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Page 1
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Dieli-Crimi R, Martínez-Gallo M, Franco-Jarava C, Antolin M, Blasco L, Paramonov I, Semidey ME, Álvarez Fernández A, Molero X, Velásquez J, Martín-Nalda A, Pujol-Borrell R, Colobran R. Dieli-Crimi R, et al. Among authors: antolin m. Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29. Clin Immunol. 2018. PMID: 30063981
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo M, Franco-Jarava C, Garcia-Prat M, Parra-Martínez A, Antolín M, Salgado-Perandrés S, Aguiló-Cucurull A, Martinez-Gallo M, Colobran R. Labrador-Horrillo M, et al. Among authors: antolin m. Front Immunol. 2022 Apr 8;13:881206. doi: 10.3389/fimmu.2022.881206. eCollection 2022. Front Immunol. 2022. PMID: 35464398 Free PMC article.
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Rivière JG, Franco-Jarava C, Martínez-Gallo M, Aguiló-Cucurull A, Blasco-Pérez L, Paramonov I, Antolín M, Martín-Nalda A, Soler-Palacín P, Colobran R. Rivière JG, et al. Among authors: antolin m. Front Immunol. 2020 Feb 12;11:46. doi: 10.3389/fimmu.2020.00046. eCollection 2020. Front Immunol. 2020. PMID: 32117230 Free PMC article.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D. Camats N, et al. Among authors: antolin m. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711. J Clin Endocrinol Metab. 2021. PMID: 33029631
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF. Fernández-Álvarez P, et al. Among authors: antolin m. J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910934 Review.
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M, Moreno-Galdó A. Baz-Redón N, et al. Among authors: antolin m. Arch Bronconeumol (Engl Ed). 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3. Arch Bronconeumol (Engl Ed). 2021. PMID: 32253119 English, Spanish.
The jejunum of diarrhea-predominant irritable bowel syndrome shows molecular alterations in the tight junction signaling pathway that are associated with mucosal pathobiology and clinical manifestations.
Martínez C, Vicario M, Ramos L, Lobo B, Mosquera JL, Alonso C, Sánchez A, Guilarte M, Antolín M, de Torres I, González-Castro AM, Pigrau M, Saperas E, Azpiroz F, Santos J. Martínez C, et al. Among authors: antolin m. Am J Gastroenterol. 2012 May;107(5):736-46. doi: 10.1038/ajg.2011.472. Epub 2012 Mar 13. Am J Gastroenterol. 2012. PMID: 22415197
Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Camats-Tarruella N, Fernández-Cancio M, Garrido-Pontnou M, Antolín M, Reula A, Armengot-Carceller M, Carrascosa A, Moreno-Galdó A. Baz-Redón N, et al. Among authors: antolin m. Arch Bronconeumol (Engl Ed). 2019 Aug;55(8):439-441. doi: 10.1016/j.arbres.2019.01.021. Epub 2019 Mar 5. Arch Bronconeumol (Engl Ed). 2019. PMID: 30850195 English, Spanish. No abstract available.
Chronic psychosocial stress induces reversible mitochondrial damage and corticotropin-releasing factor receptor type-1 upregulation in the rat intestine and IBS-like gut dysfunction.
Vicario M, Alonso C, Guilarte M, Serra J, Martínez C, González-Castro AM, Lobo B, Antolín M, Andreu AL, García-Arumí E, Casellas M, Saperas E, Malagelada JR, Azpiroz F, Santos J. Vicario M, et al. Among authors: antolin m. Psychoneuroendocrinology. 2012 Jan;37(1):65-77. doi: 10.1016/j.psyneuen.2011.05.005. Epub 2011 Jun 8. Psychoneuroendocrinology. 2012. PMID: 21641728
166 results