Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data
Lahuerta Pueyo, Carmen, Aibar Arregui, Miguel Ángel, Gracia Gutierrez, Anyuli, Bueno Juana, Esperanza, Menao Guillén, Sebastián
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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Study of Cellular Aging in a Cohort of Patients with Heart Failure
Elena, Bularca, María Izarbe, Merino-Casallo, Susana, Olivera-González, Sebastián, Menao-Guillén, José Luis, Sierra-Monzón, José María, Domingo-Morera, Miguel Ángel, Torralba-Cabeza
Published in High blood pressure & cardiovascular prevention (2021)
Published in High blood pressure & cardiovascular prevention (2021)
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Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin
Fernández-Gomez, Beatriz, Menao-Guillén, Sebastian, Fernandez Gonzalez, Ayla, Arruebo Muñio, Maria, Ramos Alvarez, Monica, Inda Landaluce, Mercedes, Castillo Arce, Maria Angeles, Torralba-Cabeza, Miguel Ángel
Published in Diagnostics (Basel) (28.08.2023)
Published in Diagnostics (Basel) (28.08.2023)
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Coexistence of Positive ^(99m)Tc-DPD Scintigraphy and Monoclonal Gammopathy: A Frequent Challenge
Ana Roteta Unceta Barrenechea, Jorge Melero Polo, Alejandro Andrés Gracia, Pablo Revilla Martí, Sebastian Menao Guillén, Carmen Lahuerta Pueyo, Raquel Pérez-Palacios, Inmaculada Moreno Gázquez, Anyuli Gracia Gutiérrez, Miguel Ángel Aibar Arregui
Published in Acta Cardiologica Sinica (01.03.2022)
Published in Acta Cardiologica Sinica (01.03.2022)
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Effect of Surface Chemistry and Associated Protein Corona on the Long-Term Biodegradation of Iron Oxide Nanoparticles In Vivo
Stepien, Grazyna, Moros, María, Pérez-Hernández, Marta, Monge, Marta, Gutiérrez, Lucía, Fratila, Raluca M, las Heras, Marcelo de, Menao Guillén, Sebastián, Puente Lanzarote, Juan José, Solans, Conxita, Pardo, Julián, de la Fuente, Jesús Martínez
Published in ACS applied materials & interfaces (07.02.2018)
Published in ACS applied materials & interfaces (07.02.2018)
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Coexistence of Positive ⁹⁹ᵐTc-DPD Scintigraphy and Monoclonal Gammopathy: A Frequent Challenge
Roteta Unceta-Barrenechea, Ana, Melero Polo, Jorge, Andrés Gracia, Alejandro, Revilla Martí, Pablo, Menao Guillén, Sebastian, Lahuerta Pueyo, Carmen, Pérez-Palacios, Raquel, Moreno Gázquez, Inmaculada, Gutiérrez, Anyuli Gracia, Aibar Arregui, Miguel Ángel
Published in Acta Cardiologica Sinica (01.03.2022)
Published in Acta Cardiologica Sinica (01.03.2022)
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Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis
Alonso, Natalia, Menao, Sebastián, Lastra, Rodrigo, Arruebo, María, Bueso, María P, Pérez, Esther, Murillo, M Laura, Álvarez, María, Alonso, Alba, Rebollar, Soraya, Cruellas, Mara, Arribas, Dolores, Ramos, Mónica, Isla, Dolores, Galano-Frutos, Juan José, García-Cebollada, Helena, Sancho, Javier, Andrés, Raquel
Published in Frontiers in genetics (27.02.2024)
Published in Frontiers in genetics (27.02.2024)
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Elucidating Sources and Roles of Granzymes A and B during Bacterial Infection and Sepsis
Arias, Maykel A., Jiménez de Bagües, María P., Aguiló, Nacho, Menao, Sebastián, Hervás-Stubbs, Sandra, de Martino, Alba, Alcaraz, Ana, Simon, Markus M., Froelich, Christopher J., Pardo, Julián
Published in Cell reports (Cambridge) (24.07.2014)
Published in Cell reports (Cambridge) (24.07.2014)
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Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis
Moreno-Gázquez, Inmaculada, Pérez-Palacios, Raquel, Abengochea-Quílez, Lucia, Lahuerta Pueyo, Carmen, Roteta Unceta Barrenechea, Ana, Andrés Gracia, Alejandro, Aibar Arregui, Miguel Angel, Menao Guillén, Sebastián
Published in BMC research notes (02.10.2023)
Published in BMC research notes (02.10.2023)
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Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting
Lahuerta, Carmen, Menao, Sebastián, Gracia-Gutierrez, Anyuli, Bueno-Juana, Esperanza, Guillén, Natalia, Sorribas, Víctor, Gracia, Alejandro Andrés, Aibar, Miguel A.
