Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants
Sanoguera‐Miralles, Lara, Llinares‐Burguet, Inés, Bueno‐Martínez, Elena, Ramadane‐Morchadi, Lobna, Stuani, Cristiana, Valenzuela‐Palomo, Alberto, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Buratti, Emanuele, Hoya, Miguel, Velasco‐Sampedro, Eladio A
Published in The Journal of pathology (01.04.2024)
Published in The Journal of pathology (01.04.2024)
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Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study
Rojo-Martínez, G, Valdés, S, Soriguer, F, Vendrell, J, Urrutia, I, Pérez, V, Ortega, E, Ocón, P, Montanya, E, Menéndez, E, Lago-Sampedro, A, González-Frutos, T, Gomis, R, Goday, A, García-Serrano, S, García-Escobar, E, Galán-García, J L, Castell, C, Badía-Guillén, R, Aguilera-Venegas, G, Girbés, J, Gaztambide, S, Franch-Nadal, J, Delgado, E, Chaves, F J, Castaño, L, Calle-Pascual, A
Published in Scientific reports (17.02.2020)
Published in Scientific reports (17.02.2020)
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Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants
Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Valenzuela‐Palomo, Alberto, Esteban‐Sánchez, Ada, Lorca, Víctor, Llinares‐Burguet, Inés, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Durán, Mercedes, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, Hoya, Miguel, Velasco‐Sampedro, Eladio A
Published in The Journal of pathology (01.09.2022)
Published in The Journal of pathology (01.09.2022)
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Changes in thyroid function with age: results from the Pizarra population-based longitudinal study
Lago-Sampedro, A. M, Gutiérrez-Repiso, C., Valdés, S., Maldonado, C., Colomo, N., Almaraz, M. C., Rubio-Martín, E., Morcillo, S., Esteva, I., Ruiz de Adana, M. S., Perez-Valero, V., Soriguer, F., Rojo-Martínez, G., García-Fuentes, E.
Published in International journal of clinical practice (Esher) (01.05.2015)
Published in International journal of clinical practice (Esher) (01.05.2015)
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Cost‐effectiveness analysis of dyevert™ Power XT in patients with chronic kidney disease undergoing percutaneous coronary intervention procedures in Spain
López‐Mínguez, Jose R., Martín de Francisco, A. L., Soler, M. J., Hernández, Felipe, Moreno, Raul, Pinar, Eduardo, Sampedro, A., Mareque, M., Oyagüez, I.
Published in Catheterization and cardiovascular interventions (01.08.2023)
Published in Catheterization and cardiovascular interventions (01.08.2023)
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Effect of Single Layer Centrifugation Porcicoll (70%, 80% and 90%) or supplementation with reduced glutathione, seminal plasma and bovine serum albumin on frozen-thawed boar sperm
Crespo-Félez, I., Castañeda-Sampedro, A., Sánchez, D.I., Fernández-Alegre, E., Álvarez-Rodríguez, M., Domínguez, J.C., Morrell, J.M., Martínez-Pastor, F.
Published in Animal reproduction science (01.12.2017)
Published in Animal reproduction science (01.12.2017)
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Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study
García-Escobar, E., Valdés, S., Soriguer, F., Vendrell, J., Urrutia-Etxebarria, I. M., Maldonado-Araque, C., Ortega, E., Ocón, P., Montanya, E., Menéndez, E., Lago-Sampedro, A., González-Frutos, T., Gomis, R., Goday, A., García-Serrano, S., Galán-García, J. L., Castell, C., Bordiú, E., Badía, R., Aguilera-Venegas, G., Girbés, J., Gaztambide, S., Delgado, E., Chaves, F. J., Castaño, L., Calle-Pascual, A., Rojo-Martínez, G., Franch-Nadal, J.
Published in Scientific reports (12.08.2021)
Published in Scientific reports (12.08.2021)
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Maximum adenoma diameter, regardless of uni- or bilaterality, is a risk factor for autonomous cortisol secretion in adrenal incidentalomas
Araujo-Castro, M., Robles Lázaro, C., Parra Ramírez, P., García Centeno, R., Gracia Gimeno, P., Fernández-Ladreda, M. T., Sampedro Núñez, M. A., Marazuela, M., Escobar-Morreale, H. F., Valderrabano, P.
Published in Journal of endocrinological investigation (01.11.2021)
Published in Journal of endocrinological investigation (01.11.2021)
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Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin
Srinivasan, Sundaramoorthy, Fernández-Sampedro, Miguel A., Ramon, Eva, Garriga, Pere
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2017)
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Comparing RNA extraction methods to face the variations in RNA quality using two human biological matrices
Ortega-Pinazo, J., Pacheco-Rodríguez, M. J., Serrano-Castro, P. J., Martínez, B., Pinto-Medel, M. J., Gómez-Zumaquero, J. M., Lago-Sampedro, A., García-Díaz, B., Estivill-Torrús, Guillermo, Emilio Ferro Gallego, Pedro
Published in Molecular biology reports (01.11.2023)
Published in Molecular biology reports (01.11.2023)
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Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C
Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Valenzuela-Palomo, Alberto, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, Pérez-Segura, Pedro, García-Álvarez, Alicia, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Published in Cancers (15.06.2022)
Published in Cancers (15.06.2022)
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Human Blue Cone Opsin Regeneration Involves Secondary Retinal Binding with Analog Specificity
Srinivasan, Sundaramoorthy, Fernández-Sampedro, Miguel A., Morillo, Margarita, Ramon, Eva, Jiménez-Rosés, Mireia, Cordomí, Arnau, Garriga, Pere
Published in Biophysical journal (27.03.2018)
Published in Biophysical journal (27.03.2018)
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Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis
Lupiañez, C B, Martínez-Bueno, M, Sánchez-Maldonado, J M, Badiola, J, Cunha, C, Springer, J, Lackner, M, Segura-Catena, J, Canet, L M, Alcazar-Fuoli, L, López-Nevot, M A, Fianchi, L, Aguado, J M, Pagano, L, López-Fernández, E, Alarcón-Riquelme, M, Potenza, L, Gonçalves, S M, Luppi, M, Moratalla, L, Solano, C, Sampedro, A, González-Sierra, P, Cuenca-Estrella, M, Lagrou, K, Maertens, J A, Lass-Flörl, C, Einsele, H, Vazquez, L, Loeffler, J, Ríos-Tamayo, R, Carvalho, A, Jurado, M, Sainz, J
Published in Infection and immunity (23.03.2020)
Published in Infection and immunity (23.03.2020)
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Long-term treatment with pegvisomant for acromegaly: a 10-year experience
Ramos-Leví, Ana M., Bernabeu, Ignacio, Álvarez-Escolá, Cristina, Aller, Javier, Lucas, Tomás, de Miguel, Paz, Rodríguez-Cañete, Leticia, Sampedro-Núñez, Miguel A., Halperin, Irene, Puig-Domingo, Manuel, Marazuela, Mónica
Published in Clinical endocrinology (Oxford) (01.04.2016)
Published in Clinical endocrinology (Oxford) (01.04.2016)
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Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution
Fernández-Sampedro, Miguel A, Invergo, Brandon M, Ramon, Eva, Bertranpetit, Jaume, Garriga, Pere
Published in Scientific reports (11.02.2016)
Published in Scientific reports (11.02.2016)
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COVID-19 Lockdown and Changes of the Dietary Pattern and Physical Activity Habits in a Cohort of Patients with Type 2 Diabetes Mellitus
Ruiz-Roso, María Belén, Knott-Torcal, Carolina, Matilla-Escalante, Diana C, Garcimartín, Alba, Sampedro-Nuñez, Miguel A, Dávalos, Alberto, Marazuela, Mónica
Published in Nutrients (04.08.2020)
Published in Nutrients (04.08.2020)
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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Valenzuela-Palomo, Alberto, Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, Esteban-Sánchez, Ada, Llinares-Burguet, Inés, García-Álvarez, Alicia, Pérez-Segura, Pedro, Gómez-Barrero, Susana, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Published in Cancers (19.09.2022)
Published in Cancers (19.09.2022)
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Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression
Unzu, C, Melero, I, Hervás-Stubbs, S, Sampedro, A, Mancheño, U, Morales-Kastresana, A, Serrano-Mendioroz, I, de Salamanca, R E, Benito, A, Fontanellas, A
Published in Gene therapy (01.11.2015)
Published in Gene therapy (01.11.2015)
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Seroprevalence of Leishmania infection among asymptomatic renal transplant recipients from southern Spain
Elmahallawy, E.K., Cuadros-Moronta, E., Liébana-Martos, M.C., Rodríguez-Granger, J.M., Sampedro-Martínez, A., Agil, A., Navarro-Mari, J.M., Bravo-Soto, J., Gutierrez-Fernández, J.
Published in Transplant infectious disease (01.12.2015)
Published in Transplant infectious disease (01.12.2015)
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