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12 p, 2.5 MB |
Unraveling the effect of silent, intronic and missense mutations on VWF splicing : contribution of next generation sequencing in the study of mRNA
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Borràs, Nina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Orriols, Gerard (Institut d'Investigació Biomèdica Sant Pau) ;
Batlle, Javier (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Pérez-Rodríguez, Almudena (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Fidalgo, Teresa (Centro Hospitalar e Universitário de Coimbra, Portugal) ;
Martinho, Patricia (Centro Hospitalar e Universitário de Coimbra, Portugal) ;
López-Fernández, María Fernanda (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Rodríguez-Trillo, Ángela (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Lourés, Esther (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Parra, Rafael (Institut de Recerca Vall d'Hebron -Universitat Autònoma de Barcelona (VHIR-UAB), Spain) ;
Altisent, Carme (Institut de Recerca Vall d'Hebron -Universitat Autònoma de Barcelona (VHIR-UAB), Spain) ;
Cid, Ana Rosa (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Bonanad, Santiago (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Cabrera, Noelia (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Moret, Andrés (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Mingot-Castellano, María Eva (Hospital Regional Universitario de Málaga, Spain) ;
Navarro, Nira (Hospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain) ;
Pérez-Montes, Rocío (Hospital Universitario Marqués de Valdecilla, Santander, Spain) ;
Marcellin, Sally (Salud Castilla y León, Segovia, Spain) ;
Moreto, Ana (Hospital Universitario Cruces, Barakaldo, Spain) ;
Herrero, Sonia (Hospital Universitario de Guadalajara, Spain) ;
Soto, Inmaculada (Hospital Universitario Central de Asturias, Oviedo, Spain) ;
Fernández-Mosteirín, Núria (Hospital Universitario Miguel Servet, Zaragoza, Spain) ;
Jiménez-Yuste, Víctor (Hospital Universitario La Paz, Madrid, Spain) ;
Alonso, Nieves (Hospital Infanta Cristina, Badajoz, Spain) ;
de Andrés-Jacob, Aurora (Complexo Hospitalario Universitario Santiago de Compostela, Spain) ;
Fontanes, Emilia (Hospital Universitario Lucus Augusti, Lugo, Spain) ;
Campos, Rosa (Hospital Jerez de la Frontera, Cádiz, Spain) ;
Paloma, María José (Hospital Virgen del Camino, Pamplona, Spain) ;
Bermejo, Nuria (Hospital San Pedro de Alcántara, Cáceres, Spain) ;
Berrueco, Ruben (Hospital Sant Joan de Deu, Barcelona, Spain) ;
Mateo, José (Institut d'Investigació Biomèdica Sant Pau) ;
Arribalzaga, Karmele (Hospital Universitario Fundación de Alcorcón, Madrid, Spain) ;
Marco, Pascual (Hospital General de Alicante, Spain) ;
Palomo, Ángeles (Hospital Regional Universitario Carlos Haya, Málaga, Spain) ;
Quismondo, Nerea Castro (Hospital Universitario 12 de Octubre, Madrid, Spain) ;
Iñigo, Belén (Hospital Clínico San Carlos, Madrid, Spain) ;
Nieto, María del Mar (Complejo Hospitalario de Jaén, Spain) ;
Vidal, Rosa (Fundación Jiménez Díaz, Madrid, Spain) ;
Martínez, María Paz (Hospital Nuestra Sra. de Sonsoles de Ávila, Spain) ;
Aguinaco, Reyes (Hospital Joan XXIII, Tarragona, Spain) ;
Tenorio, Jesús María (Hospital Montecelo, Pontevedra, Spain) ;
Ferreiro, María (Hospital Montecelo, Pontevedra, Spain) ;
García-Frade, Javier (Hospital Río Hortega, Valladolid, Spain) ;
Rodríguez-Huerta, Ana María (Hospital Gregorio Marañón, Madrid, Spain) ;
Cuesta, Jorge (Hospital Virgen de la Salud, Toledo, Spain) ;
Rodríguez-González, Ramón (Hospital Severo Ochoa, Madrid, Spain) ;
García-Candel, Faustino (Hospital Universitario Virgen Arrixaca, Murcia, Spain) ;
Dobón, Manuela (Hospital Lozano Blesa, Zaragoza, Spain) ;
Aguilar, Carlos (Hospital Santa Bárbara, Soria, Spain) ;
Vidal, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Corrales, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. [...]