Published in International journal of cardiology (15.02.2020)
Published in International journal of cardiology (15.02.2020)
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Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin: a comment
Roteta Unceta Barrenechea, Ana, Aibar Arregui, Miguel Ángel, Andrés Gracia, Alejandro, Melero Polo, Jorge, Lahuerta Pueyo, Carmen, Menao Guillén, Sebastián, Torralba Cabeza, Miguel Ángel
Published in Amyloid (02.04.2020)
Published in Amyloid (02.04.2020)
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Multiparametric analysis of anti-proliferative and apoptotic effects of gold nanoprisms on mouse and human primary and transformed cells, biodistribution and toxicity in vivo
Pérez-Hernández, Marta, Moros, María, Stepien, Grazyna, Del Pino, Pablo, Menao, Sebastián, de Las Heras, Marcelo, Arias, Maykel, Mitchell, Scott G, Pelaz, Beatriz, Gálvez, Eva M, de la Fuente, Jesús M, Pardo, Julián
Published in Particle and fibre toxicology (26.10.2017)
Published in Particle and fibre toxicology (26.10.2017)
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Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report
Andrés, Raquel, Menao, Sebastian, Arruebo, María, Quílez, Elisa, Cardiel, Maria José
Published in Breast cancer research and treatment (01.10.2019)
Published in Breast cancer research and treatment (01.10.2019)
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Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson–Fabry's disease
Olivera, Susana, Iñiguez, Cristina, García-Fernández, Lorena, Sierra, José-Luis, Camón, Ana-María, Menao, Sebastián, Torralba, Miguel-Ángel
Published in Multiple sclerosis and related disorders (01.02.2020)
Published in Multiple sclerosis and related disorders (01.02.2020)
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Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol
Arnedo, María, Menao, Sebastián, Puisac, Beatriz, Teresa-Rodrigo, María E., Gil-Rodríguez, María C., López-Viñas, Eduardo, Gómez-Puertas, Paulino, Casals, Nuria, Casale, César H., Hegardt, Fausto G., Pié, Juan
Published in Journal of lipid research (01.10.2012)
Published in Journal of lipid research (01.10.2012)
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New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
Ramos, Mónica, Menao, Sebastián, Arnedo, María, Puisac, Beatriz, Gil-Rodríguez, María Concepción, Teresa-Rodrigo, María Esperanza, Hernández-Marcos, María, Pierre, Germaine, Ramaswami, Uma, Baquero-Montoya, Carolina, Bueno, Gloria, Casale, Cesar, Hegardt, Fausto G, Gómez-Puertas, Paulino, Pié, Juan
Published in European journal of medical genetics (01.08.2013)
Published in European journal of medical genetics (01.08.2013)
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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway
Puisac, Beatriz, Ramos, Mónica, Arnedo, María, Menao, Sebastián, Gil-Rodríguez, María Concepción, Teresa-Rodrigo, María Esperanza, Pié, Angeles, de Karam, Juan Carlos, Wesselink, Jan-Jaap, Giménez, Ignacio, Ramos, Feliciano J., Casals, Nuria, Gómez-Puertas, Paulino, Hegardt, Fausto G., Pié, Juan
Published in Molecular biology reports (01.04.2012)
Published in Molecular biology reports (01.04.2012)
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Molecular genetics of HMG-CoA lyase deficiency
Pié, Juan, López-Viñas, Eduardo, Puisac, Beatriz, Menao, Sebastián, Pié, Angeles, Casale, Cesar, Ramos, Feliciano J., Hegardt, Fausto G., Gómez-Puertas, Paulino, Casals, Núria
Published in Molecular genetics and metabolism (01.11.2007)
Published in Molecular genetics and metabolism (01.11.2007)
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