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

por Colobran, Roger
Publicado 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 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 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 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 2011

Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

por Viñas-Giménez, Laura, Rincón, Rafael, Colobran, Roger, de la Cruz, Xavier, Celis, Verónica Paola, Dapena, José Luis, Alsina, Laia, Sayós, Joan, Martínez-Gallo, Mónica
Publicado 2021

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

por Labrador-Horrillo, Moisés, Franco-Jarava, Clara, Garcia-Prat, Marina, Parra-Martínez, Alba, Antolín, María, Salgado-Perandrés, Sandra, Aguiló-Cucurull, Aina, Martinez-Gallo, Mónica, Colobran, Roger
Publicado 2022

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 2020

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

por Franco-Jarava, Clara, Valenzuela, Irene, Riviere, Jacques G., Garcia-Prat, Marina, Martínez-Gallo, Mónica, Dieli-Crimi, Romina, Castells, Neus, Batlle-Masó, Laura, Soler-Palacin, Pere, Colobran, Roger
Publicado 2022

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 2018

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

por Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobran, Roger, Cervera, José Vicente
Publicado 2021

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

por Malle, Louise, Bastard, Paul, Martin-Nalda, Andrea, Carpenter, Taya, Bush, Douglas, Patel, Roosheel, Colobran, Roger, Soler-Palacin, Pere, Casanova, Jean-Laurent, Gans, Melissa, Rivière, Jacques G., Bogunovic, Dusan
Publicado 2021

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 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 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 2015

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

por Batlle-Masó, Laura, Garcia-Prat, Marina, Parra-Martínez, Alba, Franco-Jarava, Clara, Aguiló-Cucurull, Aina, Velasco, Pablo, Antolín, María, Rivière, Jacques G., Martín-Nalda, Andrea, Soler-Palacín, Pere, Martínez-Gallo, Mónica, Colobran, Roger
Publicado 2022

Novel frameshift variants expand the map of the genetic defects in IRF2BP2

por García-Aznar, José María, Maneiro Pampín, Emilia, García Ramos, Maite, Acuña Pérez, María José, Paz Gandiaga, Nerea, Minguell Domingo, Laura, Calavia, Olga, Soler-Palacin, Pere, Colobran, Roger, Novoa Bolívar, Erika M., Ocejo Vinyals, Javier Gonzalo
Publicado 2023

Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020

por Álamo-Junquera, Dolores, Politi, Julieta, Simón, Pere, Dieli-Crimi, Romina, Borrell, Ricardo Pujol, Colobran, Roger, Martínez-Gallo, Monica, Campins, Magda, Antón, Andrés, Esperalba, Juliana, Andrés, Cristina, Codina, María Gema, Polverino, Eva, Narciso, M. Rosa, Molinero, Emilia, Rius, Cristina
Publicado 2021

Genome-wide detection of human variants that disrupt intronic branchpoints

por Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D., Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N., Abel, Laurent, Casanova, Jean-Laurent
Publicado 2022

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

por Martín-Nalda, Andrea, Rivière, Jacques G., Català-Besa, Mireia, García-Prat, Marina, Parra-Martínez, Alba, Martínez-Gallo, Mónica, Colobran, Roger, Argudo-Ramírez, Ana, Marín-Soria, Jose Luis, García-Villoria, Judit, Alonso, Laura, Arranz-Amo, Jose Antonio, la Marca, Giancarlo, Soler-Palacín, Pere
Publicado 2021