Browsing by Author "Armengol i Dulcet, Lluís"

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  • Bosch Pagès, Nina; Escaramís, Geòrgia; Mercader Bigas, Josep Maria; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Elsevier, 2008)
    Copy number variants contribute extensively to inter-individual genomic differences, but little is known about their inter-population variability and diversity. In a previous study (Bosch et al., 2007; 16:2572-2582), we ...
  • Bosch Pagès, Nina; Cáceres Aguilar, Mario; Cardone, Maria Francesca; Carreras, Anna; Ballana Guix, Ester; Rocchi, Mariano; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Oxford University Press, 2007)
    Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements. Part of the difficulty ...
  • Armengol i Dulcet, Lluís; Nevado, Julián; Serra Juhé, Clara, 1984-; Mediano, Carmen; García Santiago, Fe Amalia; García Aragonés, Manel; Villa Marcos, Olaya; Mansilla, Elena; Preciado, Cristina; Fernández, Luis; Mori, María Ángeles; García Pérez, Lidia; Lapunzina, Pablo Daniel; Pérez Jurado, Luis Alberto (Springer, 2012)
    Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently ...
  • Bosch Pagès, Nina (Universitat Pompeu Fabra, 2008-12-19)
    Les duplicacions segmentàries (DSs), o també anomenades duplicons o Low copy Repeats (LCRs), són regions de coma mínim 1 kb amb un alt nivell d'identitat (>90%), que estan presents almenys dues vegades en el genoma. La ...
  • González Ruiz, Juan Ramón; Rodríguez Santiago, Benjamín; Cáceres, Alejandro; Pique Regi, Roger; Rothman, Nathaniel; Chanock, Stephen J.; Armengol i Dulcet, Lluís; Pérez Jurado, Luis Alberto (BioMed Central, 2011)
    Background: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly ...
  • Solé, Xavier; Hernández, Pilar; López de Heredia, Miguel de; Armengol i Dulcet, Lluís; Rodríguez Santiago, Benjamín; Gómez, Laia; Maxwell, Christopher A.; Aguilo, Fernando; Condom, Enric; Abril, Jesús; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Nunes, Virginia; Capellá, Gabriel; Gruber, Stephen B.; Moreno, Víctor; Pujana, Miguel Angel (BioMed Central, 2008)
    Background: Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects of this type of variation may be important when considering susceptibility to common genetic ...
  • Canut, María I.; Villa, Olaya; Kudsieh, Bachar; Mattlin, Heidi; Banchs, Isabel; González, Juan Ramón; Armengol i Dulcet, Lluís; Casaroli-Marano, Ricardo P. (Nature Research, 2021)
    Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological ...
  • Rodríguez Santiago, Benjamín; Malats i Riera, Núria; Rothman, Nathaniel; Armengol i Dulcet, Lluís; García Closas, Montserrat; Kogevinas, Manolis; Villa, Olaya; Hutchinson, Amy; Earl, Julie; Marenne, Gaëlle; Jacobs, Kevin; Rico, Daniel; Tardón, Adonina; Carrato, Alfredo; Thomas, Gilles; Valencia, Alfonso; Silverman, Debra T.; Real, Francisco X.; Chanock, Stephen J.; Pérez Jurado, Luis Alberto (Elsevier, 2010)
    Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although somatic mosaicism for chromosomal abnormalities is a well-established ...
  • Bosch Pagès, Nina; Morell, Marta; Ponsa, Immaculada; Mercader Bigas, Josep Maria; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2009)
    Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms ...
  • Bassaganyas Bars, Laia, 1985-; Riveira Muñoz, Eva; García Aragonés, Manel; González Ruiz, Juan Ramón; Cáceres Aguilar, Mario; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (BioMed Central, 2013)
    Background: There is increasing evidence of the importance of copy number variants (CNV) in genetic diversity among individuals and populations, as well as in some common genetic diseases. We previously characterized a ...
  • Madrigal, Irene; Rodríguez Revenga, Laia; Armengol i Dulcet, Lluís; González, Eva; Rodríguez Santiago, Benjamín; Badenas, Celia; Sánchez Díaz, Aurora; Martínez, Francisco; Guitart, Miriam; Tejada Sánchez, Martha Isabel; Arranz, José Antonio; Tejada Minguez, Maria-Isabel; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Milà, Montserrat (BioMed Central, 2007)
    Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to ...

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