Resultats globals: 14 registres trobats en 0.03 segons.
Articles, 8 registres trobats
Documents de recerca, 6 registres trobats
Articles 8 registres trobats  
1.
14 p, 745.8 KB Functional comparison of XPF missense mutations associated to multiple DNA repair disorders / Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Aza-Carmona, Miriam (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Jia, Nan (Nagoya University. Research Institute of Environmental Medicine) ; Ogi, Tomoo (Nagoya University. Research Institute of Environmental Medicine) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
XPF endonuclease is one of the most important DNA repair proteins. Encoded by XPF/ERCC4, XPF provides the enzymatic activity of XPF-ERCC1 heterodimer, an endonuclease that incises at the 5' side of various DNA lesions. [...]
2019 - 10.3390/genes10010060
Genes, Vol. 10, Núm. 1 (January 2019) , art. 60  
2.
7 p, 481.9 KB Risk category system to identify pituitary adenoma patients with AIP mutations / Caimari, Francisca (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya). Departament d'Endocrinologia) ; Hernández-Ramírez, Laura Cristina (Queen Mary University of London. William Harvey Research Institute) ; Dang, Mary N (Queen Mary University of London. William Harvey Research Institute) ; Gabrovska, Plamena (Queen Mary University of London. William Harvey Research Institute) ; Iacovazzo, Donato (Queen Mary University of London. William Harvey Research Institute) ; Stals, Karen (Royal Devon & Exeter Hospital) ; Ellard, Sian (Royal Devon & Exeter Hospital) ; Korbonits, Márta (Queen Mary University of London. William Harvey Research Institute) ; Universitat Autònoma de Barcelona
Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbon receptor-interacting protein (AIP) mutations in patients with pituitary adenomas. [...]
2018 - 10.1136/jmedgenet-2017-104957
Journal of medical genetics, Vol. 55, issue 4 (April 2018) , p. 254-260  
3.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / van der Zee, Julie (University of Antwerp) ; Gijselinck, Ilse (University of Antwerp) ; Van Mossevelde, Sara (Antwerp University Hospital) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; De Bleecker, Jan (University Hospital Ghent and University of Ghent) ; Baets, Jonathan (Antwerp University Hospital) ; Gelpi, Ellen (Neurological Tissue Bank of the Biobanc ‐ Hospital Clinic‐Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS)) ; Rojas García, Ricardo (Universitat Autònoma de Barcelona) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Diehl‐Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Perneczky, Robert (West London Mental Health Trust) ; Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ; Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ; Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Jordanova, Albena (Medical University‐Sofia) ; Sarafov, Stayko (Medical University‐Sofia) ; Tournev, Ivailo (New Bulgarian University) ; de Mendonça, Alexandre (University of Lisbon) ; Miltenberger‐Miltényi, Gabriel (University of Lisbon) ; Simões do Couto, Frederico (University of Lisbon) ; Ramirez, Alfredo (University of Cologne) ; Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ; Heneka, Michael T. (University of Bonn) ; Gómez‐Tortosa, Estrella (Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (Antwerp University Hospital) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Jonghe, Peter (Antwerp University Hospital) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (Hospital Network Antwerp) ; Nuytten, Dirk (Hospital Network Antwerp) ; Smets, Katrien (Antwerp University Hospital) ; Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ; Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ; Bleecker, Jan De (University Hospital Ghent) ; Santens, Patrick (University Hospital Ghent) ; Dermaut, Bart (University Hospital Ghent) ; Versijpt, Jan (University Hospital Brussels) ; Michotte, Alex (University Hospital Brussels) ; Ivanoiu, Adrian (Saint‐Luc University Hospital) ; Deryck, Olivier (General Hospital Sint‐Jan Brugge) ; Bergmans, Bruno (General Hospital Sint‐Jan Brugge) ; Delbeck, Jean (General Hospital Sint‐Maria) ; Bruyland, Marc (General Hospital Glorieux Ronse) ; Willems, Christiana (Jessa Hospital) ; Salmon, Eric (University of Liège and Memory Clinic) ; Pastor, Pau (CIBERNED Instituto de Salud Carlos III) ; Ortega‐Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Hernández, Isabel (Fundació ACE, Institut Català de Neurociències Aplicades) ; Boada Rovira, Mercè (Fundació ACE, Institut Català de Neurociències Aplicades) ; Ruiz Laza, Agustín (Fundació ACE, Institut Català de Neurociències Aplicades) ; Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ; Sánchez Valle, Raquel (Hospital Clínic, IDIBAPS) ; Lladó, Albert (Hospital Clínic, IDIBAPS) ; Santana, Isabel (University of Coimbra) ; Rosário Almeida, Maria (University of Coimbra) ; Frisoni, Giovanni B (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ; Maetzler, Walter (Hertie Institute for Clinical Brain Research) ; Matej, Radoslav (Thomayer Hospital, Prague and Charles University) ; Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Kovacs, Gabor G. (Medical University of Vienna) ; Fabrizi, Gian Maria (University of Verona) ; Testi, Silvia (University of Verona)
We investigated the mutation spectrum of the TANK‐Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early‐Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human Mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309  
4.
