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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 26-ago-2010 | A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients | Sánchez-Mejías, Avencia; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | 2012 | Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene | Fernández, Raquel M. CSIC ORCID; Núñez-Torres, Rocío; García-Díaz, Lutgardo CSIC ORCID CVN; Agustín, Juan Carlos de; Antiñolo, Guillermo CSIC ORCID | artículo |
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 | | 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 | | 13-oct-2011 | Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events | Núñez-Torres, Rocío; Fernández, Raquel M. CSIC ORCID; Acosta, Manuel Jesús; Enguix-Riego, María del Valle; Marbá, Martina; Agustín, Juan Carlos de; Castaño, Luis; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 16-nov-2017 | Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease | Torroglosa, Ana CSIC ORCID; Villalba-Benito, Leticia CSIC; Fernández, Raquel M. CSIC ORCID; Moya-Jiménez, María José; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
closedAccess | | abr-2021 | Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation | Cuenca-Barrales, Carlos; Monserrat-García, M. T.; Domínguez-Cruz, Javier Jesús; Suñol, Mariona; Zulueta-Dorado, T. de; Fernández, Raquel M. CSIC ORCID; Mascaró, José Manuel; Vicente, Asunción; Bernabéu-Wittel, José | carta al director |
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 |
closedAccess | | 15-sep-2016 | Epigenetics in ENS development and Hirschsprung disease | Torroglosa, Ana CSIC ORCID; Alves, M. M.; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Hofstra, Robert MW; 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 |
closedAccess | | 2013 | Genetic Basis of Hirschsprung¿s Disease | Borrego, Salud CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Fernández, Raquel M. CSIC ORCID | capítulo de libro |
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 | | 16-feb-2016 | Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease | Enguix-Riego, María del Valle; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Moya-Jiménez, María José; Agustín, Juan Carlos de; Antiñolo, Guillermo 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 | | 1-may-2023 | Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing | Tous, Cristina CSIC ORCID; Muñoz-Redondo, Carmen; Bravo-Gil, Nereida CSIC; Gavilán, Ángela; Fernández, Raquel M. CSIC ORCID; Antiñolo, Juan; Navarro González, Elena CSIC ORCID; 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 |
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 |
openAccess | | 22-sep-2010 | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region | Fernández, Raquel M. CSIC ORCID; Núñez-Torres, Rocío; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
openAccess | | 11-may-2010 | Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease | Sánchez-Mejías, Avencia; Núñez-Torres, Rocío; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |