Resultados globales: 10 registros encontrados en 0.03 segundos.
Artículos, Encontrados 8 registros
Documentos de investigación, Encontrados 2 registros
Artículos Encontrados 8 registros  
1.
13 p, 1.8 MB Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse / Forero-Castro, Maribel (Escuela de Ciencias Biológicas, Universidad Pedagógica y Tecnológica de Colombia) ; Montaño, Adrián (IBSAL, IBMCC, Universidad de Salamanca-CSIC, Cancer Research Center) ; Robledo, Cristina (IBSAL, IBMCC, Universidad de Salamanca-CSIC, Cancer Research Center) ; García de Coca, Alfonso (Servicio de Hematología, Hospital Clínico de Valladolid) ; Fuster, José Luis (Servicio de Oncohematología Pediátrica, Hospital Universitario Virgen de la Arrixaca, Murcia) ; de las Heras, Natalia (Servicio de Hematología, Hospital Virgen Blanca, León) ; Queizán, José Antonio (Servicio de Hematología, Hospital General de Segovia) ; Hernández-Sánchez, María (IBSAL, IBMCC, Universidad de Salamanca-CSIC, Cancer Research Center) ; Corchete-Sánchez, Luis A. (Servicio de Hematología, Hospital Universitario de Salamanca) ; Martín-Izquierdo, Marta (IBSAL, IBMCC, Universidad de Salamanca-CSIC, Cancer Research Center) ; Ribera, Jordi (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ribera, José-María (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Benito, Rocío (IBSAL, IBMCC, Universidad de Salamanca-CSIC, Cancer Research Center) ; Hernández-Rivas, Jesús M. (Departamento de Medicina, Universidad de Salamanca)
The clonal basis of relapse in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is complex and not fully understood. Next-generation sequencing (NGS), array comparative genomic hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA) were carried out in matched diagnosis-relapse samples from 13 BCP-ALL patients to identify patterns of genetic evolution that could account for the phenotypic changes associated with disease relapse. [...]
2020 - 10.3390/diagnostics10070455
Diagnostics, Vol. 10 (july 2020)  
2.
65 p, 2.7 MB Genomic analysis of the origins of extant casein variation in goats / Guan, Dailu (Centre de Recerca en Agrigenòmica) ; Mármol-Sánchez, Emilio (Centre de Recerca en Agrigenòmica) ; Cardoso, Tainã Figueiredo (Centre de Recerca en Agrigenòmica) ; Such i Martí, Francesc Xavier (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Landi, Vincenzo (Universidad de Córdoba. Departamento de Genética) ; Tawari, N. R. (Genome Institute of Singapore. Computational and Systems Biology) ; Amills i Eras, Marcel (Centre de Recerca en Agrigenòmica)
The variation in the casein genes has a major impact on the milk composition of goats. Even though many casein polymorphisms have been identified so far, we do not know yet whether they are evolutionarily ancient (i. [...]
2019 - 10.3168/jds.2018-15281
Journal of dairy science, Vol. 102, issue 6 (June 2019) , p. 5230-5241  
3.
14 p, 1.3 MB Detection of hyper-conserved regions in hepatitis B virus X gene potentially useful for gene therapy / González, Carolina (Hospital Universitari Vall d'Hebron) ; Tabernero, David (Hospital Universitari Vall d'Hebron) ; Cortese, Maria Francesca (Hospital Universitari Vall d'Hebron) ; Gregori i Font, Josep (Roche Diagnostics SL) ; Casillas, Rosario (Hospital Universitari Vall d'Hebron) ; Riveiro Barciela, Mar (Universitat Autònoma de Barcelona. Departament de Medicina) ; Godoy, Cristina (Hospital Universitari Vall d'Hebron) ; Sopena, Sara (Hospital Universitari Vall d'Hebron) ; Rando, Ariadna (Hospital Universitari Vall d'Hebron) ; Yll, Marçal (Hospital Universitari Vall d'Hebron) ; Lopez Martinez, Rosa (Hospital Universitari Vall d'Hebron) ; Quer, Josep (Vall d'Hebron Institut de Recerca) ; Esteban, Rafael (Esteban Mur) (Universitat Autònoma de Barcelona. Departament de Medicina) ; Buti, Maria (Universitat Autònoma de Barcelona. Departament de Medicina) ; Rodríguez Frías, Francisco (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
To detect hyper-conserved regions in the hepatitis B virus (HBV) X gene (HBX) 5' region that could be candidates for gene therapy. The study included 27 chronic hepatitis B treatment-naive patients in various clinical stages (from chronic infection to cirrhosis and hepatocellular carcinoma, both HBeAg-negative and HBeAg-positive), and infected with HBV genotypes A-F and H. [...]
2018 - 10.3748/wjg.v24.i19.2095
World Journal of Gastroenterology, Vol. 24 (may 2018) , p. 2095-2107  
4.
