Página principal > Artículos > Resultados de la búsqueda: Variant

Artículos

  Consejos para la búsqueda
Búsqueda avanzada
Buscar colecciones:
Ordenar por: Mostrar resultados: Formato de visualización:
Artículos Encontrados 30 registros  inicioanterior21 - 30  ir al registro: La búsqueda tardó 0.01 segundos. 
21.
6 p, 75.7 KB L'escriptor contra l'escriptor o la literatura com a variant / Martínez-Gil, Víctor (Universitat Autònoma de Barcelona. Departament de Filologia Catalana)
L'article tracta de les diferents opcions que té l'escriptor a l'hora d'enfrontar-se amb les seves obres antigues: rebutjar-les, refer-les o acceptar-les amb la possibilitat de matisar-ne el sentit amb obres posteriors.
The article looks at the various options open to a writer in respect of his earlier works: to reject them, to rewrite them, or to accept them, even if it means amending them through their later work.
2013
Els Marges, Núm. 100 (2013) , p. 110-115  
Registro completo -
22.
10 p, 559.2 KB Genetic etiology for alcohol-induced cardiac toxicity / Ware, James S. (Imperial College London. National Heart and Lung Institute) ; Amor-Salamanca, Almudena (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Tayal, Upasana (Imperial College London. National Heart and Lung Institute) ; Govind, Risha (Imperial College London. National Heart and Lung Institute) ; Serrano, Isabel (Hospital Universitari Joan XXIII de Tarragona) ; Salazar-Mendiguchía, Joel (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; García-Pinilla, José Manuel (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Pascual-Figal, Domingo A. (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Núñez, Julio (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ; Guzzo-Merello, Gonzalo (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; González-Vioque, Emiliano (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Bardají, Alfredo (Hospital Universitari Joan XXIII de Tarragona) ; Manito, Nicolas (Hospital Universitari de Bellvitge) ; López-Garrido, Miguel A. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Padron-Barthe, Laura (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Edwards, Elizabeth (Imperial College London. National Heart and Lung Institute) ; Whiffin, Nicola (Imperial College London. National Heart and Lung Institute) ; Walsh, Roddy (Imperial College London. National Heart and Lung Institute) ; Buchan, Rachel J. (Imperial College London. National Heart and Lung Institute) ; Midwinter, William (Imperial College London. National Heart and Lung Institute) ; Wilk, Alicja (Imperial College London. National Heart and Lung Institute) ; Prasad, Sanjay (Imperial College London. National Heart and Lung Institute) ; Pantazis, Antonis (Royal Brompton and Harefield. Cardiovascular Research Centre) ; Baski, John (Royal Brompton and Harefield. Cardiovascular Research Centre) ; O'Regan, Declan P. (Imperial College London. MRC London Institute of Medical Sciences) ; Alonso-Pulpón, Luis (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Cook, Stuart A. (Imperial College London. National Heart and Lung Institute) ; Lara-Pezzi, Enrique (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ; Barton, Paul J. (Imperial College London. National Heart and Lung Institute) ; García-Pavía, Pablo (Universidad Francisco de Vitoria)
Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. [...]
2018 - 10.1016/j.jacc.2018.03.462
Journal of the American College of Cardiology, Vol. 71, issue 20 (May 2018) , p. 2293-2302  
Registro completo - Creative Commons
23.
7 p, 339.5 KB Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency : a new approach / Belmonte, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Barrecheguren, Miriam (Hospital Universitari Vall d'Hebron) ; López-Martínez, Rosa M. (Hospital Universitari Vall d'Hebron) ; Esquinas, Cristina (Hospital Universitari Vall d'Hebron) ; Rodríguez González, Esther (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Miravitlles, Marc (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Rodríguez Frías, Francisco (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Universitat Autònoma de Barcelona
Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. [...]
2016 - 10.2147/COPD.S115940
International journal of COPD, Vol. 11, Num. 1 (October 2016) , p. 2535-2541  
Registro completo - Creative Commons
24.
