Roger Colobran Oriol

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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

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45 Article
3 Review article

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, M., Ibáñez, M., Liquori, A., Franco-Jarava, C., Martínez-Gallo, M., Rodríguez-Vega, H., Teresa, J., Carreras, C., Such, E., Zúñiga, Á., Colobran, R. & Cervera, J. V., 31 Mar 2021, In: Frontiers in immunology. 12, 625591.
Research output: Contribution to journal › Article › Research › peer-review

Open Access
3 Citations (Scopus)
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
Oleaga-Quintas, C., de Oliveira-Júnior, E. B., Rosain, J., Rapaport, F., Deswarte, C., Guérin, A., Sajjath, S. M., Zhou, Y. J., Marot, S., Lozano, C., Branco, L., Fernández-Hidalgo, N., Lew, D. B., Brunel, A. S., Thomas, C., Launay, E., Arias, A. A., Cuffel, A., Monjo, V. C., Neehus, A. L., & 40 othersMarques, L., Roynard, M., Moncada-Vélez, M., Gerçeker, B., Colobran, R., Vigué, M. G., Lopez-Herrera, G., Berron-Ruiz, L., Méndez, N. H. S., O’Farrill Romanillos, P., Le Voyer, T., Puel, A., Bellanné-Chantelot, C., Ramirez, K. A., Lorenzo-Diaz, L., Alejo, N. R., de Diego, R. P., Condino-Neto, A., Mellouli, F., Rodriguez-Gallego, C., Witte, T., Restrepo, J. F., Jobim, M., Boisson-Dupuis, S., Jeziorski, E., Fieschi, C., Vogt, G., Donadieu, J., Pasquet, M., Vasconcelos, J., Ardeniz, F. O., Martínez-Gallo, M., Campos, R. A., Jobim, L. F., Martínez-Barricarte, R., Liu, K., Cobat, A., Abel, L., Casanova, J. L. & Bustamante, J., Apr 2021, In: Journal of Clinical Immunology. 41, 3, p. 639-657 19 p.
Research output: Contribution to journal › Article › Research › peer-review
14 Citations (Scopus)
50 años del Programa de Cribado Neonatal en Cataluña
Translated title of the contribution: 50 years of the Neonatal Screening Program in CataloniaMarín Soria, J. L., López Galera, R. M., Argudo Ramírez, A., González de Aledo, J. M., Pajares García, S., Navarro Sastre, A., Hernandez Pérez, J. M., Ribes Rubio, A., Gort Mas, L., García Villoria, J., Gartner Tizano, S., Rovira Amigo, S., Asensio de la Cruz, O., García González, M., Cols Roig, M., Costa Colomer, J., Bádenas Orquin, C., Yeste Fernández, D., Campos Martorell, A., Clemente León, M., & 40 othersMogas Viñals, E., Ferrer Costa, R., Giralt Arnaiz, M., Campistol Plana, J., García Cazorla, Á., Beneitez Pastor, D., Ortuño Cabrero, A., Blanco Álvarez, A., Tazón Vega, B., Roué, G., Velasco Puyo, P., Murciano Carrillo, T., Murillo Sanjuan, L., Díaz de Heredia Rubio, C., Mañú Pereira, M. D. M., Vives Corrons, J. L., Arranz Amo, J. A., Carnicer Cáceres, C., Del Toro Riera, M., Ormazábal Herrero, A., Artuch Iriberri, R., García-Volpe, C., de Los Santos, M. M., Sierra March, C., Ruiz Hernández, C. J., Meavilla Olivas, S. M., Martín Nalda, A., Rivière, J. G., Parra Martínez, A., Soler Palacín, P., Martínez Gallo, M., Colobran, R., Casals Senent, T., Armelles Sebastia, M., Vidal Benede, M. J., Jané Checa, M., Fernández Bordón, R. M., Asso Ministral, L., Prats Viedma, B. & Cabezas Peña, C., 16 Dec 2020, In: Revista Espanola de Salud Publica. 94
Research output: Contribution to journal › Article › Research › peer-review
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis
Viñas-Giménez, L., Padilla, N., Batlle-Masó, L., Casals, F., Rivière, J. G., Martínez-Gallo, M., de la Cruz, X. & Colobran, R., 31 Jan 2020, In: Frontiers in immunology. 11, 107.
Research output: Contribution to journal › Article › Research › peer-review

Open Access
5 Citations (Scopus)
Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity
Viñas-Giménez, L., Donadeu, L., Alsina, L., Rincón, R., de la Campa, E. Á., Esteve-Sole, A., Català, A., Colobran, R., de la Cruz, X., Sayós, J. & Martínez-Gallo, M., 1 Mar 2020, In: International Journal of Hematology. 111, 3, p. 440-450 11 p.
Research output: Contribution to journal › Article › Research › peer-review
3 Citations (Scopus)

Estudi Immunogenètic de les Quimiocines CCL4 i CCL4L: Exemple i Model de la Complexitat de la Superfamília de les Quimiocines
Author: Colobran Oriol, R., 31 Jan 2008
Supervisor: Juan Otero, M. (Director)
Student thesis: Doctoral thesis

Roger Colobran Oriol

Personal profile

Expertise related to UN Sustainable Development Goals

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

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

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

50 años del Programa de Cribado Neonatal en Cataluña

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

Estudi Immunogenètic de les Quimiocines CCL4 i CCL4L: Exemple i Model de la Complexitat de la Superfamília de les Quimiocines

Roger Colobran Oriol

Personal profile

Expertise related to UN Sustainable Development Goals

Fingerprint

Collaborations and top research areas from the last five years

Research output

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

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

50 años del Programa de Cribado Neonatal en Cataluña

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

Thesis

Estudi Immunogenètic de les Quimiocines CCL4 i CCL4L: Exemple i Model de la Complexitat de la Superfamília de les Quimiocines