14 p, 1.3 MB Analysis of hepatitis B virus preS1 variability and prevalence of the rs2296651 polymorphism in a Spanish population / Casillas, Rosario (Hospital Universitari Vall d'Hebron) ; Tabernero, David (Hospital Universitari Vall d'Hebron) ; Gregori, Josep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Belmonte, Irene (Hospital Universitari Vall d'Hebron) ; Cortese, Maria Francesca (Hospital Universitari Vall d'Hebron) ; González, Carolina (Hospital Universitari Vall d'Hebron) ; Riveiro-Barciela, Mar ; López, Rosa Maria (Hospital Universitari Vall d'Hebron) ; Quer, Josep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Esteban, Rafael ; Buti, Maria ; Rodríguez-Frías, Francisco (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
To determine the variability/conservation of the domain of hepatitis B virus (HBV) preS1 region that interacts with sodium-taurocholate cotransporting polypeptide (hereafter, NTCP-interacting domain) and the prevalence of the rs2296651 polymorphism (S267F, NTCP variant) in a Spanish population. [...]
2018 - 10.3748/wjg.v24.i6.680
World Journal of Gastroenterology, Vol. 24 (february 2018) , p. 680-692  
5.
5 p, 350.2 KB Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients / Spataro, Nino (Universitat Pompeu Fabra) ; Roca-Umbert, Ana (Universitat Pompeu Fabra) ; Cervera-Carles, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Vallès, Mònica (Universitat Pompeu Fabra) ; Anglada, Roger (Universitat Pompeu Fabra, Barcelona Biomedical Research Park (PRBB)) ; Pagonabarraga, Javier (Institut d'Investigació Biomèdica Sant Pau) ; Pascual-Sedano, Berta (Institut d'Investigació Biomèdica Sant Pau) ; Campolongo, Antònia (Institut d'Investigació Biomèdica Sant Pau) ; Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ; Casals, Ferran (Universitat Pompeu Fabra, Barcelona Biomedical Research Park (PRBB)) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Bosch, Elena (Universitat Pompeu Fabra) ; Universitat Autònoma de Barcelona
The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. [...]
2016 - 10.1002/mds.26845
Movement Disorders, Vol. 32 (november 2016) , p. 165-169  
6.
11 p, 1.1 MB Optimized next-generation sequencing genotype-haplotype calling for genome variability analysis / Navarro Fernández, Javier (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ; Nevado, Bruno (University of Oxford. Department of Plant Sciences) ; Hernández Budé, Porfidio (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ; Vera Rodríguez, Gonzalo (Centre de Recerca en Agrigenòmica) ; Ramos-Onsins, Sebastián E. (Centre de Recerca en Agrigenòmica)
The accurate estimation of nucleotide variability using next-generation sequencing data is challenged by the high number of sequencing errors produced by new sequencing technologies, especially for nonmodel species, where reference sequences may not be available and the read depth may be low due to limited budgets. [...]
2017 - 10.1177/1176934317723884
Evolutionary bioinformatics online, Vol. 13, (August 2017) , p. 1-11  
7.
10 p, 498.4 KB Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort / Cacace, Rita (University of Antwerp) ; Van den Bossche, Tobi (Antwerp University Hospital) ; Engelborghs, Sebastiaan (Hospital Network Antwerp () ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Chiang, Huei-Hsin (Karolinska University Hospital) ; Pastor, Pau (Instituto de Salud Carlos III) ; Ortega-Cubero, Sara (Instituto de Salud Carlos III) ; Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Sanchez-Valle, Raquel (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Almeida, Maria Rosário (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Clarimon, Jordi (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Fortea, Juan (Universitat Autònoma de Barcelona. Departament de Neurologia) ; de Mendonça, Alexandre (University of Lisbon) ; Martins, Madalena (University of Lisbon) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Matej, Radoslav (Thomayer Hospital) ; Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ; Vandenbulcke, Mathieu (University of Leuven) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Cras, Patrick (Antwerp University Hospital) ; van der Zee, Julie (University of Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human Mutation, Vol. 36 (october 2015) , p. 1226-1235  
8.
14 p, 1.6 MB Dissecting structural and nucleotide genome-wide variation in inbred Iberian pigs / Esteve Codina, Anna (Centre de Recerca en Agrigenòmica) ; Paudel, Yogesh (Wageningen University. Animal Breeding and Genomics Centre) ; Ferretti, Luca (Centre de Recerca en Agrigenòmica) ; Raineri, Emanuele (Centre Nacional d'Anàlisi Genòmica) ; Megens, Hendrik-Jan (Wageningen University. Animal Breeding and Genomics Centre) ; Silió, Luis (Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria. Departamento de Mejora Genética Animal) ; Rodríguez, María C (Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria. Departamento de Mejora Genética Animal) ; Groenen, Martein AM (Wageningen University. Animal Breeding and Genomics Centre) ; Ramos-Onsins, Sebastián E. (Centre de Recerca en Agrigenòmica) ; Pérez-Enciso, Miguel (Centre de Recerca en Agrigenòmica)
In contrast to international pig breeds, the Iberian breed has not been admixed with Asian germplasm. This makes it an important model to study both domestication and relevance of Asian genes in the pig. [...]
2013 - 10.1186/1471-2164-14-148
BMC genomics, Vol. 14 (March 2013) , art. 148  

Documentos de investigación Encontrados 2 registros  
1.
1 p, 557.1 KB Next-generation sequencing techniques in preimplantation genetic screening / Font Cunill, Berta ; Vidal, Francesca, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2015
Grau en Biotecnologia [815]  
2.
1 p, 1.2 MB New generation of DNA sequencing technologies / Viader Godoy, Marc ; Dabán Balañá, Juan Ramón, dir. (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2013
Grau en Bioquímica [814]  

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