15 p, 2.2 MB Targeted deep sequencing improves outcome stratification in chronic myelomonocytic leukemia with low risk cytogenetic features / Palomo Sanchis, Laura (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular) ; Garcia, Olga (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Arnan, Montse (ICO-Hospital Duran i Reynals. Hematology Service) ; Xicoy, Blanca (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Fuster García, Francisco (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Cabezón, Marta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Coll, Rosa (ICO-Hospital Josep Trueta. Hematology Service) ; Ademà, Vera (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Grau Cat, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Jiménez, Maria-José (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Pomares, Helena (ICO-Hospital Duran i Reynals. Hematology Service) ; Marcé, Sílvia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Mallo, Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Millá, Fuensanta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Alonso, Esther (ICO-Hospital Duran i Reynals. Hematology Service) ; Sureda, Anna (ICO-Hospital Duran i Reynals. Hematology Service) ; Gallardo, David (ICO-Hospital Josep Trueta. Hematology Service) ; Feliu, Evarist (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ribera, Josep-Maria (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Solé, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Zamora, Lurdes (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Clonal cytogenetic abnormalities are found in 20-30% of patients with chronic myelomonocytic leukemia (CMML), while gene mutations are present in >90% of cases. Patients with low risk cytogenetic features account for 80% of CMML cases and often fall into the low risk categories of CMML prognostic scoring systems, but the outcome differs considerably among them. [...]
2016 - 10.18632/oncotarget.10937
Oncotarget, Vol. 7, Num. 35 (August 2016) , p. 57021-57035  
5.
16 p, 3.8 MB Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia / Tuschl, Karin (University College London. Institute of Child Health) ; Meyer, Esther (University College London. Institute of Child Health) ; Valdivia, Leonardo E. (University College London. Department of Cell and Developmental Biology) ; Zhao, Ningning (Oregon Health and Science University. Department of Cell, Development and Cancer Biology) ; Dadswell, Chris (University of Sussex. Department of Chemistry, School of Life Sciences) ; Abdul-Sada, Alaa (University of Sussex. Department of Chemistry, School of Life Sciences) ; Hung, Christina Y. (Harvard Medical School. Division of Genetics and Genomics) ; Simpson, Michael A. (King's College London School of Medicine. Division of Genetics and Molecular Medicine) ; Chong, W.K. (Great Ormond Street Hospital for Children. Department of Radiology (Londres)) ; Jacques, Thomas S. (Great Ormond Street Hospital for Children. Department of Histopathology (Londres)) ; Woltjer, Randy L. (Oregon Health and Science University. Department of Pathology) ; Eaton, Simon (University College London. Institute of Child Health) ; Gregory, Allison (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Sanford, Lynn (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Kara, Eleanna (University College London. Institute of Neurology) ; Houlden, Henry (University College London. Institute of Neurology) ; Cuno, Stephan M. (Technical University of Munich. Institute of Human Genetics) ; Prokisch, Holger (Technical University of Munich. Institute of Human Genetics) ; Valletta, Lorella (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Tiranti, Valeria (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Younis, Rasha (University of Birmingham. Department of Medical and Molecular Genetics) ; Maher, Eamonn R. (University of Birmingham. Centre for Rare Diseases and Personalised Medicine) ; Spencer, John (University of Sussex. Department of Chemistry, School of Life Sciences) ; Straatman Iwanowska, Ania (University College London. Laboratory for Molecular Cell Biology and Cell Biology Unit) ; Gissen, Paul (University College London. Institute of Child Health) ; Selim, Laila A.M. (Cairo University Children's Hospital. Department of Paediatric Neurology) ; Pintos Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coroleu Lletget, Wifredo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mohammad, Shekeeb S. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Yoganathan, Sangeetha (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Dale, Russell C. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Thomas, Maya (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Rihel, Jason (University College London. Department of Cell and Developmental Biology) ; Bodamer, Olaf A. (Harvard Medical School. Division of Genetics and Genomics) ; Enns, Caroline A. (Oregon Health & Sciences University. Department of Cell, Development and Cancer Biology) ; Hayflick, Susan J. (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Clayton, Peter T. (University College London. Institute of Child Health) ; Mills, Philippa B. (University College London. Institute of Child Health) ; Kurian, Manju A. (University College London. Institute of Child Health) ; Wilson, Stephen W. (University College London. Department of Cell and Developmental Biology)
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. [...]
