MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function
Miñones-Moyano, Elena, Porta, Sílvia, Escaramís, Georgia, Rabionet, Raquel, Iraola, Susana, Kagerbauer, Birgit, Espinosa-Parrilla, Yolanda, Ferrer, Isidre, Estivill, Xavier, Martí, Eulàlia
Published in Human molecular genetics (01.08.2011)
Published in Human molecular genetics (01.08.2011)
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Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
Domènech, Laura, Willis, Jesse, Alemany-Navarro, Maria, Morell, Marta, Real, Eva, Escaramís, Geòrgia, Bertolín, Sara, Sánchez Chinchilla, Daniel, Balcells, Susanna, Segalàs, Cinto, Estivill, Xavier, Menchón, Jose M, Gabaldón, Toni, Alonso, Pino, Rabionet, Raquel
Published in Scientific reports (27.01.2022)
Published in Scientific reports (27.01.2022)
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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Rabionet, Raquel, Remesal, Agustín, Mensa-Vilaró, Anna, Murías, Sara, Alcobendas, Rosa, González-Roca, Eva, Ruiz-Ortiz, Estibaliz, Antón, Jordi, Iglesias, Estibaliz, Modesto, Consuelo, Comas, David, Puig, Anna, Drechsel, Oliver, Ossowski, Stephan, Yagüe, Jordi, Merino, Rosa, Estivill, Xavier, Arostegui, Juan I
Published in Scientific reports (14.03.2019)
Published in Scientific reports (14.03.2019)
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Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene
Published in Orphanet journal of rare diseases (19.02.2022)
Published in Orphanet journal of rare diseases (19.02.2022)
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Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures
Garcia-Giralt, Natalia, Ovejero, Diana, Grinberg, Daniel, Nogues, Xavier, Castañeda, Santos, Balcells, Susanna, Rabionet, Raquel
Published in Human genomics (15.08.2024)
Published in Human genomics (15.08.2024)
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Variants at APOE influence risk of deep and lobar intracerebral hemorrhage
Biffi, Alessandro, Sonni, Akshata, Anderson, Christopher D., Kissela, Brett, Jagiella, Jeremiasz M., Schmidt, Helena, Jimenez-Conde, Jordi, Hansen, Björn M., Fernandez-Cadenas, Israel, Cortellini, Lynelle, Ayres, Alison, Schwab, Kristin, Juchniewicz, Karol, Urbanik, Andrzej, Rost, Natalia S., Viswanathan, Anand, Seifert-Held, Thomas, Stoegerer, Eva-Maria, Tomás, Marta, Rabionet, Raquel, Estivill, Xavier, Brown, Devin L., Silliman, Scott L., Selim, Magdy, Worrall, Bradford B., Meschia, James F., Montaner, Joan, Lindgren, Arne, Roquer, Jaume, Schmidt, Reinhold, Greenberg, Steven M., Slowik, Agnieszka, Broderick, Joseph P., Woo, Daniel, Rosand, Jonathan
Published in Annals of neurology (01.12.2010)
Published in Annals of neurology (01.12.2010)
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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
Martín-Nalda, Andrea, Fortuny, Claudia, Rey, Lourdes, Bunney, Tom D., Alsina, Laia, Esteve-Solé, Ana, Bull, Daniel, Anton, Maria Carmen, Basagaña, María, Casals, Ferran, Deyá, Angela, García-Prat, Marina, Gimeno, Ramon, Juan, Manel, Martinez-Banaclocha, Helios, Martinez-Garcia, Juan J, Mensa-Vilaró, Anna, Rabionet, Raquel, Martin-Begue, Nieves, Rudilla, Francesc, Yagüe, Jordi, Estivill, Xavier, García-Patos, Vicente, Pujol, Ramon M., Soler-Palacín, Pere, Katan, Matilda, Pelegrín, Pablo, Colobran, Roger, Vicente, Asun, Arostegui, Juan I.