9 p, 1.2 MB From Wet-Lab to Variations : Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing / Laurie, Steve (Centre de Regulació Genòmica) ; Fernández, Marcos (Centre de Regulació Genòmica) ; Marco-Sola, Santiago (Universitat Pompeu Fabra) ; Trotta, Jean-Rémi (Universitat Pompeu Fabra) ; Camps, Jordi (Centre de Regulació Genòmica) ; Chacón, Alejandro (Universitat Autònoma de Barcelona) ; Espinosa, Antonio (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ; Gut, Marta (Centre de Regulació Genòmica) ; Gut, Ivo (Universitat Pompeu Fabra) ; Heath, Simon (Universitat Pompeu Fabra) ; Beltran i Agulló, Sergi (Centre de Regulació Genòmica)
As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost-performance ratio is not advancing at an equivalent rate. [...]
2016 - 10.1002/humu.23114
Human mutation, Vol. 37, Issue 12 (December 2016) , p. 1263-1271  
Registro completo - Creative Commons
25.
6 p, 225.1 KB Prognostic role of the LCS6 KRAS variant in locally advanced rectal cancer : results of the EXPERT-C trial / Sclafani, Francesco (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Chau, Ian (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Cunningham, David (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Peckitt, C. (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Lampis, Andrea (The Institute of Cancer Research. Division of Molecular Pathology (UK)) ; Hahne, Jens Claus (The Institute of Cancer Research. Division of Molecular Pathology (UK)) ; Braconi, Chiara (The Institute of Cancer Research. Division of Cancer Therapeutics (UK)) ; Tabernero, Josep (Hospital Universitari Vall d'Hebron) ; Glimelius, B. (University of Uppsala. Department of Immunology, Genetics and Pathology (Sweden)) ; Cervantes, Andrés (Universitat de València. Departament d'Hematologia i Oncologia Mèdica) ; Begum, Ruwaida (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; González De Castro, David (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Hulkki Wilson, Sanna (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Eltahir, Zakaria (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Wotherspoon, Andrew (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Tait, D. (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Brown, Gina (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Oates, J. (The Royal Marsden NHS Foundation Trust. Department of Medicine (UK)) ; Valeri, Nicola (The Institute of Cancer Research. Division of Molecular Pathology (UK)) ; Universitat Autònoma de Barcelona
Lethal-7 (let-7) is a tumour suppressor miRNA which acts by down-regulating several oncogenes including KRAS. A single-nucleotide polymorphism (rs61764370, T > G base substitution) in the let-7 complementary site 6 (LCS-6) of KRAS mRNA has been shown to predict prognosis in early-stage colorectal cancer (CRC) and benefit from anti-epidermal growth factor receptor monoclonal antibodies in metastatic CRC. [...]
2015 - 10.1093/annonc/mdv285
Annals of oncology, Vol. 26, Issue 9 (September 2015) , p. 1936-1941  
Registro completo - Creative Commons
26.
14 p, 384.0 KB The Interaction between Childhood Bullying and the FKBP5 Gene on Psychotic-Like Experiences and Stress Reactivity in Real Life / Cristóbal Narváez, Paula (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Sheinbaum Frank, Tamara (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Rosa, Araceli (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ; Ballespí Sola, Sergi (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; De Castro-Catala, Marta (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ; Peña, Elionora (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ; Kwapil, Thomas (University of North Carolina at Greensboro. Department of Psychology) ; Barrantes-Vidal, Neus (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut)
Aim: The present study employed Experience Sampling Methodology to examine whether the interaction between childhood bullying and FKBP5 variability (i) is associated with the expression of psychotic-like experiences, paranoia, and negative affect, and (ii) moderates psychotic-like, paranoid, and affective reactivity to different forms of momentary stress (situational and social) in daily life. [...]
2016 - 10.1371/journal.pone.0158809
PloS one, Vol. 11, Num. 7 (July 2016) , p. 1-14  
Registro completo - Creative Commons
27.
