• Advances in allergen-microarray technology for diagnosis and monitoring of allergy: The MeDALL allergen-chip

  Lupinek, Christian; Antó i Boqué, Josep Maria; Valenta, Rudolf (Elsevier, 2013)

  Allergy diagnosis based on purified allergen molecules provides detailed information regarding the individual sensitization profile of allergic patients, allows monitoring of the development of allergic disease and of the ...
• Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

  Corbett, Mark A.; van Eyk, Clare L.; Webber, Dani L.; Bent, Stephen J.; Newman, Morgan; Harper, Kelly; Berry, Jesia G.; Azmanov, Dimitar N.; Woodward, Karen J.; Gardner, Alison E.; Slee, Jennie; Pérez Jurado, Luis Alberto; MacLennan, Alastair H.; Gecz, Jozef (Nature Research, 2018)

  Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) ...
• Strategies for integrated analysis in imaging genetics studies

  Vilor Tejedor, Natàlia, 1988-; Alemany, Silvia; Cáceres, Alejandro; Bustamante Pineda, Mariona; Pujol Martí, Jesús, 1981-; Sunyer Deu, Jordi; González Ruiz, Juan Ramón (Elsevier, 2018)

  Imaging Genetics (IG) integrates neuroimaging and genomic data from the same individual, deepening our knowledge of the biological mechanisms behind neurodevelopmental domains and neurological disorders. Although the ...
• Effect of specific over nonspecific VR-based rehabilitation on poststroke motor recovery: a systematic meta-analysis

  Maier, Martina; Rubio Ballester, Belén; Duff, Armin; Duarte Oller, Esther; Verschure, Paul F.M.J. (SAGE Publications, 2019)

  BACKGROUND: Despite the rise of virtual reality (VR)-based interventions in stroke rehabilitation over the past decade, no consensus has been reached on its efficacy. This ostensibly puzzling outcome might not be that ...
• Oxytocin prevents the increase of cocaine-related responses produced by social defeat

  Ferrer-Pérez, Carmen; Castro-Zavala, Adriana; Luján, Miguel Ángel; Filarowska, Joanna; Ballestín, Raúl; Miñarro, José; Valverde Granados, Olga; Rodríguez-Arias, Marta (Elsevier, 2019)

  The neuropeptide oxytocin (OXT) plays a critical role in the regulation of social and emotional behaviors. OXT plays a role in stress response and in drug reward, but to date no studies have evaluated its implication in ...
• Desarrollo, estudio de equivalencia y datos normativos de la versión española B del Free and Cued Selective Reminding Test

  Grau-Guinea, L.; Pérez Enríquez, Carmen; García Escobar, Greta; Arrondo-Elizarána, C.; Pereira-Cutiño, B.; Florido-Santiago, M.; Piqué-Candini, J.; Planas, A.; Paez, M.; Peña Casanova, Jordi; Sánchez Benavides, Gonzalo (Elsevier, 2018)

  INTRODUCTION: The Free and Cued Selective Reminding Test (FCSRT) is widely used for the assessment of verbal episodic memory, mainly in patients with Alzheimer disease. A Spanish version of the FCSRT and normative data ...
• Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome

  Blanco Hinojo, Laura, 1981-; Pujol Martí, Jesús; Esteba-Castillo, Susanna; Martínez-Vilavella, Gerard; Giménez Palop, Olga; Gabaue, Elisabeth; Casamitjana, Laia; Deus, Joan; Novell, Ramon; Caixàs, Assumpta (Elsevier, 2019)

  OBJECTIVE: To investigate, based on a putative abnormal neural processing of disgusting signals in Prader Willi syndrome (PWS) patients, the brain response to visual representations of disgusting food in PWS using functional ...
• A longitudinal study of brain anatomy changes preceding dementia in Down syndrome

  Pujol Martí, Jesús; Fenoll, Raquel; Ribas-Vidal, Núria; Martínez-Vilavella, Gerard; Blanco Hinojo, Laura, 1981-; Blanco Hinojo, Laura, 1981-; García-Alba, Javier; Deus, Joan; Novell, Ramon; Esteba-Castillo, Susanna (Elsevier, 2018)

  BACKGROUND: We longitudinally assessed Down syndrome individuals at the age of risk of developing dementia to measure changes in brain anatomy and their relationship to cognitive impairment progression. METHODS: Forty-two ...
• Prediction error connectivity: A new method for EEG state analysis

  Principe, Alessandro; Ley Nacher, Miguel; Conesa Bertran, Gerardo; Rocamora Zúñiga, Rodrigo Alberto (Elsevier, 2019)

  Several models have been proposed to explain brain regional and interregional communication, the majority of them using methods that tap the frequency domain, like spectral coherence. Considering brain interareal communication ...
• Probabilistic functional tractography of the human cortex revisited

  Trebaul, Lena; Rocamora Zúñiga, Rodrigo Alberto; David, Olivier (Elsevier, 2018)

  In patients with pharmaco-resistant focal epilepsies investigated with intracranial electroencephalography (iEEG), direct electrical stimulations of a cortical region induce cortico-cortical evoked potentials (CCEP) in ...
• Kidney transplant from controlled donors following circulatory death: Results from the GEODAS-3 multicentre study

  Portolés, José; Pérez-Saez, María José; Pascual Santos, Julio (Elsevier, 2019)

  INTRODUCTION: Many European countries have transplant programmes with controlled donors after cardiac death (cDCD). Twenty-two centres are part of GEODAS group. We analysed clinical results from a nephrological perspective. ...
• The Spanish Society of Nephrology (SENEFRO) commentary to the Spain GBD 2016 report: keeping chronic kidney disease out of sight of health authorities will only magnify the problem

  Ortiz, Alberto; Sanchez-Niño, Maria Dolores; Crespo Barrio, Marta; De-Sequera-Ortiz, Patricia; Fernández-Giráldez, Elvira; García-Maset, Rafael; Macía-Heras, Manuel; Pérez-Fontán, Miguel; Rodríguez-Portillo, Mariano; Salgueira-Lazo, Mercedes; Sánchez-Álvarez, Emilio; Santamaría-Olmo, Rafael; Simal-Blanco, Fernando; Pino-Pino, María Dolores (Elsevier, 2019)

  The Global Burden of Disease (GBD) study measures the health of populations worldwide and by country on an annual basis and aims at helping guide public policy on health issues. The GBD estimates for Spain in 2016 and ...
• Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set

  Del Toro, N.; Piñero González, Janet, 1977-; Furlong, Laura I., 1971-; Porras, P.; IMEx Consortium Curators (Nature Research, 2019)

  The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct ...
• Usefulness of the KDPI in Spain: A comparison with donor age and definition of standard/expanded criteria donor

  Arias Cabrales, Carlos Enrique; Pérez-Sáez, María José; Redondo Pachón, María Dolores; Buxeda, Anna; Burballa Tarrega, Carla Cristina; Bermejo García, Sheila; Sierra Ochoa, Adriana; Mir Fontana, M. Luisa; Buron Pust, Andrea; Zapatero, Ana; Crespo Barrio, Marta; Pascual Santos, Julio (Elsevier, 2018)

  INTRODUCTION: Kidney donor shortage requires expanding donor selection criteria, as well as use of objective tools to minimize the percentage of discarded organs. Some donor pre-transplant variables such as age, standard/expanded ...
• Shared heritability and functional enrichment across six solid cancers

  Jiang, Xia; Kogevinas, Manolis; Koutros, Stella; Lindström, Sara (Nature Research, 2019)

  Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total ...
• Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

  Haworth, S.; Vrijheid, Martine; Guxens Junyent, Mònica; Sunyer Deu, Jordi; St. Pourcain, Beate (Nature Research, 2019)

  Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the ...
• Germline variation at 8q24 and prostate cancer risk in men of European ancestry

  Matejcic, Marco; Kogevinas, Manolis; Haiman, Christopher A. (Nature Research, 2018)

  Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ...
• Manic fringe deficiency imposes jagged1 addiction to intestinal tumor cells

  López Arribillaga, Erika; Rodilla, Verónica; Colomer Montañá, Carlota; Vert, Anna; Shelton, Amy; Cheng, Jason H.; Yan, Bing; González Pérez, Abel; Junttila, Melissa R.; Iglesias Coma, Mar; Torres, Ferran; Albanell Mestres, Joan; Villanueva, Alberto; Bigas Salvans, Anna; Siebel, Christian W.; Espinosa Blay, Lluís (Nature Research, 2018)

  Delta ligands regulate Notch signaling in normal intestinal stem cells, while Jagged1 activates Notch in intestinal adenomas carrying active β-catenin. We used the ApcMin/+ mouse model, tumor spheroid cultures, and ...
• Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

  Dadaev, Tokhir; Kogevinas, Manolis; Castaño Vinyals, Gemma; Kote-Jarai, Zsofia (Nature Research, 2018)

  Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable ...
• A retinoic acid-dependent stroma-leukemia crosstalk promotes chronic lymphocytic leukemia progression

  Farinello, Diego; Bascones, Sabrina; Lligé, David; Brendolan, Andrea (Nature Research, 2018)

  In chronic lymphocytic leukemia (CLL), the non-hematopoietic stromal microenvironment plays a critical role in promoting tumor cell recruitment, activation, survival, and expansion. However, the nature of the stromal cells ...

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