1.
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13 p, 2.2 MB |
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR
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Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Lerga Jaso, Jon (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Giner Delgado, Carla (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Delprat Obeaga, Alejandra (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Gayà Vidal, Magdalena (University of Porto. CIBIO/InBIO Research Center in Biodiversity and Genetic Resources (Portugal)) ;
Regan, Jack F. (Digital Biology Center. Bio-Rad Laboratories (USA)) ;
Karlin Neumann, George (Digital Biology Center. Bio-Rad Laboratories (USA)) ;
Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Despite the interest in characterizing genomic variation, the presence of large repeats at the breakpoints hinders the analysis of many structural variants. This is especially problematic for inversions, since there is typically no gain or loss of DNA. [...]
2020 - 10.1101/gr.255273.119
Genome research, Vol. 30, Issue 5 (May 2020) , p. 724-735
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2.
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15 p, 2.2 MB |
The multi-site PeachRefPop collection: a true cultural heritage and international scientific tool for fruit trees
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Cirilli, Marco (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali (Italy)) ;
Micali, Sabrina (Research Centre for Olive, Fruit, and Citrus Crops (Italy)) ;
Aranzana Civit, Mª José (Centre de Recerca en Agrigenòmica) ;
Arús i Gorina, Pere (Centre de Recerca en Agrigenòmica) ;
Babini, Annarosa (Phytosanitary Service (Italy)) ;
Barreneche, Teresa (Université de Bordeaux. Institut National de la Recherche Agronomique (France)) ;
Bink, Marco (Hendrix Genetics Research, Technology & Services (The Netherlands)) ;
Cantin, Celia M (Centre de Recerca en Agrigenòmica) ;
Ciacciulli, Angelo (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali (Italy)) ;
Cos-Terrer, José Enrique (Instituto Murciano de Investigación y Desarrollo Agrario y Alimentario) ;
Drogoudi, Pavlina (Institute of Plant Breeding and Genetic Resources. Hellenic Agricultural Organization "Demeter". Department of Deciduous Fruit Trees (Greece)) ;
Eduardo Muñoz, Iban (Centre de Recerca en Agrigenòmica) ;
Foschi, Stefano (Centro Ricerche Produzioni Vegetali (Italy)) ;
Giovannini, Daniela (Research Centre for Olive, Fruit, and Citrus Crops (Italy)) ;
Guerra, Walter (Research Centre Laimburg (Italy)) ;
Liverani, Alessandro (Research Centre for Olive, Fruit, and Citrus Crops (Italy)) ;
Pacheco, Igor (Universidad de Chile. Instituto de Nutrición y Tecnología de los Alimentos (Chile)) ;
Pascal, Thierry (Institut National de la Recherche Agronomique. Génétique et Amélioration des Fruits et Légumes (France)) ;
Quilot-Turion, Bénédicte (Institut national de la recherche agronomique (França). Génétique et Amélioration des Fruits et Légumes) ;
Verde, Ignazio (Research Centre for Olive, Fruit, and Citrus Crops (Italy)) ;
Rossini, Laura (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali (Italy)) ;
Bassi, Daniele (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali (Italy))
Plants have evolved a range of adaptive mechanisms that adjust their development and physiology to variable external conditions, particularly in perennial species subjected to long-term interplay with the environment. [...]
2020 - 10.1104/pp.19.01412
Plant Physiology, Vol. 184 (October 2020) , p. 632-646
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3.
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14 p, 6.4 MB |
ATR is required to complete meiotic recombination in mice
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Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Maldonado Linares, Andros (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Marcet-Ortega, Marina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Rojas, Cristina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Martínez Marchal, Ana (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Fuentes-Lazaro, Judit (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Lange, Julian (Memorial Sloan Kettering Cancer Center) ;
Jasin, Maria (Memorial Sloan Kettering Cancer Center) ;
Keeney, Scott (Memorial Sloan Kettering Cancer Center) ;
Fernández-Capetillo, Oscar (Centro Nacional de Investigaciones Oncológicas.) ;
Garcia-Caldés, Montserrat (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Roig, I. (Ignasi) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Precise execution of recombination during meiosis is essential for forming chromosomally-balanced gametes. Meiotic recombination initiates with the formation and resection of DNA double-strand breaks (DSBs). [...]
