| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | abr-2022 | Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis | Lamuedra, Ana; Gratal, Paula; Calatrava-Ferreras, Lucia; Ruiz-Pérez, Victor L. CSIC ORCID; Palencia-Campos, Adrián CSIC; Portal-Núñez, Sergio; Mediero, Aranzazu; Herrero-Beaumont, Gabriel; Largo, Raquel | 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 |
| closedAccess |  | dic-2020 | Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene | Piceci-Sparascio, Francesca; Palencia-Campos, Adrián CSIC; Soto‐Bielicka, Patricia CSIC; D'Anzi, Angela; Guida, Valentina; Rosati, Jessica; Caparrós-Martín, José A. CSIC; Torrente, Isabella; D'Asdia, M. Cecilia; Versacci, Paolo; Briuglia, Silvana; Lapunzina, Pablo; Tartaglia. M.; Marino, B.; Digilio, Maria Christina; Ruiz-Pérez, Victor L. CSIC ORCID; Luca, Alessandro De | artículo |
| openAccess |  | 27-jul-2023 | EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | artículo |
| closedAccess |  | 5-nov-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome | Palencia-Campos, Adrián CSIC; Aoto, Phillip C.; Machal, Erik M.F.; Rivera-Barahona, Ana CSIC; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Hul, Wim Van; Huber, Céline; Bonneau, Dominique; Hildebrand, Michael S.; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F.; Schneider, Amy L.; Scheffer, Ingrid E.; Kibæk, Maria; Kristiansen, Britta S.; Issa, Mahmoud; Mehrez, Mennat I.; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Steen Skålhegg, Bjørn; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Jønch, Aia E.; Luca, Alessandro De; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, A.; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W.; Taylor, Susan S. T.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2017 | GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome | Palencia-Campos, Adrián CSIC; Ullah, Asmat; Nevado, Julian; Yildirim, Ruken; Unal, Edip; Ciorraga, Maria CSIC; Barruz, Pilar; Chico, Lucia; Piceci-Sparascio, Francesca; Guida, Valentina; De Luca, Alessandro; Kayserili, Hülya; Ullah, Irfan; Morales, Aixa V. CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2020 | Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B | Palencia-Campos, Adrián CSIC; Soto‐Bielicka, Patricia CSIC; Torres, Antonio; Carretero, Alba; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| openAccess | | 27-jul-2023 | Image1_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image2_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image3_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image4_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image5_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image6_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image7_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| openAccess | | 27-jul-2023 | Image8_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
| closedAccess |  | 2018 | La inactivación de GLI1 causa alteraciones del desarrollo solapantes con el Síndrome de Ellis-vanCreveld | Palencia-Campos, Adrián CSIC; Ullah, Asmat; Nevado, Julian; Yildirim, Ruken; Unal, Edip; Ciorraga, Maria CSIC; Barruz, Pilar; Chico, Lucia; Piceci-Sparascio, Francesca; Guida, Valentina; De Luca, Alessandro; Kayserili, Hülya; Ullah, Irfan; Burmeister, M.; Lapunzina, Pablo; Ahmad, W.; Morales, Aixa V. CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| openAccess | | 27-jul-2023 | Table1_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.XLSX [Dataset] | Barbeito, Pablo CSIC ORCID; Martin-Morales, Raquel CSIC ORCID; Palencia-Campos, Adrián CSIC; Cerrolaza, Juan; Rivas-Santos, Celia; Gallego-Colastra, Leticia; Caparrós-Martín, José A. CSIC; Martín Bravo, Carolina; Martín-Hurtado, Ana; Sánchez-Bellver, Laura; Marfany, Gemma; Ruiz-Pérez, Victor L. CSIC ORCID; Garcia-Gonzalo, Francesc R. CSIC ORCID | dataset |