2019 -  10.3324/haematol.2018.203166
Haematologica, Vol. 104 (march 2019) , p. 587-598
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14 p, 251.1 KB |
Cancer-Associated Thrombosis : Beyond Clinical Practice Guidelines-A Multidisciplinary (SEMI-SEOM-SETH) Expert Consensus
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Pachón, Vanessa (Department of Oncology, Hospital Universitario Ramón y Cajal, Madrid, Spain) ;
Trujillo-Santos, Javier (Department of Internal Medicine, Hospital Universitario Santa Lucía, Cartagena, Spain) ;
Domènech, Pere (Thrombosis and Haemostasis Unit, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Catalonia, Spain) ;
Gallardo, Enrique (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Font, Carmen (Department of Medical Oncology, Hospital Clinic, Barcelona, Spain) ;
González-Porras, José Ramón (Hematology Service, Hospital Universitario de Salamanca-IBSAL, Salamanca, Spain) ;
Pérez-Segura, Pedro (Department of Oncology, Hospital Clínico San Carlos, Madrid, Spain) ;
Maestre, Ana (Department of Internal Medicine, Hospital del Vinalopó, Elche, Spain) ;
Mateo, José (Institut d'Investigació Biomèdica Sant Pau) ;
Muñoz, Andrés (Department of Oncology, Hospital Universitario Gregorio Marañón, Madrid, Spain) ;
Peris, María Luisa (Department of Internal Medicine, Hospital Provincial de Castellón, Castellón, Spain) ;
Lecumberri, Ramón (Hematology Service, Clínica Universidad de Navarra, IDISNA, CIBER-CV, Pamplona, Spain) ;
Universitat Autònoma de Barcelona
Despite the growing interest and improved knowledge about venous thromboembolism in cancer patients in the last years, there are still many unsolved issues. Due to the limitations of the available literature, evidence-based clinical practice guidelines are not able to give solid recommendations for challenging scenarios often present in the setting of cancer-associated thrombosis (CAT). [...]
2018 - 10.1055/s-0038-1675577
TH Open: Companion Journal to Thrombosis and Haemostasis, Vol. 2 (november 2018) , p. e373-e386
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10 p, 828.8 KB |
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES) : comprehensive genetic analysis by next-generation sequencing of 480 patients
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Borràs, Nina (Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Spain) ;
Batlle, Javier (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Pérez-Rodríguez, Almudena (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
López-Fernández, María Fernanda (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Rodríguez-Trillo, Ángela (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Lourés, Esther (Complexo Hospitalario Universitario A Coruña, INIBIC, Spain) ;
Cid, Ana Rosa (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Bonanad, Santiago (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Cabrera, Noelia (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Moret, Andrés (Hospital Universitario y Politécnico La Fe, Valencia, Spain) ;
Parra, Rafael (Hospital Universitari Vall d'Hebron, Barcelona, Spain) ;
Mingot-Castellano, María Eva (Hospital Regional Universitario de Málaga, Spain) ;
Balda, Ignacia (Hospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain) ;
Altisent, Carme (Hospital Universitari Vall d'Hebron, Barcelona, Spain) ;
Pérez-Montes, Rocío (Hospital Universitario Marqués de Valdecilla, Santander, Spain) ;
Fisac, Rosa María (Salud Castilla y León, Segovia, Spain) ;
Iruín, Gemma (Hospital Universitario Cruces, Barakaldo, Spain) ;
Herrero, Sonia (Hospital Universitario de Guadalajara, Spain) ;
Soto, Inmaculada (Hospital Universitario Central de Asturias, Oviedo, Spain) ;
de Rueda, Beatriz (Hospital Universitario Miguel Servet, Zaragoza, Spain) ;
Jiménez-Yuste, Víctor (Hospital Universitario La Paz, Madrid, Spain) ;
Alonso, Nieves (Hospital Infanta Cristina, Badajoz, Spain) ;
Vilariño, Dolores (Complejo Hospitalario Universitario Santiago de Compostela, Spain) ;
Arija, Olga (Hospital Universitario Lucus Augusti, Lugo, Spain) ;
Campos, Rosa (Hospital Jerez de la Frontera, Cádiz, Spain) ;
Paloma, María José (Hospital Virgen del Camino, Pamplona, Spain) ;
Bermejo, Nuria (Hospital San Pedro de Alcántara, Cáceres, Spain) ;
Berrueco, Rubén (Hospital Sant Joan de Deu, Barcelona, Spain) ;
Mateo, José (Institut d'Investigació Biomèdica Sant Pau) ;
