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openAccess267Spanish.pdf.jpg13-Jan-2016267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationDopazo, Joaquín CSIC ORCID; Rodríguez-Pérez, Juan Antonio CSIC ORCID; Daub, Josephine T. CSIC ORCID; Muntané, Gerard CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Méndez-Vidal, Cristina CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessWGS-based-pipeline.pdf.jpg4-Mar-2022A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophiesGonzález del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC; Rodríguez-de-la-Rúa-Franch, Enrique; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessgm363.pdf.jpg24-Aug-2012A map of human microRNA variation uncovers unexpectedly high levels of variabilityCarbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud CSIC ORCID; Santoyo-López, Javier; Ruiz-Ferrer, Macarena CSIC; Medina, Ignacio; Jiménez-Almazán, Jorge; Méndez-Vidal, Cristina CSIC ORCID; González-del Pozo, María; Vela, Alicia; Bhattacharya, Shom Shanker CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Dopazo, Joaquín CSIC ORCIDartículo
openAccessRetinal_Dystrophies.pdf.jpg8-Dec-2020A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes IdentificationMartín-Sánchez, Marta CSIC; Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccess2022 Clin Genet 101-481.pdf.jpgMay-2022CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiativeLuque, 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 ORCID; 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 Belén CSIC ORCID; 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
openAccessExpanding_FCDB_2023_OA.pdf.jpg21-Jul-2023Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variantFernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpgJun-2023Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR studyPuppo-Moreno, Antonio; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Adsuar-Gómez, Alejandro; Gómez Ruiz, Tadeo F.; Jiménez De Juan, Carlos; Fernández García, Raquel M.; Martín-Bermúdez, Rafael; López Sánchez, José María CSIC ORCID; Martín Sastre, Sara; Fernández Caro, Manuel; Gallego, Pastora; Borrego, Salud CSIC ORCIDartículo
openAccessImage1_Expanding the phenotype of THRB_ a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing varia.PDF.jpg21-Jul-2023Image1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDFFernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDdataset
openAccesssrep23910.pdf.jpg1-Apr-2016Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panelBravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Romero-Pérez, Laura CSIC ORCID; González del Pozo, María CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Dopazo, Joaquín CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccessMalignant_transformation_2009.pdf.jpg15-Jul-2009Induction of Dlk1 by PTTG1 Inhibits Adipocyte Differentiation and Correlates with Malignant TransformationEspina, Águeda G. CSIC; Méndez-Vidal, Cristina CSIC ORCID; Moreno-Mateos, Miguel A. CSIC ORCID; Sáez, Carmen CSIC ORCID; Romero-Franco, Ana CSIC; Japón, Miguel A. CSIC ORCID; Pintor-Toro, José Antonio CSIC ORCIDartículo
openAccessspectrum_semaphorin_3A_Luzon.pdf.PDF.jpg23-Jan-2013Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patientsLuzón-Toro, Berta CSIC; Fernández, Raquel M. CSIC ORCID; Torroglosa, Ana CSIC ORCID; Agustín, Juan Carlos de; Méndez-Vidal, Cristina CSIC ORCID; Segura, Dolores Isabel; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCIDartículo
openAccessNovel_small_RNA_MorenoMateos.pdf.jpg15-Oct-2013Novel small RNA expression libraries uncover hsa-miR-30b and hsa-miR-30c as important factors in anoikis resistanceMoreno-Mateos, Miguel A. CSIC ORCID; Barragán, Verónica CSIC; Torres, Belén CSIC; Rodríguez-Mateo, Cristina CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Berezikov, Eugene; Mudduluru, Giridhar; Allgayer, Heike; Pintor-Toro, José Antonio CSIC ORCIDartículo
openAccess3-May-2012Novel small RNAs expresión libraries uncover hsa-mir30c and hsa-mir30b as key factors in anoikis resistanceMoreno-Mateos, Miguel A. CSIC ORCID; Barragán, Verónica CSIC; Torres, Belén CSIC; Méndez-Vidal, Cristina CSIC ORCID; Pintor-Toro, José Antonio CSIC ORCIDpóster de congreso
openAccessPTTG2_silencing_results_MendezVidal.pdf.jpg7-Mar-2013PTTG2 silencing results in induction of epithelial-to-mesenchymal transition and apoptosisMéndez-Vidal, Cristina CSIC ORCID; Gámez del Estal, María del Mar CSIC; Moreno-Mateos, Miguel A. CSIC ORCID; Espina, Águeda G. CSIC; Torres, Belén CSIC; Pintor-Toro, José Antonio CSIC ORCIDartículo
openAccessLibroAbstractsSEBC2011_85.pdf.jpg12-Dec-2011PTTG2 Silencing results in loss of cell adhesion and apoptosis in adenocarcinoma HCT116 cellsGámez del Estal, María del Mar CSIC; Méndez-Vidal, Cristina CSIC ORCID; Pintor-Toro, José Antonio CSIC ORCIDcomunicación de congreso
openAccesss41598-018-31511-5.pdf.jpg6-Sep-2018Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencingGonzález del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Chimenea, Ángel CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
openAccess21-Jul-2023Table1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.XLSXFernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDdataset
openAccessTable2_Expanding the phenotype of THRB_ a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing varia.PDF.jpg21-Jul-2023Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDFFernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDdataset
openAccessTable3_Expanding the phenotype of THRB_ a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing varia.pdf.jpg21-Jul-2023Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdfFernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDdataset
openAccessoligogenic_variants.pdf.jpg12-Feb-2020Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variantsGonzález del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Martín-Sánchez, Marta CSIC; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo