Mostrando resultados 7 a 19 de 19
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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 |  | 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 |
