| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2014 | BMP1 mutations in autosomal recessive osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Valencia, María CSIC; Aglan, Mona; Temtamy, Samia; Ruiz-Pérez, Victor L. CSIC ORCID | capítulo de libro |
| 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 |
| openAccess |  | 24-may-2022 | Effects of IQM-110 on Kv1.5/Kvß2.1 channels | Valencia, María CSIC; Benito-Bueno, Ángela de CSIC ORCID; Socuéllamos, Paula G. CSIC ORCID; Bonache de Marcos, María Ángeles CSIC ORCID ; Viedma, Carmen CSIC; Martín-Martínez, Mercedes CSIC ORCID; Gutiérrez-Rodríguez, Marta CSIC ORCID ; Valenzuela, Carmen CSIC ORCID CVN | comunicación de congreso |
| closedAccess |  | 2012 | Estudio de las bases moleculares de los síndromes de Ellis-van Creveld y Weyers acrofacial dysostosis y análisis del papel de Evc en la placa de crecimiento | Valencia, María CSIC | tesis doctoral |
| 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 |
| 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 |  | 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 |  | 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 |  | 2014 | OSX/SP7 mutations and osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | capítulo de libro |
| openAccess |  | 2017 | Phenotypic variation in patients with homozygous c.1678G>T mutation in EVC gene: Report of two mexican families with Ellis-van Creveld syndrome | Ibarra-Ramirez, Marisol; Campos-Acevedo, Luis Daniel; Lugo-Trampe, Jose; Martínez-Garza, Laura E.; Martinez-Glez, Víctor; Valencia, María CSIC; Lapunzina, Pablo; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2014 | Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects | Valencia, María CSIC; Caparrós-Martín, José A. CSIC; García-Verdugo, José Manuel; Temtamy, Samia; Aglan, Mona; Ruiz-Pérez, Victor L. CSIC ORCID; Ostergaard, Elsebet | artículo |
| closedAccess |  | 2015 | Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Valencia, María CSIC; Vázquez, Laura; Nevado, Julian; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2013 | The ciliary EVC/EVC2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia | Caparrós-Martín, José A. CSIC; Valencia, María CSIC; Reytor, Edel CSIC; Pacheco, María CSIC; Fernández, Margarita CSIC ORCID; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2014 | Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta | Guillén-Navarro, Encarna; Valencia, María CSIC; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2009 | Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling | Valencia, María CSIC; Martínez-Frías, María Luisa; Goodship, Judith A.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
