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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 13-ene-2016 | 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation | Dopazo, Joaquín CSIC ORCID; Rodríguez-Pérez, Juan Antonio CSIC ORCID; Daub, Josephine T. CSIC ORCID; Muntané, Gerard CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Méndez-Vidal, Cristina CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| 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 |
| openAccess |  | 4-mar-2022 | A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies | González del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 24-ago-2012 | A map of human microRNA variation uncovers unexpectedly high levels of variability | Carbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud CSIC ORCID; Santoyo-López, Javier; Ruiz-Ferrer, Macarena CSIC; Medina, Ignacio; Jiménez-Almazán, Jorge; Méndez-Vidal, Cristina CSIC ORCID; González-del Pozo, María; Vela, Alicia; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCID | artículo |
| openAccess |  | 8-dic-2020 | A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification | Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| 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 |
| 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 |  | 6-may-2013 | Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease | Jannot, Anne-Sophie; Borrego, Salud CSIC ORCID; Lyonnet, Stanislas | artículo |
| openAccess |  | may-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan M. CSIC; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz CSIC ORCID; Heredia, Miguel CSIC; Lopez Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pia; Artuch, Rafael; Fillat, Cristina CSIC; Pérez-Jurado, Luis Alberto; Montoliu, Lluís CSIC ORCID ; Carracedo, Ángel; Millán, José María; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo; Albiñana, Virginia CSIC; Arjona, Emilia CSIC ORCID ; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID ; Pinto, Sheila CSIC; Rodríguez de Córdoba, Santiago ; Ruiz, Ángela; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID; Bravo-Gil, Nereida CSIC; González-del Pozo, María; Méndez-Vidal, Cristina CSIC ORCID; Arbones, Maria L. CSIC ORCID ; Caparrós-Martín, José A. CSIC; Cediel, Rafael CSIC; Contreras, Julio CSIC; Estañ, María Cristina CSIC; Guerrero-López, Rosa CSIC; Jiménez-Estrada, Juan Andrés CSIC; Manguan-García, Cristina CSIC ORCID; Murillo-Cuesta, Silvia CSIC ORCID; Palencia-Campos, Adrián CSIC; Perona Abellón, Rosario CSIC ORCID; Rivera-Barahona, Ana CSIC; Rodriguez-de la Rosa, Lourdes CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID; Sastre, Leandro CSIC ORCID; Valencia, María CSIC; Varela-Nieto, Isabel CSIC ORCID ; Cervera, Javier; Cima, Sergio de CSIC ORCID; Gougeard, Nadine CSIC ORCID; Heredia, Miguel CSIC; Llácer, José Luis CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Marina, Alberto CSIC ORCID ; Mollá, Belén CSIC ORCID; Moreno-Estellés, Mireia CSIC ORCID; Pérez-Jiménez, Eva CSIC ORCID; Rubio, Vicente CSIC ORCID ; Sanz, Pascual CSIC ORCID ; Cortés-Rodríguez, Ana; Navas, Plácido CSIC ORCID; Sánchez Cuesta, Ana María; Santos-Ocaña, Carlos CSIC ORCID ; Fraga, Mario F. CSIC ORCID; Nieto, M. Ángela CSIC ORCID | artículo de revisión |
| 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 |  | 2011 | Copy-number variations in EYS: a significant event in the appearance of arRP | Pieras, Juan Ignacio; Barragán, Isabel; Borrego, Salud CSIC ORCID; Audo, Isabelle; González del Pozo, María CSIC ORCID; Bernal, Sara; Baiget, Montserrat; Zeitz, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 8-ene-2021 | CSVS, a crowdsourcing database of the Spanish population genetic variability | Peña-Chilet, María CSIC ORCID; Roldán, Gema; Pérez-Florido, Javier CSIC; Ortuño, Francisco M. CSIC; Carmona, Rosario CSIC ORCID; Aquino, Virginia; López-López, Daniel CSIC ORCID; Loucera, Carlos CSIC ORCID; Fernández-Rueda, José L.; Gallego, Asunción; García-García, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Mínguez, Pablo; Ávila-Fernández, Almudena; Cortón, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Álvaro; López-Escamez, José A.; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sánchez, Sara; Morte, Beatriz CSIC ORCID; Spanish Exome Crowdsourcing Consortium; Carracedo, Ángel; Alonso, Ángel; Dopazo, Joaquín CSIC ORCID | artículo |
| closedAccess |  | feb-2013 | Differential Gene Expression of Medullary Thyroid Carcinoma Reveals Specific Markers Associated with Genetic Conditions | Maliszewska, Agnieszka; Borrego, Salud CSIC ORCID; Robledo, Mercedes | 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 |
| 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 |  | mar-2019 | Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome. A case report | Bravo-Gil, Nereida CSIC; Marcos Luque, Irene CSIC; González-Meneses, Antonio; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
| openAccess |  | 21-jul-2023 | Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 12-ago-2011 | Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR | Ruiz-Ferrer, Macarena CSIC; Torroglosa, Ana CSIC ORCID; Núñez-Torres, Rocío; Agustín, Juan Carlos de; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo |
