Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 5-nov-2020 | A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease | Mederer, Tanja; Schmitteckert, Stefanie; Volz, Julia; Martínez, Cristina; Röth, Ralph; Thumberger, Thomas; Eckstein, Volker; Scheuerer, Jutta; Thöni, Cornelia; Lasitschka, Felix; Carstensen, Leonie; Günther, Patrick; Holland-Cunz, Stefan; Hofstra, Robert MW; Brosens, Erwin; Rosenfeld, Jill A.; Schaaf, Christian P.; Schriemer, Duco; Ceccherini, Isabella; Rusmini, Marta; Tilghman, Joseph; Luzón-Toro, Berta CSIC; Torroglosa, Ana CSIC ORCID; Borrego, Salud CSIC ORCID; Sze-man Tang, Clara; Garcia-Barceló, Mercè; Tam, Paul; Paramasivam, Nagarajan; Bewerunge-Hudler, Melanie; Torre, Carolina de la; Gretz, Norbert; Rappold, Gudrun A.; Romero, Phillipp; Niesler, Beate | artículo |
closedAccess | | 2012 | Abnormal localization of phosphorylated and total leucine-rich repeat kinase 2 in Lewy Body disease | Luzón-Toro, Berta CSIC; García Gómez-Heras, S.; Guerrero-Márquez, C.; Gómez-Suaga, P.; Fernández-García Héctor; Hilfiker, Sabine | póster de congreso |
openAccess | | 28-nov-2020 | ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease | Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 1-mar-2009 | Combined kinase inhibition modulates parkin inactivation | Rubio de la Torre, Elena; Luzón-Toro, Berta CSIC; Forte-Lago, Irene; Mínguez-Castellanos, Adolfo; Ferrer, Isidro; Hilfiker, Sabine | artículo |
openAccess | | 2012 | Comprehensive analysis of NRG1 common and rare variants in hirschsprung patients | Luzón-Toro, Berta CSIC; Torroglosa, Ana CSIC ORCID; Núñez-Torres, Rocío; Enguix-Riego, María del Valle; Fernández, Raquel M. CSIC ORCID; Agustín, Juan Carlos de; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 26-jun-2019 | Epigenetic Mechanisms in Hirschsprung Disease | Torroglosa, Ana CSIC ORCID; Villalba-Benito, Leticia CSIC; Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 28-dic-2012 | Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung¿s disease | Fernández, Raquel M. CSIC ORCID; Bleda, Marta; Núñez-Torres, Rocío; Medina, Ignacio; Luzón-Toro, Berta CSIC; García-Alonso, Luz; Torroglosa, Ana CSIC ORCID; Marbá, Martina; Enguix-Riego, María del Valle; Montaner, David; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 9-mar-2021 | Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development | Villalba-Benito, Leticia CSIC; López-López, Daniel CSIC ORCID; Torroglosa, Ana CSIC ORCID; Casimiro-Soriguer, Carlos S. CSIC ORCID CVN; Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 2-ago-2020 | Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease | Torroglosa, Ana CSIC ORCID; Villalba-Benito, Leticia CSIC; Fernández, Raquel M. CSIC ORCID; Luzón-Toro, Berta CSIC; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 2019 | Influencers on thyroid cancer onset: Molecular genetic basis | Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | 2012 | Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP | Gómez-Suaga, P.; Luzón-Toro, Berta CSIC; Churamani, D.; Zhang, L.; Bloor-Young, D.; Patel, S.; Woodman, P. G.; Churchill, G. C.; Hilfiker, Sabine | artículo |
openAccess | | 7-oct-2019 | LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer | Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Martos-Martínez, J. M.; Rubio-Manzanares-Dorado, M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 23-ene-2013 | Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients | Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Torroglosa, Ana CSIC ORCID; Agustín, Juan Carlos de; Méndez-Vidal, Cristina CSIC ORCID; Segura, Dolores Isabel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | 2011 | Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung¿s disease | Ruiz-Ferrer, Macarena CSIC; Torroglosa, Ana CSIC ORCID; Luzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Mulligan, Lois M.; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 2-dic-2013 | Pathways systematically associated to Hirschsprung's disease | Fernández, Raquel M. CSIC ORCID; Bleda, Marta; Luzón-Toro, Berta CSIC; García-Alonso, Luz; Arnold, Stacey; Sribudiani, Yunia; Besmond, Claude; Lantieri, Francesca; Doan, Betty; Ceccherini, Isabella; Lyonnet, Stanislas; Hofstra, Robert MW; Chakravarti, Aravinda; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | ene-2020 | What is new about the genetic background of Hirschsprung disease? | Luzón-Toro, Berta CSIC; Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo de revisión |