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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
| closedAccess |  | 2015 | Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability | Mattos, Eduardo P.; Torreblanca-Zanca, Albertina CSIC; Ruiz-Pérez, Victor L. CSIC ORCID; Sanseverino, Maria Teresa V. | 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 |
| closedAccess |  | 5-nov-2020 | Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2 | Van Dijk, Fleur S.; Semler, Oliver; Etich, Julia; Köhler, Anna; Jiménez-Estrada, Juan Andrés CSIC; Bravenboer, Nathalie; Claeys, Lauria; Riesebos, Elise; Gegic, Sejla; Piersma, Sander R.; Jimenez, Connie R.; Waisfisz, Quinten; Flores, Carmen-Lisset CSIC ORCID; Nevado, Julian; Harsevoort, Arjan J.; Janus, Guus J. M.; Franken, Anton A. M.; Van der Sar, Astrid M.; Meijers-Heijboer, Hanne; Heath, Karen E.; Lapunzina, Pablo; Nikkels, Peter G. J.; Santen, Gijs W. E.; Nüchel, Julian; Plomann, Markus; Wagener, Raimund; Rehberg, Mirko; Hoyer-Kuhn, Heike; Eekhoff, Elisabeth M. W.; Pals, Gerard; Mörgelin, Matthias; Newstead, Simon; Wilson, Brian T.; Ruiz-Pérez, Victor L. CSIC ORCID; Maugeri, Alessandra; Netzer, Christian; Zaucke, Frank; Micha, Dimitra | artículo |
| closedAccess |  | 2008 | Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence | Valencia, María CSIC; Pacheco, María CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| 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 |  | 2019 | MRX93 syndrome (BRWD3 gene): five new patients with novel mutations | Tenorio, Jair; Alarcón, Pedro; Arias, Pedro; Ramos, Feliciano J.; Campistol, Jaume; Climent, Salvador; García-Miñaur, Sixto; Dapía, Irene; Hernández, Alicia; Nevado, Julian; Solís, Mario; Ruiz-Pérez, Victor L. CSIC ORCID; Sogri Consortium; Lapunzina, Pablo | 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 |  | 2018 | Mutaciones en FAM46A en un paciente con osteogénesis imperfecta | Ruiz-Pérez, Victor L. CSIC ORCID; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Lapunzina, Pablo | póster 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 |  | 6-oct-2022 | Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia | Iturrate, Asier; Rivera-Barahona, Ana CSIC; Flores, Carmen-Lisset CSIC ORCID; Otaify, Ghada A.; Elhossini, Rasha; Perez-Sanz, Marina L.; Nevado, Julian; Tenorio, Jair; Triviño, Juan Carlos; Garcia-Gonzalo, Francesc R. CSIC ORCID; Piceci-Sparascio, Francesca; Luca, Alessandro De; Martínez, Leopoldo; Kalaycı, Tugba; Lapunzina, Pablo; Altunoglu, Umut; Aglan, Mona; Abdalla, Ebtesam; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
