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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2015 | Caracterización de la interacción de EVC-EVC2 con otros complejos ciliares | Caparrós-Martín, José A. CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | póster de congreso |
| 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 |  | 2013 | Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations | Caparrós-Martín, José A. CSIC; Valencia, María CSIC; Pulido, Veronica; Ruiz-Pérez, Victor L. CSIC ORCID; Temtamy, Samia; Aglan, Mona | artículo |
| 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 |
| closedAccess |  | 2012 | Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base | Pacheco, María CSIC; Valencia, María CSIC; Caparrós-Martín, José A. CSIC; Mulero, Francisca; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCID | 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 |  | 2010 | Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Valencia, María CSIC; Letón, Rocío; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2012 | Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta | Valencia, María CSIC; Caparrós-Martín, José A. CSIC; Pulido, Veronica; 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 |
| openAccess |  | 2017 | Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Valencia, María CSIC; Nevado, Julian; Vallespin, Elena; Pozo, Angela del; Prior de Castro, Carmen; Calatrava-Ferreras, Lucia; Gutiérrez, Pilar; Bueno, Ana M.; Sagastizabal, Belen; Guillén-Navarro, Encarna; Ballesta-Martinez, Maria; Gonzalez, Vanesa; Basaran, Sarenur Y.; Buyukoglan, Ruksan; Sarikepe, Bilge; Espinoza-Valdez, Cecilia; Cammarata-Scalisi, Francisco; Martinez-Glez, Víctor; Heath, Karen E.; Lapunzina, Pablo; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2015 | Mutaciones de “splicing” en un nuevo gen ciliar como causa del síndrome de Ellis-van Creveld | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Vázquez, Laura; Nevado, Julian; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| closedAccess |  | 2012 | Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum | Puig-Hervás, Maria Trinidad; Valencia, María CSIC; Pulido, Veronica; Caparrós-Martín, José A. CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2013 | Mutations in WNT1 cause different forms of bone fragility | Caparrós-Martín, José A. CSIC; Ruiz-Pérez, Victor L. CSIC ORCID; Kornak, Uwe; Wollnik, Bernd | artículo |