13 p, 347.6 KB Prediction of week 4 virological response in hepatitis C for making decision on triple therapy : the Optim study / Romero-Gómez, Manuel (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Turnes, Juan (Complejo Hospitalario Universitario de Pontevedra) ; Ampuero, Javier (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Oyagüez, Itziar (Pharmacoeconomics & Outcomes Research IBeria (Madrid)) ; Cuenca, Beatriz (Hospital Universitario Infanta Cristina) ; Gonzalez-García, Juan (Hospital Universitario La Paz (Madrid)) ; Muñoz-Molina, Belén (Roche Farma) ; Aguilar, Rocío (Fisevi (Sevilla)) ; Leal, Sandra (Fisevi (Sevilla)) ; Planas Vilà, Ramon (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Garcia-Samaniego, Javier (Hospital Carlos III (Madrid)) ; Diago, Moises (Hospital General Universitario de Valencia) ; Crespo García, Javier (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Calleja, Jose Luis (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Casado, Miguel Ángel (Pharmacoeconomics & Outcomes Research IBeria (Madrid)) ; Solà Lamoglia, Ricard (Hospital del Mar (Barcelona, Catalunya))
Background: Virological response to peginterferon + ribavirin (P+R) at week 4 can predict sustained virological response (SVR). While patients with rapid virological response (RVR) do not require triple therapy, patients with a decline <1log10 IU/ml HCVRNA (D1L) should have treatment discontinued due to low SVR rate. [...]
2015 - 10.1371/journal.pone.0122613
PloS one, Vol. 10, No 3 (March 2015) , p. e0122613  
Registro completo - Creative Commons
28.
12 p, 192.3 KB Variation at FCGR2A and functionally related genes is associated with the response to anti-TNF therapy in rheumatoid arthritis / Ávila, Gabriela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Tornero, Jesús (Hospital Universitario de Guadalajara) ; Fernández-Nebro, Antonio (Instituto de Investigación Biomédica de Málaga) ; Blanco, Francisco (Instituto de Investigación Biomédica de A Coruña) ; González-Alvaro, Isidoro (Hospital Universitario de la Princesa (Madrid)) ; Cañete, Juan D. (Hospital Clínic i Provincial de Barcelona) ; Maymó, Joan (Hospital del Mar (Barcelona, Catalunya)) ; Alperiz, Mercedes (Hospital Universitario Central de Asturias) ; Fernández-Gutiérrez, Benjamín (Hospital Clínico San Carlos (Madrid)) ; Olivé Marqués, Alejandro (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Corominas, Hèctor (Hospital de Sant Joan Despí Moisès Broggi) ; Erra Duran, Alba (Hospital Sant Rafael (Barcelona)) ; Aterido, Adrià (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; López Lasanta, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Tortosa, Raül (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Julià Cano, Antonio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Marsal Barril, Sara (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Objective: Anti-TNF therapies have been highly efficacious in the management of rheumatoid arthritis (RA), but 25-30% of patients do not show a significant clinical response. There is increasing evidence that genetic variation at the Fc receptor FCGR2A is associated with the response to anti-TNF therapy. [...]
2015 - 10.1371/journal.pone.0122088
PloS one, Vol. 10, Núm. 4 (April 2015) , p. e0122088  
Registro completo - Creative Commons
29.
16 p, 742.2 KB Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence / Aguado, Cristina (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") ; Villatoro, Sergi (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Oliva Pavia, Meritxell (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Izquierdo Fontanills, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner-Delgado, Carla (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Montalvo, Víctor (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; García González, Judit (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Martínez Fundichely, Alexander (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Capilla Pérez, Laia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Estivill, Xavier (Centre de Regulació Genòmica) ; Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Cáceres Aguilar, Mario, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult to study, especially those mediated by inverted repeats or segmental duplications. [...]
2014 - 10.1371/journal.pgen.1004208
PLoS Genetics, Vol. 10, Issue 3 (March 2014) , p. e1004151  
Registro completo - Creative Commons
30.
10 p, 379.3 KB Chiari Malformation Type I : a Case-Control Association Study of 58 Developmental Genes / Urbizu, Aintzane (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Toma, Claudio (Universitat de Barcelona. Departament de Genètica) ; Poca Pastor, María Antonia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sahuquillo Barris, Juan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cuenca-León, Ester (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cormand, Bru (Universitat de Barcelona. Departament de Genètica) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Chiari malformation type I (CMI) is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF), often causing progressive neurological symptoms. The etiology of CMI remains unclear and is most likely multifactorial. [...]
2013 - 10.1371/journal.pone.0057241
PloS one, Vol. 8 Issue 2 (February 2013) , p. e57241  
Registro completo - Creative Commons

Artículos : Encontrados 30 registros   inicioanterior21 - 30  ir al registro:
¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.
Depósito Digital de Documentos de la UAB :: Buscar :: Enviar :: Personalizar :: Ayuda
Powered by Invenio v1.1.6
Mantenido por ddd.bib@uab.cat  :: Metadatos sujetos a:
Colaboramos