility-guided treatment for Helicobacter pylori infection
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Puig, Ignasi (Universitat Autònoma de Barcelona. Departament de Medicina) ;
López Góngora, Sheila (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Calvet Calvo, Xavier (Universitat Autònoma de Barcelona. Departament de Medicina.) ;
Villoria, Albert (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Baylina i Melé, Mireia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Sánchez-Delgado, Jordi (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Suarez, David (Instituto de Investigación Hospital Universitario de la Princesa) ;
García Hernando, Victor (Universitat Autònoma de Barcelona. Departament de Medicina) ;
P. Gisbert, Javier (Instituto de Investigación Hospital Universitario de la Princesa)
Background: Susceptibility-guided therapies (SGTs) have been proposed as preferable to empirical rescue treatments after two treatment failures. The aim of this study was to perform a systematic review and meta-analysis evaluating the effectiveness and efficacy of SGT as third-line therapy. [...]
2016 - 10.1177/1756283X15621229
Therapeutic Advances in Gastroenterology, Vol. 9, Núm. 4 (January 2016) , p. 437-448
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8 p, 913.9 KB |
How and when should NSAIDs be used for preventing post-ERCP pancreatitis? A systematic review and meta-analysis
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Puig, Ignasi (Althaia Xarxa Assistencial Universitària de Manresa) ;
Calvet Calvo, Xavier (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Baylina i Melé, Mireia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Isava, Álvaro (Universitat Internacional de Catalunya) ;
Sort, Pau (Althaia Xarxa Assistencial Universitària de Manresa) ;
Llaó, Jordina (Universitat Internacional de Catalunya) ;
Porta, Francesc (Universitat Internacional de Catalunya) ;
Vida, Francesc (Althaia Xarxa Assistencial Universitària de Manresa)
Background: Non-steroidal anti-inflammatory drugs (NSAIDs) have been shown to be efficacious to prevent pancreatitis after endoscopic retrograde cholangiopancreatography (ERCP). However, the target patients, the type of NSAID, the route of administration and the time of drug delivery remain unclear, as well as the potential efficacy in reducing the severity of pancreatitis, length of hospital stay and mortality. [...]
2014 - 10.1371/journal.pone.0092922
PloS one, Vol. 9 Num. 3 (March 2014) , p. e92922
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