2018 - 10.1038/s41467-018-04851-z
Nature communications, Vol. 9 (2018) , art. 2622
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4.
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12 p, 7.0 MB |
ATR is a multifunctional regulator of male mouse meiosis
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Widger, Alexander (The Francis Crick Institute) ;
Mahadevaiah, Shantha K. (Francis Crick Institute) ;
Lange, Julian (Memorial Sloan Kettering Cancer Center) ;
Elinati, Elias (The Francis Crick Institute) ;
Zohren, Jasmin (The Francis Crick Institute) ;
Hirota, Takayuki (The Francis Crick Institute) ;
Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Maldonado Linares, Andros (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Stanzione, Marcello (TU Dresden. Faculty of Medicine) ;
Ojarikre, Obah (The Francis Crick Institute) ;
Maciulyte, Valdone (The Francis Crick Institute) ;
De Rooij, Dirk G. (University of Amsterdam. Center for Reproductive Medicine) ;
Tóth, Attila (TU Dresden. Faculty of Medicine) ;
Roig, I. (Ignasi) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Keeney, Scott (Memorial Sloan Kettering Cancer Center) ;
Turner, James M.A. (Francis Crick Institute)
Meiotic cells undergo genetic exchange between homologs through programmed DNA double-strand break (DSB) formation, recombination and synapsis. In mice, the DNA damage-regulated phosphatidylinositol-3-kinase-like kinase (PIKK) ATM regulates all of these processes. [...]
2018 - 10.1038/s41467-018-04850-0
Nature communications, Vol. 9 (2018) , art. 2621
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5.
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24 p, 25.7 MB |
p53 and TAp63 participate in the recombination-dependent pachytene arrest in mouse spermatocytes
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Marcet-Ortega, Marina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Martínez Marchal, Ana (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Castillo, Helena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Flores, Elsa (The University of Texas M. D. Anderson Cancer Center) ;
Jasin, Maria (Memorial Sloan Kettering Cancer Center) ;
Keeney, Scott (Memorial Sloan Kettering Cancer Center) ;
Roig, I. (Ignasi) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
To protect germ cells from genomic instability, surveillance mechanisms ensure meiosis occurs properly. In mammals, spermatocytes that display recombination defects experience a so-called recombination-dependent arrest at the pachytene stage, which relies on the MRE11 complex-ATM-CHK2 pathway responding to unrepaired DNA double-strand breaks (DSBs). [...]
2017 - 10.1371/journal.pgen.1006845
PLoS Genetics, Vol. 13, issue 6 (2017) , art. e1006845
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6.
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27 p, 21.8 MB |
The ATM signaling cascade promotes recombination-dependent pachytene arrest in mouse spermatocytes
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Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Marcet-Ortega, Marina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Lange, Julian (Memorial Sloan Kettering Cancer Center) ;
Jasin, Maria (Memorial Sloan Kettering Cancer Center) ;
Keeney, Scott (Memorial Sloan Kettering Cancer Center) ;
Roig, I. (Ignasi) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Most mutations that compromise meiotic recombination or synapsis in mouse spermatocytes result in arrest and apoptosis at the pachytene stage of the first meiotic prophase. Two main mechanisms are thought to trigger arrest: one independent of the double-strand breaks (DSBs) that initiate meiotic recombination, and another activated by persistent recombination intermediates. [...]
2015 - 10.1371/journal.pgen.1005017
PLoS Genetics, Vol. 11, issue 3 (2015) , art. e1005017
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7.
