檢索結果 - Colobran Roger

Refine Results
  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 由 Colobran, Roger

    出版 2020
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 Colobran, Roger, del Pilar Armengol, Maria, Porta, Eduard, Correa, Paula A, Pujol-Borrell, Ricardo

    出版 2012
    獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 Viñas-Giménez, Laura, Padilla, Natàlia, Batlle-Masó, Laura, Casals, Ferran, Rivière, Jacques G., Martínez-Gallo, Mónica, de la Cruz, Xavier, Colobran, Roger

    出版 2020
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 Marín-Sánchez, Ana, Álvarez-Sierra, Daniel, González, Oscar, Lucas-Martin, Ana, Sellés-Sánchez, Alicia, Rudilla, Francesc, Enrich, Emma, Colobran, Roger, Pujol-Borrell, Ricardo

    出版 2019
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 del Pilar Armengol, Maria, Faner, Rosa, Tykocinski, Lars-Olivier, Lucas-Martin, Anna, Ruiz-Riol, Marta, Juan, Manel, Kyewski, Bruno, Pujol-Borrell, Ricardo, Colobran, Roger

    出版 2011
    獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 Viñas-Giménez, Laura, Rincón, Rafael, Colobran, Roger, de la Cruz, Xavier, Celis, Verónica Paola, Dapena, José Luis, Alsina, Laia, Sayós, Joan, Martínez-Gallo, Mónica

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2020
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2018
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  13. 13
    eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

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

    出版 2019
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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) 由 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

    出版 2019
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  17. 17
    Newborn Screening for SCID. Experience in Spain (Catalonia)

    Newborn Screening for SCID. Experience in Spain (Catalonia) 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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) 由 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

    出版 2019
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:

檢索工具: