Hasil Pencarian - Roger Colobran

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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 oleh Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2020-04-01
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  2. 2
    Novel frameshift variants expand the map of the genetic defects in IRF2BP2

    Novel frameshift variants expand the map of the genetic defects in IRF2BP2 oleh José María García-Aznar, Emilia Maneiro Pampín, Maite García Ramos, María José Acuña Pérez, Nerea Paz Gandiaga, Laura Minguell Domingo, Olga Calavia, Pere Soler-Palacin, Pere Soler-Palacin, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Erika M. Novoa Bolívar, Javier Gonzalo Ocejo Vinyals

    Diterbitkan 2023-10-01
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  3. 3
    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 oleh Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Xavier de la Cruz, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo

    Diterbitkan 2021-09-01
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  4. 4
    Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

    Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency oleh Moisés Labrador-Horrillo, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, María Antolín, Sandra Salgado-Perandrés, Sandra Salgado-Perandrés, Sandra Salgado-Perandrés, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Mónica Martinez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2022-04-01
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  5. 5
    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 oleh Ana Marín-Sánchez, Ana Marín-Sánchez, Ana Marín-Sánchez, Daniel Álvarez-Sierra, Daniel Álvarez-Sierra, Oscar González, Ana Lucas-Martin, Alicia Sellés-Sánchez, Francesc Rudilla, Emma Enrich, Roger Colobran, Roger Colobran, Roger Colobran, Ricardo Pujol-Borrell, Ricardo Pujol-Borrell, Ricardo Pujol-Borrell

    Diterbitkan 2019-07-01
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  6. 6
    FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

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

    Diterbitkan 2020-01-01
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  7. 7
    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 oleh Jacques G. Rivière, Jacques G. Rivière, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2020-02-01
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  8. 8
    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 oleh Mireia Boluda-Navarro, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Mariam Ibáñez, Alessandro Liquori, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Héctor Rodríguez-Vega, Jaijo Teresa, Carmen Carreras, Esperanza Such, Esperanza Such, Ángel Zúñiga, Roger Colobran, Roger Colobran, Roger Colobran, José Vicente Cervera, José Vicente Cervera

    Diterbitkan 2021-03-01
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  9. 9
    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 oleh Pere Soler-Palacín, Pere Soler-Palacín, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Clara Franco-Jarava, Clara Franco-Jarava, Jacques G. Rivière, Jacques G. Rivière, Alberto Plaja, Daniela Bezdan, Daniela Bezdan, Mattia Bosio, Mattia Bosio, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2018-10-01
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  10. 10
    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 oleh Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Irene Valenzuela, Irene Valenzuela, Jacques G. Riviere, Jacques G. Riviere, Jacques G. Riviere, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Romina Dieli-Crimi, Romina Dieli-Crimi, Romina Dieli-Crimi, Neus Castells, Neus Castells, Laura Batlle-Masó, Laura Batlle-Masó, Pere Soler-Palacin, Pere Soler-Palacin, Pere Soler-Palacin, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2022-06-01
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  11. 11
    Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

    Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications oleh Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Pablo Velasco, María Antolín, Jacques G. Rivière, Jacques G. Rivière, Jacques G. Rivière, Andrea Martín-Nalda, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Pere Soler-Palacín, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2022-11-01
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  12. 12
    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) oleh Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín

    Diterbitkan 2019-10-01
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  13. 13
    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings oleh Francesc Rudilla, Francesc Rudilla, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Jacques Rivière, Jacques Rivière, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Mongay, Francisco Vidal, Francisco Vidal, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández-Cancio, Mónica Fernández-Cancio, Carmen Carreras, José Manuel Vagace, Vicenç Garcia-Patos, Ricardo Pujol-Borrell, Ricardo Pujol-Borrell, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2019-10-01
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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) oleh Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin

    Diterbitkan 2019-12-01
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  15. 15
    Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8⁺T Effector Memory Subset.

    Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8⁺T Effector Memory Subset. oleh Núria Alonso, María Teresa Julián, Jorge Carrascal, Roger Colobran, Irma Pujol-Autonell, Silvia Rodriguez-Fernández, Aina Teniente, Marco Antonio Fernández, Antoni Miñarro, María Carmen Ruiz de Villa, Marta Vives-Pi, Manel Puig-Domingo

    Diterbitkan 2015-01-01
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  16. 16
    Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020

    Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020 oleh Dolores Álamo-Junquera, Julieta Politi, Pere Simón, Romina Dieli-Crimi, Ricardo Pujol Borrell, Roger Colobran, Monica Martínez-Gallo, Magda Campins, Andrés Antón, Juliana Esperalba, Cristina Andrés, María Gema Codina, Eva Polverino, M. Rosa Narciso, Emilia Molinero, Cristina Rius

    Diterbitkan 2021-05-01
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  17. 17
    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 oleh Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín

    Diterbitkan 2021-09-01
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  18. 18
    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond oleh Guillem de Valles-Ibáñez, Ana Esteve-Solé, Ana Esteve-Solé, Mònica Piquer, Mònica Piquer, E. Azucena González-Navarro, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Hafid Laayouni, Eva González-Roca, Eva González-Roca, Ana María Plaza-Martin, Ana María Plaza-Martin, Ángela Deyà-Martínez, Ángela Deyà-Martínez, Andrea Martín-Nalda, Andrea Martín-Nalda, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina García-Prat, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Ivón Cuscó, Marta Codina-Solà, Marta Codina-Solà, Laura Batlle-Masó, Laura Batlle-Masó, Manuel Solís-Moruno, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Juan Ignacio Aróstegui, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran, Jordi Yagüe, Jordi Yagüe, Laia Alsina, Laia Alsina, Manel Juan, Manel Juan, Ferran Casals

    Diterbitkan 2018-05-01
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  19. 19
    Newborn Screening for SCID: Experience in Spain (Catalonia)

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

    Diterbitkan 2021-07-01
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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 oleh Veronica Davalos, Carlos A. García-Prieto, Gerardo Ferrer, Sergio Aguilera-Albesa, Juan Valencia-Ramos, Agustí Rodríguez-Palmero, Montserrat Ruiz, Laura Planas-Serra, Iolanda Jordan, Iosune Alegría, Patricia Flores-Pérez, Verónica Cantarín, Victoria Fumadó, Maria Teresa Viadero, Carlos Rodrigo, Maria Méndez-Hernández, Eduardo López-Granados, Roger Colobran, Jacques G. Rivière, Pere Soler-Palacín, Aurora Pujol, Manel Esteller

    Diterbitkan 2022-08-01
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