Arribalzaga, Karmele (Hospital Universitario Fundación de Alcorcón, Madrid, Spain) ;
Marco, Pascual (Hospital General de Alicante, Spain) ;
Palomo, Ángeles (Hospital Regional Universitario de Málaga, Spain) ;
Sarmiento, Lizheidy (Hospital Universitario 12 de Octubre, Madrid, Spain) ;
Iñigo, Belén (Hospital Clínico San Carlos, Madrid, Spain) ;
Nieto, María del Mar (Complejo Hospitalario de Jaén, Spain) ;
Vidal, Rosa (Fundación Jiménez Díaz, Madrid, Spain) ;
Martínez, María Paz (Hospital Nuestra Señora de Sonsoles, Ávila, Spain) ;
Aguinaco, Reyes (Hospital Universitario de Tarragona Joan XXIII, Spain) ;
César, Jesús María (Hospital Ramón y Cajal, Madrid, Spain) ;
Ferreiro, María (Hospital Montecelo, Pontevedra, Spain) ;
García-Frade, Javier (Hospital del Río Hortega, Valladolid, Spain) ;
Rodríguez-Huerta, Ana María (Hospital Gregorio Marañón, Madrid, Spain) ;
Cuesta, Jorge (Hospital Virgen de la Salud, Toledo, Spain) ;
Rodríguez-González, Ramón (Hospital Severo Ochoa, Madrid, Spain) ;
García-Candel, Faustino (Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain) ;
Cornudella, Rosa (Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain) ;
Aguilar, Carlos (Hospital Santa Bárbara, Soria, Spain) ;
Vidal, Francisco (CIBER de Enfermedades Cardiovasculares, Spain) ;
Corrales, Irene (Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Spain) ;
Universitat Autònoma de Barcelona
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. [...]
2017 - 10.3324/haematol.2017.168765
Haematologica, Vol. 102 (december 2017) , p. 2005-2014
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22 p, 593.4 KB |
Are forest disturbances amplifying or canceling out climate change-induced productivity changes in European forests?
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Reyer, Christopher P O (Potsdam-Institut für Klimafolgenforschung) ;
Bathgate, Stephen (Northern Research Station. Forest Research) ;
Blennow, Kristina (Sveriges lantbruksuniversitet) ;
Borges, Jose G (Universidade de Lisboa. Centro de Estudos Florestais) ;
Bugmann, Harald (Eidgenössische Technische Hochschule Zürich) ;
Delzon, Sylvain (Institut national de la recherche agronomique. BIOGECO) ;
Faias, Sonia P (Universidade de Lisboa. Centro de Estudos Florestais) ;
Garcia-Gonzalo, Jordi (Centre de Ciència i Tecnologia Forestal de Catalunya) ;
Gardiner, Barry (Northern Research Station. Forest Research) ;
Gonzalez-Olabarria, Jose Ramon (Centre de Ciència i Tecnologia Forestal de Catalunya) ;
Gracia, Carlos (Centre de Recerca Ecològica i d'Aplicacions Forestals) ;
Hernández, Juan Guerra (Universidade de Lisboa. Centro de Estudos Florestais) ;
Kellomäki, Seppo (University of Eastern Finland. School of Forest Sciences) ;
Kramer, Koen (Wageningen University and Research Centre) ;
Lexer, Manfred J (Universität für Bodenkultur Wien) ;
Lindner, Marcus (Yliopistokatu. European Forest Institute) ;
van der Maaten, Ernst (Universität Greifswald) ;
Maroschek, Michael (Universität für Bodenkultur Wien) ;
Muys, Bart (European Forest Institute) ;
Nicoll, Bruce (Northern Research Station. Forest Research) ;
Palahi, Marc (Yliopistokatu. European Forest Institute) ;
Palma, João HN (Universidade de Lisboa. Centro de Estudos Florestais) ;
Paulo, Joana A (Universidade de Lisboa. Centro de Estudos Florestais) ;
Peltola, Heli (University of Eastern Finland. School of Forest Sciences) ;
Pukkala, Timo (University of Eastern Finland. School of Forest Sciences) ;
Rammer, Werner (Universität für Bodenkultur Wien) ;
Ray, Duncan (Northern Research Station. Forest Research) ;
Sabaté i Jorba, Santi (Centre de Recerca Ecològica i d'Aplicacions Forestals) ;
Schelhaas, Mart-Jan (Wageningen University and Research Centre) ;
Seidl, Rupert (Universität für Bodenkultur Wien) ;
Temperli, Christian (Eidgenössische Technische Hochschule Zürich) ;
Tomé, Margarida (Universidade de Lisboa. Centro de Estudos Florestais) ;
Yousefpour, Rasoul (Albert-Ludwigs-Universität Freiburg) ;
Zimmermann, Niklaus E (Eidgenössische Technische Hochschule Zürich) ;
Hanewinkel, Marc (Albert-Ludwigs-Universität Freiburg)
Recent studies projecting future climate change impacts on forests mainly consider either the effects of climate change on productivity or on disturbances. However, productivity and disturbances are intrinsically linked because 1) disturbances directly affect forest productivity (e. [...]