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10 p, 1.7 MB |
IL-7/IL-7R gene variants impact circulating IL-7/IL-7R homeostasis and ART-associated immune recovery status
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Ceausu, A. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Rodríguez-Gallego, E. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Peraire, J. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
López-Dupla, M. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Domingo, P. (Institut d'Investigació Biomèdica Sant Pau) ;
Viladés, C. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Vidal-Gonzalez, J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Perpiñán, C. (Current address: Atenció Primària ICS. Cap Sant Pere) ;
Pacheco, Y.M. (Laboratory of Immunology. Institute of Biomedicine of Seville. IBiS. UGC Clinical Laboratories. Virgen del Rocío University Hospital/CSIC/University of Seville) ;
Veloso, S. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Alba, V. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Vargas, M. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Castellano, A.J. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Ruiz-Mateos, E. (Clinic Unit of Infectious Diseases. Microbiology and Preventive Medicine. Institute of Biomedicine of Seville. Virgen del Rocío University Hospital/CSIC/University of Seville) ;
Mallolas, J. (HIV Unit. Infectious Diseases Service. Hospital Clinic. Universitat de Barcelona) ;
Vidal, F. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Rull, A. (Hospital Universitari de Tarragona Joan XXIII. IISPV. Universitat Rovira i Virgili) ;
Universitat Autònoma de Barcelona
A relationship between polymorphisms in genes encoding interleukin 7 (IL-7) and its cellular receptor (IL-7R) and antiretroviral therapy (ART)-associated immune recovery in HIV subjects has been previously reported. [...]
2019 - 10.1038/s41598-019-52025-8
Scientific reports (Nature Publishing Group), Vol. 9 Núm. 1 (january 2019) , p. 15722
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8.
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19 p, 6.6 MB |
Evolutionary history, genomic adaptation to toxic diet, and extinction of the Carolina Parakeet
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Gelabert, Pere (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ;
Sandoval Velasco, Marcela (University of Copenhagen. The GLOBE Institute) ;
Serres, Aitor (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ;
de Manuel, Marc (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ;
Renom, Pere (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ;
Margaryan, Ashot (University of Copenhagen. The GLOBE Institute) ;
Stiller, Josefin (University of Copenhagen. Department of Biology) ;
de Dios, Toni (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ;
Fang, Qi (BGI-Shenzhen (China)) ;
Feng, Shaohong (BGI-Shenzhen (China)) ;
Mañosa, Santi (Universitat de Barcelona. Institut de Recerca de la Biodiversitat. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ;
Pacheco, George (University of Copenhagen. The GLOBE Institute) ;
Ferrando Bernal, Manuel (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ;
Shi, Guolin (Northwestern Polytechnical University. Center of Special Environmental Biomechanics & Biomedical Engineering) ;
Hao, Fei (Northwestern Polytechnical University. Center of Special Environmental Biomechanics & Biomedical Engineering) ;
Chen, Xianqing (Northwestern Polytechnical University. Center for Ecological and Environmental Sciences) ;
Petersen, Bent (AIMST University. Centre of Excellence for Omics-Driven Computational Biodiscovery (Malaysia)) ;
Olsen, Remi-André (Stockholm University. Department of Biochemistry and Biophysics) ;
Navarro, A (Institució Catalana de Recerca i Estudis Avançats) ;
Deng, Yuan (BGI-Shenzhen (China)) ;
Dalén, Love (Swedish Museum of Natural History. Department of Bioinformatics and Genetics) ;
Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Zhang, Guojie (Chinese Academy of Sciences. Center for Excellence in Animal Evolution and Genetics) ;
Antunes, Agostinho (University of Porto. Department of Biology) ;
Gilbert, M.Thomas P. (NTNU University Museum (Norway)) ;
Lalueza-Fox, Carles (Universitat Pompeu Fabra. Institut de Biologia Evolutiva)
As the only endemic neotropical parrot to have recently lived in the northern hemisphere, the Carolina parakeet (Conuropsis carolinensis) was an iconic North American bird. The last surviving specimen died in the Cincinnati Zoo in 1918 [1]. [...]
2020 - 10.1016/j.cub.2019.10.066
Current biology, Vol. 30, Issue 1 (January 2020) , p. 108-114
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9.
