Visualitza per autor "Colobran Oriol, Roger"
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Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction
Català-Moll, Francesc; Ferrete-Bonastre, Anna G.; Li, Tianlu; Weichenhan, Dieter; Lutsik, Pavlo; Ciudad, Laura; Dieli Crimi, Romina; Rivière, Jacques; Martín Nalda, Andrea; Colobran Oriol, Roger; Soler Palacín, Pere; Martínez Gallo, Mónica (Oxford University Press, 2021-05-21) -
Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis
Viñas Gimenez, Laura; Rincon Perez, Rafael; Colobran Oriol, Roger; Celis, Verónica Paola; Dapena, José Luis; Sayos Ortega, Juan; Martínez Gallo, Mónica; De la Cruz Montserrat, Fco. Xavier (Frontiers Media, 2021-09-23) -
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
Boluda-Navarro, Mireia; Ibáñez, Mariam; Liquori, Alessandro; Franco Jarava, Clara; Rodríguez-Vega, Héctor; Colobran Oriol, Roger; Martínez Gallo, Mónica (Frontiers Media, 2021-03-31) -
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
Franco Jarava, Clara; Valenzuela Palafoll, Ma Irene; Rivière, Jacques; García Prat, Marina; Dieli Crimi, Romina; Castells Sarret, Neus; Batlle Masó, Laura; Soler Palacín, Pere; Colobran Oriol, Roger; Martínez Gallo, Mónica (Frontiers Media, 2022-06-17) -
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Martín Nalda, Andrea; Rivière, Jacques; Catala-Besa, Mireia; García Prat, Marina; Parra Martínez, Alba; Colobran Oriol, Roger; Alonso Garcia, Laura; Arranz Amo, José Antonio; Soler Palacín, Pere; Martínez Gallo, Mónica (MDPI, 2021-12) -
Epigenome-wide association study of COVID-19 severity with respiratory failure
Castro de Moura, Manuel; Planas Serra, Laura; Alvarez-Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Colobran Oriol, Roger; Martín Nalda, Andrea; Soler Palacín, Pere; Davalos, Veronica (Elsevier, 2021-04) -
Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings
Rudilla Salvador, Francesc; Franco Jarava, Clara; García Prat, Marina; Martín Nalda, Andrea; Rivière, Jacques; Aguiló Cucurull, Aina; Vidal Pérez, Francisco; Cuscó Martín, Ivon; Serra Juhe, Clara; Baz Redón, Noelia; Fernández Cancio, Mónica; García-Patos Briones, Vicente; Pujol-Borrell, Ricardo; Soler Palacín, Pere; Colobran Oriol, Roger; Martínez Gallo, Mónica (Frontiers Media, 2019-10-01) -
First universal newborn screening program for severe combined immunodeficiency in Europe: two-years' experience in Catalonia (Spain)
Argudo-Ramírez, Ana; Martín Nalda, Andrea; Pajares Garcia, Sonia; García Prat, Marina; Colobran Oriol, Roger; Rivière, Jacques; Soler Palacín, Pere; Marin Soria, José Luis; Lopez Galera, Rosa Maria; González de Aledo Castillo, José Manuel; Martínez Gallo, Mónica (Frontiers Media, 2019-10-22) -
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency: two years’ experience in Catalonia (Spain)
Martín Nalda, Andrea; Cueto Gonzalez, Anna Maria; Argudo-Ramírez, Ana; Colobran Oriol, Roger; Plaja Rustein, Alberto; Castells Sarret, Neus; Rivière, Jacques; Tizzano Ferrari, Eduardo Fidel; Soler Palacín, Pere; Marin Soria, José Luis; Martínez Gallo, Mónica (Wiley Online Library, 2019-10-30) -
Newborn Screening for SCID: Experience in Spain (Catalonia)
Argudo-Ramírez, Ana; Martín Nalda, Andrea; González de Aledo Castillo, José Manuel; Lopez Galera, Rosa Maria; Marin Soria, José Luis; Pajares Garcia, Sonia; García Prat, Marina; Colobran Oriol, Roger; Rivière, Jacques; Soler Palacín, Pere (MDPI, 2021-07-20) -
Regulation of TSHR expression in the thyroid and thymus may contribute to TSHR tolerance failure in graves’ disease patients via two distinct mechanisms
Marín Sánchez, Ana María; Alvarez De la Sierra, Daniel; González López, Oscar; Lucas-Martin, Ana; Sellés Sanchez, Alicia; Rudilla Salvador, Francesc; Enrich Rande, Emma; Colobran Oriol, Roger; Pujol-Borrell, Ricardo (Frontiers Media, 2019-07-18) -
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
Baldassarri, Margherita; Picchiotti, Nicola; Fava, Francesca; Fallerini, Chiara; Benetti, Elisa; Daga, Sergio; Colobran Oriol, Roger; Soler Palacín, Pere (Elsevier, 2021-03)