2017 - 10.1088/1748-9326/aa5ef1
Environmental research letters, Vol. 12 (March 2017) , art. 034027
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13 p, 1.5 MB |
Use of chemostat cultures mimicking different phases of wine fermentations as a tool for quantitative physiological analysis
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Vázquez Lima, Felícitas (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Silva, Paulina (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Barreiro Vázquez, Antonio (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Martínez Moreno, Rubén (Universidad de La Rioja. Instituto de Ciencias de la Vid y del Vino) ;
Morales, Pilar (Universidad de La Rioja. Instituto de Ciencias de la Vid y del Vino) ;
Quirós, Manuel (Universidad de La Rioja. Instituto de Ciencias de la Vid y del Vino) ;
González, Ramón (Universidad de La Rioja. Instituto de Ciencias de la Vid y del Vino) ;
Albiol i Sala, Joan (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Ferrer i Alegre, Pau (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química)
Saccharomyces cerevisiae is the most relevant yeast species conducting the alcoholic fermentation that takes place during winemaking. Although the physiology of this model organism has been extensively studied, systematic quantitative physiology studies of this yeast under winemaking conditions are still scarce, thus limiting the understanding of fermentative metabolism of wine yeast strains and the systematic description, modelling and prediction of fermentation processes. [...]
2014 - 10.1186/1475-2859-13-85
Microbial cell factories, Vol. 13 (June 2014) , art. 85
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10 p, 356.7 KB |
Low Insulin-Like Growth Factor-1 Level in Obesity Nephropathy: A New Risk Factor?
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Bancu, Ioana (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Navarro Díaz, Maruja (REDinREN (Madrid)) ;
Serra, Assumpta (REDinREN (Madrid)) ;
Granada, Marisa (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
López, Dolores (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Romero González, Ramón (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Bonet, Josep (REDinREN (Madrid))
INTRODUCTION: IGF-1 (insulin-like growth factor-1) is a hormone involved in cell growth and other important processes. In the kidney, IGF-1 has a stimulating effect, increasing the blood flow and glomerular filtration rate. [...]
2016 - 10.1371/journal.pone.0154451
PloS one, Vol. 11 Núm. 5 (May 2016)
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14 p, 1.5 MB |
Metabolic Flux Analysis during the Exponential Growth Phase of Saccharomyces cerevisiae in Wine Fermentations
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Quirós, Manuel (Instituto de Ciencias de la Vid y del Vino) ;
Martínez Moreno, Rubén (Instituto de Ciencias de la Vid y del Vino) ;
Albiol i Sala, Joan (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental) ;
Morales, Pilar (Instituto de Ciencias de la Vid y del Vino) ;
Vázquez Lima, Felícitas (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Barreiro Vázquez, Antonio (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Ferrer, Pau (Universitat Autònoma de Barcelona. Departament d'Enginyeria Química) ;
Gonzalez, Ramon (Instituto de Ciencias de la Vid y del Vino)
As a consequence of the increase in global average temperature, grapes with the adequate phenolic and aromatic maturity tend to be overripe by the time of harvest, resulting in increased sugar concentrations and imbalanced C/N ratios in fermenting musts. [...]
2013 - 10.1371/journal.pone.0071909
PloS one, Vol. 8 Issue 8 (August 2013) , p. e71909
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