Published in Journal of clinical immunology (01.10.2020)
Published in Journal of clinical immunology (01.10.2020)
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Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures
Ugartondo, Nerea, Martínez-Gil, Núria, Esteve, Mònica, Garcia-Giralt, Natàlia, Roca-Ayats, Neus, Ovejero, Diana, Nogués, Xavier, Díez-Pérez, Adolfo, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Published in International journal of molecular sciences (09.07.2021)
Published in International journal of molecular sciences (09.07.2021)
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Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
Susak, Hana, Serra-Saurina, Laura, Demidov, German, Rabionet, Raquel, Domènech, Laura, Bosio, Mattia, Muyas, Francesc, Estivill, Xavier, Escaramís, Geòrgia, Ossowski, Stephan
Published in PLoS computational biology (01.02.2021)
Published in PLoS computational biology (01.02.2021)
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APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study
Biffi, Alessandro, MD, Anderson, Christopher D, MD, Jagiella, Jeremiasz M, MD, Schmidt, Helena, MD, Kissela, Brett, MD, Hansen, Björn M, MD, Jimenez-Conde, Jordi, MD, Pires, Caroline R, BA, Ayres, Alison M, BA, Schwab, Kristin, BA, Cortellini, Lynelle, MSc, Pera, Joanna, MD, Urbanik, Andrzej, MD, Romero, Javier M, MD, Rost, Natalia S, MD, Goldstein, Joshua N, MD, Viswanathan, Anand, MD, Pichler, Alexander, MD, Enzinger, Christian, MD, Rabionet, Raquel, PhD, Norrving, Bo, MD, Tirschwell, David L, MD, Selim, Magdy, MD, Brown, Devin L, MD, Silliman, Scott L, MD, Worrall, Bradford B, MD, Meschia, James F, MD, Kidwell, Chelsea S, MD, Broderick, Joseph P, MD, Greenberg, Steven M, MD, Roquer, Jaume, MD, Lindgren, Arne, MD, Slowik, Agnieszka, MD, Schmidt, Reinhold, MD, Woo, Daniel, MD, Rosand, Jonathan, Dr
Published in Lancet neurology (01.08.2011)
Published in Lancet neurology (01.08.2011)
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Cluster analysis of clinical data identifies fibromyalgia subgroups
Docampo, Elisa, Collado, Antonio, Escaramís, Geòrgia, Carbonell, Jordi, Rivera, Javier, Vidal, Javier, Alegre, José, Rabionet, Raquel, Estivill, Xavier
Published in PloS one (30.09.2013)
Published in PloS one (30.09.2013)
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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
Castilla-Vallmanya, Laura, Gürsoy, Semra, Giray-Bozkaya, Özlem, Prat-Planas, Aina, Bullich, Gemma, Matalonga, Leslie, Centeno-Pla, Mónica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna, Urreizti, Roser
Published in International journal of molecular sciences (04.02.2021)
Published in International journal of molecular sciences (04.02.2021)
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Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study
Alemany-Navarro, María, Cruz, Raquel, Real, Eva, Segalàs, Cinto, Bertolín, Sara, Rabionet, Raquel, Carracedo, Ángel, Menchón, Jose M, Alonso, Pino
Published in Translational psychiatry (18.05.2020)
Published in Translational psychiatry (18.05.2020)
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Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment
Garcia-Giralt, Natalia, Roca-Ayats, Neus, Abril, Josep F, Martinez-Gil, Nuria, Ovejero, Diana, Castañeda, Santos, Nogues, Xavier, Grinberg, Daniel, Balcells, Susanna, Rabionet, Raquel
Published in Genes (14.01.2022)
Published in Genes (14.01.2022)
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On the association between Chiari malformation type 1, bone mineral density and bone related genes
Martínez-Gil, Núria, Mellibovsky, Leonardo, Manzano-López González, Demián, Patiño, Juan David, Cozar, Monica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Published in Bone Reports (01.06.2022)
Published in Bone Reports (01.06.2022)
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Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome
Prasad, Aparna, Rabionet, Raquel, Espinet, Blanca, Zapata, Luis, Puiggros, Anna, Melero, Carme, Puig, Anna, Sarria-Trujillo, Yaris, Ossowski, Stephan, Garcia-Muret, Maria P., Estrach, Teresa, Servitje, Octavio, Lopez-Lerma, Ingrid, Gallardo, Fernando, Pujol, Ramon M., Estivill, Xavier
Published in Journal of investigative dermatology (01.07.2016)
Published in Journal of investigative dermatology (01.07.2016)
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Functional characterization of CYP1A1 variants identified in patients who sustained bisphosphonate-related atypical femoral fractures
Ugartondo, Nerea, Esteve, Monica, Garcia-Giralt, Natalia, Martinez-Gil, Nuria, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Published in Bone Reports (01.04.2021)
Published in Bone Reports (01.04.2021)
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Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci
Martínez‐Gil, Núria, Ovejero, Diana, Garcia‐Giralt, Natalia, Bruque, Carlos David, Mellibovsky, Leonardo, Nogués, Xavier, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Published in JBMR plus (01.04.2022)
Published in JBMR plus (01.04.2022)
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PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data
Escaramís, Geòrgia, Tornador, Cristian, Bassaganyas, Laia, Rabionet, Raquel, Tubio, Jose M C, Martínez-Fundichely, Alexander, Cáceres, Mario, Gut, Marta, Ossowski, Stephan, Estivill, Xavier
Published in PloS one (21.05.2013)
Published in PloS one (21.05.2013)
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