Search Results - Colobran Roger

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  1. 1
    Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics

    Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics by Colobran, Roger

    Published 2020
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  2. 2
    Decreased AIRE and promiscuous gene expression in thymus from Down syndrome individuals may explain predisposition to autoimmunity

    Decreased AIRE and promiscuous gene expression in thymus from Down syndrome individuals may explain predisposition to autoimmunity by Colobran, Roger, del Pilar Armengol, Maria, Porta, Eduard, Correa, Paula A, Pujol-Borrell, Ricardo

    Published 2012
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  3. 3
    FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

    FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis by Viñas-Giménez, Laura, Padilla, Natàlia, Batlle-Masó, Laura, Casals, Ferran, Rivière, Jacques G., Martínez-Gallo, Mónica, de la Cruz, Xavier, Colobran, Roger

    Published 2020
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  4. 4
    Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms

    Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms by Marín-Sánchez, Ana, Álvarez-Sierra, Daniel, González, Oscar, Lucas-Martin, Ana, Sellés-Sánchez, Alicia, Rudilla, Francesc, Enrich, Emma, Colobran, Roger, Pujol-Borrell, Ricardo

    Published 2019
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  5. 5
    A SNP in intron 1 of TSHR controls its thymic expression and susceptibility to Graves’ disease suggesting central tolerance failure in pathogenesis

    A SNP in intron 1 of TSHR controls its thymic expression and susceptibility to Graves’ disease suggesting central tolerance failure in pathogenesis by del Pilar Armengol, Maria, Faner, Rosa, Tykocinski, Lars-Olivier, Lucas-Martin, Anna, Ruiz-Riol, Marta, Juan, Manel, Kyewski, Bruno, Pujol-Borrell, Ricardo, Colobran, Roger

    Published 2011
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  6. 6
    Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

    Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis by Viñas-Giménez, Laura, Rincón, Rafael, Colobran, Roger, de la Cruz, Xavier, Celis, Verónica Paola, Dapena, José Luis, Alsina, Laia, Sayós, Joan, Martínez-Gallo, Mónica

    Published 2021
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  7. 7
    Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

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

    Published 2022
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  8. 8
    Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

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

    Published 2020
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  9. 9
    Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

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

    Published 2022
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  10. 10
    LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

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

    Published 2018
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  11. 11
    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

    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 by 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

    Published 2021
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  12. 12
    Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

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

    Published 2021
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  13. 13
    eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

    eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics by 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

    Published 2019
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  14. 14
    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

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

    Published 2019
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  15. 15
    Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020

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

    Published 2021
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  16. 16
    Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

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

    Published 2021
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  17. 17
    Newborn Screening for SCID. Experience in Spain (Catalonia)

    Newborn Screening for SCID. Experience in Spain (Catalonia) by Argudo-Ramírez, Ana, Martín-Nalda, Andrea, González de Aledo-Castillo, Jose Manuel, López-Galera, Rosa, Marín-Soria, Jose Luis, Pajares-García, Sonia, Martínez-Gallo, Mónica, García-Prat, Marina, Colobran, Roger, Riviere, Jacques G., Quintero, Yania, Collado, Tatiana, Ribes, Antonia, García-Villoria, Judit, Soler-Palacín, Pere

    Published 2021
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  18. 18
    First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

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

    Published 2019
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  19. 19
    Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

    Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis by Chen, Jie, Jing, Huie, Martin-Nalda, Andrea, Bastard, Paul, Rivière, Jacques G., Liu, Zhiyong, Colobran, Roger, Lee, Danyel, Tung, Wesley, Manry, Jeremy, Hasek, Mary, Boucherit, Soraya, Lorenzo, Lazaro, Rozenberg, Flore, Aubart, Mélodie, Abel, Laurent, Su, Helen C., Soler Palacin, Pere, Casanova, Jean-Laurent, Zhang, Shen-Ying

    Published 2021
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  20. 20
    Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study

    Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study by Davalos, Veronica, García-Prieto, Carlos A., Ferrer, Gerardo, Aguilera-Albesa, Sergio, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Planas-Serra, Laura, Jordan, Iolanda, Alegría, Iosune, Flores-Pérez, Patricia, Cantarín, Verónica, Fumadó, Victoria, Viadero, Maria Teresa, Rodrigo, Carlos, Méndez-Hernández, Maria, López-Granados, Eduardo, Colobran, Roger, Rivière, Jacques G., Soler-Palacín, Pere, Pujol, Aurora, Esteller, Manel

    Published 2022
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