Browsing by Author "Rodríguez Santiago, Benjamín"

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  • Machiela, Mitchell J.; Real, Francisco X.; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Elsevier, 2015)
    Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a ...
  • Serra Juhé, Clara, 1984-; Rodríguez Santiago, Benjamín; Cuscó Martí, Ivon, 1973-; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2012)
    Background: Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly ...
  • Earl, Julie; Rico, Daniel; Carrillo, Enrique; Rodríguez Santiago, Benjamín; Méndez Pertuz, Marinela; Auer, Herbert; Gómez, Gonzalo; Barton Grossman, Herbert; Pisano, David G.; Schulz, Wolfgang; Pérez Jurado, Luis Alberto; Carrato, Alfredo; Theodorescu, Dan; Chanock, Stephen J.; Valencia, Alfonso; Real, Francisco X. (BioMed Central, 2015)
    Following the publication of our recent article in BMC Genomics [1] a number of aspects were called to our attention. We have carefully reviewed the experiments reported in this manuscript, as well as additional data from ...
  • 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 ...
  • Homs Raubert, Aïda, 1983-; Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Villanueva, CM .; Monk, Dave; Cuscó Martí, Ivon, 1973-; Pérez Jurado, Luis Alberto (Nature Publishing Group, 2016)
    Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is ...
  • 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 ...
  • Marenne, Gaëlle; Real, Francisco X.; Rothman, Nathaniel; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Kogevinas, Manolis; García Closas, Montserrat; Silverman, Debra T.; Chanock, Stephen J.; Génin, Emmanuelle; Malats i Riera, Núria (BioMed Central, 2012)
    BACKGROUND: Structural variations such as copy number variants (CNV) influence the expression of different phenotypic traits. Algorithms to identify CNVs through SNP-array platforms are available. The ability to evaluate ...
  • Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Homs Raubert, Aïda, 1983-; Santoyo-Lopez, Javier; Rigau, Maria; Aznar Laín, Gemma; Campo Casanelles, Miguel del, 1966-; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez Arumi, Armand, 1980-; Antiñolo, Guillermo; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973- (BioMed Central, 2015)
    BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited ...
  • Zhou, W.; Real, Francisco X.; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Nature Publishing Group, 2016)
    Mosaic loss of chromosome Y (mLOY) leading to gonosomal XY/XO commonly occurs during aging, particularly in smokers. We investigated whether mLOY was associated with non-hematological cancer in three prospective cohorts ...
  • 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 ...
  • Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc; Flores Peirats, Raquel; González Ruiz, Juan Ramón; Rodríguez Santiago, Benjamín; Argente, Jesús; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2017)
    Obesity is a multifactorial disorder with high heritability (50–75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy ...
  • Earl, Julie; Rico, Daniel; Carrillo, Enrique; Rodríguez Santiago, Benjamín; Méndez Pertuz, Marinela; Auer, Herbert; Gómez, Gonzalo; Barton Grossman, Herbert; Pisano, David G.; Schulz, Wolfgang; Pérez Jurado, Luis Alberto; Carrato, Alfredo; Theodorescu, Dan; Chanock, Stephen J.; Valencia, Alfonso; Real, Francisco X. (BioMed Central, 2015)
    Background. Urothelial bladder cancer is a highly heterogeneous disease. Cancer cell lines are useful tools for its study. This is a comprehensive genomic characterization of 40 urothelial bladder carcinoma (UBC) cell lines ...
  • 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 ...