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15 p, 1.3 MB |
Genome-enabled predictions for fruit weight and quality from repeated records in European peach progenies
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Biscarini, Filippo (Parco Tecnologico Padano) ;
Nazzicari, Nelson (Parco Tecnologico Padano) ;
Bink, Marco (Wageningen University and Research. Biometris) ;
Arús i Gorina, Pere (Centre de Recerca en Agrigenòmica) ;
Aranzana Civit, Mª José (Centre de Recerca en Agrigenòmica) ;
Verde, Ignazio (Centro di Ricerca per la Frutticoltura) ;
Micali, Sabrina (Centro di Ricerca per la Frutticoltura) ;
Pascal, Thierry (Institut national de la recherche agronomique (França). Génétique et Amélioration des Fruits et Légumes) ;
Quilot-Turion, Bénédicte (Institut national de la recherche agronomique (França). Génétique et Amélioration des Fruits et Légumes) ;
Lambert, Patrick (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali) ;
Silva Linge, Cassia da (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali) ;
Pacheco, Igor (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali) ;
Bassi, Daniele (Università degli Studi di Milano. Dipartimento di Scienze Agrarie e Ambientali) ;
Stella, Alessandra (Parco Tecnologico Padano) ;
Rossini, Laura (Parco Tecnologico Padano)
Background: Highly polygenic traits such as fruit weight, sugar content and acidity strongly influence the agroeconomic value of peach varieties. Genomic Selection (GS) can accelerate peach yield and quality gain if predictions show higher levels of accuracy compared to phenotypic selection. [...]
2017 - 10.1186/s12864-017-3781-8
BMC genomics, Vol. 18 (2017) , art. 432
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10.
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7 p, 1.1 MB |
Bladder cancer index : Cross-cultural adaptation into Spanish and psychometric evaluation
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Schmidt, Stefanie (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Riel, Ricard (Centre d'Atenció Primària El Clot, Barcelona) ;
Frances, Albert (Hospital del Mar) ;
Lorente Garín, José Antonio (Hospital del Mar) ;
Bonfill Cosp, Xavier (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública) ;
Martinez Zapata, María José (Institut d'Investigació Biomèdica Sant Pau) ;
Suárez Varela, María Morales (Universitat de València. Departament de Medicina Preventiva) ;
de la Cruz, Javier (Hospital 12 de Octubre) ;
Emparanza, José Ignacio (Hospital Universitario Donostia) ;
Sánchez, María José (Instituto de Investigación Biosanitaria de Granada) ;
Zamora, Javier (Hospital Ramón y Cajal) ;
Ramos Goñi, Juan M. (Servicio de Evaluación del Servicio Canario de la Salud) ;
Alonso, J. (CIBER Epidemiología y Salud Pública) ;
Ferrer, Montserrat (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Becerra, V. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Pardo, Yolanda (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Fores, M. F. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Garin, O. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Villagran, C.O. (Universitat Autònoma de Barcelona.Institut Universitari Avedis Donabedian) ;
Suñol, R. (Universitat Autònoma de Barcelona.Institut Universitari Avedis Donabedian) ;
Osorio, D. (Institut d'Investigació Biomèdica Sant Pau) ;
Cosp, X. B. (Institut d'Investigació Biomèdica Sant Pau) ;
Canovas, E. (Institut d'Investigació Biomèdica Sant Pau) ;
