Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics

Por Colobran, Roger
Publicado no Front Genet (2020)

Decreased AIRE and promiscuous gene expression in thymus from Down syndrome individuals may explain predisposition to autoimmunity

Por Colobran Roger, del Pilar Armengol Maria, Porta Eduard, Correa Paula A, Pujol-Borrell Ricardo
Publicado em 2012-11-01

Decreased AIRE and promiscuous gene expression in thymus from Down syndrome individuals may explain predisposition to autoimmunity

Por Colobran, Roger, del Pilar Armengol, Maria, Porta, Eduard, Correa, Paula A, Pujol-Borrell, Ricardo
Publicado em 2012

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

Por Viñas-Giménez, Laura, Padilla, Natàlia, Batlle-Masó, Laura, Casals, Ferran, Rivière, Jacques G., Martínez-Gallo, Mónica, de la Cruz, Xavier, Colobran, Roger
Publicado no Front Immunol (2020)

Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms

Por Marín-Sánchez, Ana, Álvarez-Sierra, Daniel, González, Oscar, Lucas-Martin, Ana, Sellés-Sánchez, Alicia, Rudilla, Francesc, Enrich, Emma, Colobran, Roger, Pujol-Borrell, Ricardo
Publicado no Front Immunol (2019)

A SNP in intron 1 of TSHR controls its thymic expression and susceptibility to Graves’ disease suggesting central tolerance failure in pathogenesis

Por del Pilar Armengol, Maria, Faner, Rosa, Tykocinski, Lars-Olivier, Lucas-Martin, Anna, Ruiz-Riol, Marta, Juan, Manel, Kyewski, Bruno, Pujol-Borrell, Ricardo, Colobran, Roger
Publicado em 2011

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

Por Rivière, Jacques G., Franco-Jarava, Clara, Martínez-Gallo, Mónica, Aguiló-Cucurull, Aina, Blasco-Pérez, Laura, Paramonov, Ida, Antolín, María, Martín-Nalda, Andrea, Soler-Palacín, Pere, Colobran, Roger
Publicado no Front Immunol (2020)

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

Por Soler-Palacín, Pere, Garcia-Prat, Marina, Martín-Nalda, Andrea, Franco-Jarava, Clara, Rivière, Jacques G., Plaja, Alberto, Bezdan, Daniela, Bosio, Mattia, Martínez-Gallo, Mónica, Ossowski, Stephan, Colobran, Roger
Publicado no Front Immunol (2018)

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

Por Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, Macaya, Alfons, Estivill, Xavier, Ossowski, Stephan
Publicado no Hum Mutat (2019)

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

Por Martin‐Nalda, Andrea, Cueto‐González, Anna M., Argudo‐Ramírez, Ana, Marin‐Soria, Jose L., Martinez‐Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F., Soler‐Palacin, Pere
Publicado no Mol Genet Genomic Med (2019)

Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8(+)T Effector Memory Subset

Por Alonso, Núria, Julián, María Teresa, Carrascal, Jorge, Colobran, Roger, Pujol-Autonell, Irma, Rodriguez-Fernández, Silvia, Teniente, Aina, Fernández, Marco Antonio, Miñarro, Antoni, Ruiz de Villa, María Carmen, Vives-Pi, Marta, Puig-Domingo, Manel
Publicado no PLoS One (2015)

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Por Argudo-Ramírez, Ana, Martín-Nalda, Andrea, Marín-Soria, Jose L., López-Galera, Rosa M., Pajares-García, Sonia, González de Aledo-Castillo, Jose M., Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, García-Villoria, Judit, Ribes, Antonia, Soler-Palacín, Pere
Publicado no Front Immunol (2019)

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

Por Rudilla, Francesc, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Garcia-Prat, Marina, Martín-Nalda, Andrea, Rivière, Jacques, Aguiló-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier, Irastorza, Iñaki, Santos-Pérez, Juan Luis, Tercedor Sánchez, Jesús, Cuscó, Ivon, Serra, Clara, Baz-Redón, Noelia, Fernández-Cancio, Mónica, Carreras, Carmen, Vagace, José Manuel, Garcia-Patos, Vicenç, Pujol-Borrell, Ricardo, Soler-Palacín, Pere, Colobran, Roger
Publicado no Front Immunol (2019)

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

Por Sologuren, Ithaisa, Martínez-Saavedra, María Teresa, Solé-Violán, Jordi, de Borges de Oliveira Jr, Edgar, Betancor, Eva, Casas, Inmaculada, Oleaga-Quintas, Carmen, Martínez-Gallo, Mónica, Zhang, Shen-Ying, Pestano, Jose, Colobran, Roger, Herrera-Ramos, Estefanía, Pérez, Carmen, López-Rodríguez, Marta, Ruiz-Hernández, José Juan, Franco, Nieves, Ferrer, José María, Bilbao, Cristina, Andújar-Sánchez, Miguel, Álvarez Fernández, Mercedes, Ciancanelli, Michael J., Rodríguez de Castro, Felipe, Casanova, Jean-Laurent, Bustamante, Jacinta, Rodríguez-Gallego, Carlos
Publicado no J Clin Immunol (2018)

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

Por 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.
Publicado no J Clin Immunol (2020)

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

Por de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E. Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran
Publicado no Front Immunol (2018)