2016 - 10.1038/ncomms11601
Nature communications, Vol. 7 Núm. 11601 (May 2016)  
6.
12 p, 5.3 MB Methylation of MGMT and ADAMTS14 in normal colon mucosa: biomarkers of a field defect for cancerization preferentially targeting elder African-Americans / Alonso, Sergio (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Dai, Yuichi (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Yamashita, Kentaro (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Horiuchi, Shina (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Dai, Tomoko (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Matsunaga, Akihiro (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Sánchez Muñoz, Rosa (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Bilbao Sieyro, Cristina (Instituto Canario de Investigación del Cáncer) ; Díaz Chico, Juan Carlos (Instituto Canario de Investigación del Cáncer) ; Chernov, Andrei V. (Sanford Burnham Prebys Medical Discovery Institute (Califòrnia)) ; Strongin, Alex Y. (Sanford Burnham Prebys Medical Discovery Institute (Califòrnia)) ; Perucho, Manuel (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer)
Somatic hypermethylation of the O6-methylguanine-DNA methyltransferase gene (MGMT) was previously associated with G > A transition mutations in KRAS and TP53 in colorectal cancer (CRC). We tested the association of MGMT methylation with G > A mutations in KRAS and TP53 in 261 CRCs. [...]
2015 - 10.18632/oncotarget.2852
Oncotarget, Vol. 6 Núm. 5 (february 2015)  
7.
13 p, 187.3 KB O fim do(s) tempo(s) como o fim da História : uma discussão sobre as mutações da concepção e percepção do Tempo entre o último período antigo e o advento do Cristianismo / Amaral, Ronaldo (Universidade Federal de Mato Grosso do Sul (Brasil))
As mutações/continuidades que marcaram a transição do pensamento antigo para o cristão foram múltiplas e profundas, e tanto no âmbito das idéias quanto das sensibilidades. E aqui o tempo. Talvez para esta época sua concepção e percepção, resultadas daquela dupla mutação / continuidade, dando aqui ênfase as verificadas mutações, tenha sido a mais significativa contribuição para a constituição de uma nova cosmovisão no seio da sociedade cristã, já que imporia aos seus nada mais nada menos que o próprio lugar do homem no mundo e do mundo no homem, e de ambos no âmbito de Deus.
The mutations/continuities that marked the transition of the old thought for the Christian were multiple and deep, and so much in the ambit of the ideas as of the sensibilities. And here the time. Perhaps for this time conception and perception, resulted of that couple mutations/continuities, giving emphasis here verified them mutations, have been the most significant contribution for the constitution of a new worldview in the breast of the Christian society, since it would impose to the followers no less than the man's own place in the world and of the world in the man, and of both in the ambit of God.

2010
Mirabilia, Núm. 11 (Juny-Desembre 2010) , p. 156-168  
8.