Pardo, G. S. (Institut d'Investigació Biomèdica Sant Pau) ;
Bolívar, I. (Institut d'Investigació Biomèdica Sant Pau) ;
Bachs, J. (Institut d'Investigació Biomèdica Sant Pau) ;
Maroto, J.P. (Institut d'Investigació Biomèdica Sant Pau) ;
Quintana, M. J. (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez Zapata, M.J. (Institut d'Investigació Biomèdica Sant Pau) ;
Lorente, C. M. (Institut d'Investigació Biomèdica Sant Pau) ;
Algaba, Ferran (Centro Cochrane Iberoamericano) ;
Redorta, P. (Centro Cochrane Iberoamericano) ;
Esquena, Salvador. (Centro Cochrane Iberoamericano) ;
Puigvert, F. (Centro Cochrane Iberoamericano) ;
Vernooij, R. (Centro Cochrane Iberoamericano) ;
Martínez, A. (Hospital de Cruces) ;
Pijoan Zubizarreta, J.I. (Hospital de Cruces) ;
Martínez, L. (CAIBER Cruces) ;
Castro Diaz, D.M. (Servicio Canario de la Salud) ;
Bastida, J.L. (Servicio Canario de la Salud) ;
Pacheco, A.S. (Hospital Universitario Virgen de las Nieves) ;
López, C.G. (Hospital Universitario Virgen de las Nieves) ;
Cozar Olmo, J.M. (Hospital Universitario Virgen de las Nieves) ;
Martínez, C. (Escuela Andaluza de Salud Pública) ;
Chan, D. C. (Escuela Andaluza de Salud Pública) ;
Sanchez Perez, M. J. (Escuela Andaluza de Salud Pública) ;
Díaz Moratinos, A. I. (Hospital Ramón y Cajal) ;
Luis, A. M. (Hospital Ramón y Cajal) ;
Hervás, A. (Hospital Ramón y Cajal) ;
Ocaña, C. V. (Hospital Ramón y Cajal) ;
Varona, C. (Hospital Ramón y Cajal) ;
Burgos, Javier (Hospital Ramón y Cajal) ;
Polo Rubio, J. A. (Hospital Ramón y Cajal) ;
López-Fando Lavalle, L. (Hospital Ramón y Cajal) ;
Jimenez Cidre, M. A. (Hospital Ramón y Cajal) ;
Garcia, A. M. (Hospital Ramón y Cajal) ;
Farras, N. P. (Hospital Ramón y Cajal) ;
Lopez, R. M. (Hospital Ramón y Cajal) ;
Garcia, S. S. (Hospital Ramón y Cajal) ;
Abraira, Víctor (Hospital Ramón y Cajal) ;
Dos Santos, V.G. (Hospital Ramón y Cajal) ;
De la Cámara, A.G. (Hospital 12 de Octubre) ;
De la Cruz, J. (Hospital 12 de Octubre) ;
Martinez, J. P. (Hospital 12 de Octubre) ;
Muñoz, H. G. (Hospital 12 de Octubre) ;
Cabeza Rodríguez, M. A. (Hospital 12 de Octubre) ;
Díaz, I. R. (Hospital Universitario Donostia) ;
Sanz Jaka, J. P. (Hospital Universitario Donostia) ;
Velásquez, M. J. (Hospital Universitario Donostia) ;
González, A .L. (Universidad de Valencia) ;
Morales, M. (Universidad de Valencia) ;
Camps, C. (Consorcio Hospital General Universitario de Valencia) ;
Díaz, C. C. (Consorcio Hospital General Universitario de Valencia) ;
Vidal, E. M. (Consorcio Hospital General Universitario de Valencia) ;
Ballester, F. S. (Consorcio Hospital General Universitario de Valencia) ;
Juan Escudero, J. U. (Consorcio Hospital General Universitario de Valencia) ;
Peidro, J.P. (Consorcio Hospital General Universitario de Valencia) ;
Torrecilla, J. L. (Consorcio Hospital General Universitario de Valencia) ;
Ramos Campos, M. M. (Consorcio Hospital General Universitario de Valencia) ;
Cebollada, M.M. (Consorcio Hospital General Universitario de Valencia) ;
Universitat Autònoma de Barcelona
Background: The Bladder Cancer Index (BCI) is so far the only instrument applicable across all bladder cancer patients, independent of tumor infiltration or treatment applied. We developed a Spanish version of the BCI, and assessed its acceptability and metric properties. [...]
2014 - 10.1186/1477-7525-12-20
Health and quality of life outcomes, Vol. 12, Núm. 1 (february 2014) , art. 20
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