Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

por Luzón-Toro, Berta, Espino-Paisán, Laura, Fernández, Raquel Ma., Martín-Sánchez, Marta, Antiñolo, Guillermo, Borrego, Salud
Publicado 2015

Polymorphisms in ARNTL/BMAL1 and CLOCK Are Not Associated with Multiple Sclerosis in Spanish Population

por de Rojas, Isabel, Martin-Montero, César, Fedetz, Maria, González-Jiménez, Adela, Matesanz, Fuencisla, Urcelay, Elena, Espino-Paisán, Laura
Publicado 2022

Aqueous Humor Cytokine Profile in Primary Congenital Glaucoma

por Oribio-Quinto, Carlos, Burgos-Blasco, Barbara, Pérez-García, Pilar, Espino-Paisán, Laura, Sarriá, Beatriz, Fernández-Vigo, José Ignacio, García-Feijóo, Julian
Publicado 2023

Unraveling the Influence of HHEX Risk Polymorphism rs7923837 on Multiple Sclerosis Pathogenesis

por González-Jiménez, Adela, López-Cotarelo, Pilar, Agudo-Jiménez, Teresa, Martínez-Ginés, Marisa, García-Domínguez, Jose Manuel, Urcelay, Elena, Espino-Paisán, Laura
Publicado 2022

Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients

por López-Cotarelo, Pilar, González-Jiménez, Adela, Agudo-Jiménez, Teresa, Abarca-Zabalía, Judith, Aladro, Yolanda, Pilo, Belén, Comabella, Manuel, Espino-Paisán, Laura, Urcelay, Elena
Publicado 2021

Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation

por González-Jiménez, Adela, López-Cotarelo, Pilar, Agudo-Jiménez, Teresa, Casanova, Ignacio, de Silanes, Carlos López, Martín-Requero, Ángeles, Matesanz, Fuencisla, Urcelay, Elena, Espino-Paisán, Laura
Publicado 2022

Alterations in the immune system persist after one year of convalescence in severe COVID-19 patients

por Abarca-Zabalía, Judith, González-Jiménez, Adela, Calle-Rubio, Myriam, López-Pastor, Andrea R., Fariña, Tomás, Ramos-Acosta, Carlos, Anguita, Eduardo, Urcelay, Elena, Espino-Paisán, Laura
Publicado 2023

Hypercytokinemia in COVID-19: Tear cytokine profile in hospitalized COVID-19 patients

por Burgos-Blasco, Barbara, Güemes-Villahoz, Noemi, Santiago, Jose Luis, Fernandez-Vigo, Jose Ignacio, Espino-Paisán, Laura, Sarriá, Beatriz, García-Feijoo, Julian, Martinez-de-la-Casa, Jose Maria
Publicado 2020

CX3CL1–CX3CR1 Axis: A New Player in Coeliac Disease Pathogenesis

por Fernández-Prieto, Marta, Fernández-Aceñero, María Jesús, López-Palacios, Natalia, Bodas, Andrés, Farrais, Sergio, Cuevas, David, Pascual, Virginia, Cerón-Nieto, M. Ángeles, Horta-Herrera, Saúl, Espino-Paisán, Laura, Salazar, Isabel, Núñez, Concepción
Publicado 2019

A Polymorphism Within the MBP Gene Is Associated With a Higher Relapse Number in Male Patients of Multiple Sclerosis

por Espino-Paisán, Laura, Agudo-Jiménez, Teresa, Rosales-Martínez, Isabel, López-Cotarelo, Pilar, García-Martínez, María Ángel, Domínguez-Mozo, María Inmaculada, Pérez-Pérez, Silvia, Dieli-Crimi, Romina, Comabella, Manuel, Urcelay, Elena, Álvarez-Lafuente, Roberto
Publicado 2020

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

por Luzón-Toro, Berta, Gui, Hongsheng, Ruiz-Ferrer, Macarena, Sze-Man Tang, Clara, Fernández, Raquel M., Sham, Pak-Chung, Torroglosa, Ana, Kwong-Hang Tam, Paul, Espino-Paisán, Laura, Cherny, Stacey S., Bleda, Marta, Enguix-Riego, María del Valle, Dopazo, Joaquín, Antiñolo, Guillermo, García-Barceló, María-Mercé, Borrego, Salud
Publicado 2015

Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

por Gil-Varea, Elia, Urcelay, Elena, Vilariño-Güell, Carles, Costa, Carme, Midaglia, Luciana, Matesanz, Fuencisla, Rodríguez-Antigüedad, Alfredo, Oksenberg, Jorge, Espino-Paisan, Laura, Dessa Sadovnick, A., Saiz, Albert, Villar, Luisa M., García-Merino, Juan Antonio, Ramió-Torrentà, Lluís, Triviño, Juan Carlos, Quintana, Ester, Robles, René, Sánchez-López, Antonio, Arroyo, Rafael, Alvarez-Cermeño, Jose C., Vidal-Jordana, Angela, Malhotra, Sunny, Fissolo, Nicolas, Montalban, Xavier, Comabella, Manuel
Publicado 2018

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

por Gómez-Fernández, Paloma, Lopez de Lapuente Portilla, Aitzkoa, Astobiza, Ianire, Mena, Jorge, Urtasun, Andoni, Altmann, Vivian, Matesanz, Fuencisla, Otaegui, David, Urcelay, Elena, Antigüedad, Alfredo, Malhotra, Sunny, Montalban, Xavier, Castillo-Triviño, Tamara, Espino-Paisán, Laura, Aktas, Orhan, Buttmann, Mathias, Chan, Andrew, Fontaine, Bertrand, Gourraud, Pierre-Antoine, Hecker, Michael, Hoffjan, Sabine, Kubisch, Christian, Kümpfel, Tania, Luessi, Felix, Zettl, Uwe K., Zipp, Frauke, Alloza, Iraide, Comabella, Manuel, Lill, Christina M., Vandenbroeck, Koen
Publicado 2020

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

por Vilariño-Güell, Carles, Zimprich, Alexander, Martinelli-Boneschi, Filippo, Herculano, Bruno, Wang, Zhe, Matesanz, Fuencisla, Urcelay, Elena, Vandenbroeck, Koen, Leyva, Laura, Gris, Denis, Massaad, Charbel, Quandt, Jacqueline A., Traboulsee, Anthony L., Encarnacion, Mary, Bernales, Cecily Q., Follett, Jordan, Yee, Irene M., Criscuoli, Maria G., Deutschländer, Angela, Reinthaler, Eva M., Zrzavy, Tobias, Mascia, Elisabetta, Zauli, Andrea, Esposito, Federica, Alcina, Antonio, Izquierdo, Guillermo, Espino-Paisán, Laura, Mena, Jorge, Antigüedad, Alfredo, Urbaneja-Romero, Patricia, Ortega-Pinazo, Jesús, Song, Weihong, Sadovnick, A. Dessa
Publicado 2019