59 p, 1.7 MB Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations / Kalba, Reinhard (University of Wurzburg. Department of Human Genetics) ; Neveling, Kornelia (University of Wurzburg. Department of Human Genetics) ; Hoehn, Holger (University of Wurzburg. Department of Human Genetics) ; Schneider, Hildegard (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Linka, Yvonne (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Batishb, Sat Dev (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hunt, Curtis (University of New Mexico. Division of Epidemiology) ; Berwick, Marianne (University of New Mexico. Division of Epidemiology) ; Callén, Elsa (Universitat Autónoma de Barcelona. Department of Genetics and Microbiology) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (CIEMAT. Hematopoietic Gene Therapy Program) ; Bueren, Juan (CIEMAT. Hematopoietic Gene Therapy Program) ; Dasí, Ángeles (Hospital la Fe (Valencia). Unit of Pediatric Hematology) ; Soulier, Jean (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Gluckman, Eliane (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Zwaan, C. Michel (Erasmus MC Sophia Children's Hospital (Rotterdam). Department of Pediatric Hematology/Oncology) ; Van Spaendonk, Rosalina (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Pals, Gerard (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Joenje, Hans (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Grompe, Markus (Oregon Health and Science University, Department of Medical and Molecular Genetics) ; Auerbach, Arleen D. (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hanenberg, Helmut (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Schindler, Detlev (University of Wurzburg. Department of Human Genetics)
FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 FA patients from 23 families and 4 additional unrelated patients to complementation group FA-D2. [...]
2007
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910  

Documents de recerca 6 registres trobats  
1.
1 p, 5.7 MB Hypertrophic cardiomyopathy : characterization and treatments for one of the diseases that more deaths generates / Llamas de Castro, Ana M. ; Universitat Autònoma de Barcelona. Facultat de Biociències
2018
Graduat o Graduada en Bioquímica [814]  
2.
13 p, 1.3 MB Desenvolupament d'una eina de càlcul de compatibilitat a partir de tests de portadors de mutacions genètiques / Requena, Antoni ; Martí Escalé, Ramon, dir. (Universitat Autònoma de Barcelona. Departament d'Enginyeria de la Informació i de les Comunicacions) ; Universitat Autònoma de Barcelona. Escola d'Enginyeria
En els darrers anys, la investigació i els nous descobriments en el camp de la genètica humana estan augmentant de manera considerable. Malgrat que encara queda molt per descobrir, tot allò que a hores d'ara ja es coneix té una gran utilitat en el camp de la reproducció assistida. [...]
Over the last few years, research and new discoveries in the field of human genetics are increasing a lot. Although there are still many unknown parts, everything that is known by now has a more than considerable utility in the field of assisted reproduction. [...]
En los últimos años, la investigación y los nuevos descubrimientos en el campo de la genética humana están aumentando de una forma más que considerable. A pesar de que aún queda mucho por descubrir, todo lo que ahora ya se conoce tiene una gran utilidad en la reproducción asistida. [...]

2016-06-27
Enginyeria Informàtica [958]  
3.
303 p, 7.1 MB Estudi de les mutacions del gen EGFR en pacients d'estadis avançats per CPCNP / Queralt Herrero, Cristina ; Rosell Costa, Rafael, dir. ; Tarón Roca, Miquel, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
El carcinoma de pulmó de cèl·lula no petita (CPCNP) és un dels tumors més freqüents en la població caucàsica en què la histologia més comuna és l'adenocarcinoma. En diversos estudis clínics es va observar que un subgrup de pacients amb CPCNP avançat, amb unes característiques molt concretes (sexe femení, d'histologia adenocarcinoma i no fumador), es beneficiaven del tractament amb uns inhibidors de l'activitat tirosina quinasa (ITQ) d'EGFR (Epidermal Growth Factor Receptor). [...]
Non-small-cell lung cancer (NSCLC) is a major cause of death from cancer in the Caucasian population. Some clinical studies of tyrosine kinase inhibitors (TKIs) that target the epidermal growth factor receptor (EGFR) gene in patients with advanced NSCLC showed that some patients with clinical and pathological factors -such as female sex, adenocarcinoma histology (the most frequent histology in NSCLC) and never smoker status- experienced rapid responses. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2014  
4.
1 p, 184.6 KB Point mutations in mitochondrial DNA and their relation with longevity / Homdedeu Cortés, Miquel de ; Pereira dos Santos, Cristina Maria, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2014
Graduat o Graduada en Genètica [833]  
5.
1 p, 673.2 KB Molecular mechanisms of drug resistance in Mycobacterium tuberculosis : intrinsic and acquired resistance / Arumí Rovira, Marçal ; Gibert, Isidre, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2014
Microbiologia [816]  
6.
1 p, 6.2 MB LINE-1 retrotransposons and their impact on the human genome and in disease-causing mutations / Corrales Lorite, S. ; García Guerreiro, María Pilar, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2013
Graduat o Graduada en Genètica [833]  

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