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2014 1
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2018 3
2019 1
2020 1
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13 results

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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.
Rodríguez-Ubreva J, Arutyunyan A, Bonder MJ, Del Pino-Molina L, Clark SJ, de la Calle-Fabregat C, Garcia-Alonso L, Handfield LF, Ciudad L, Andrés-León E, Krueger F, Català-Moll F, Rodríguez-Cortez VC, Polanski K, Mamanova L, van Dongen S, Kiselev VY, Martínez-Saavedra MT, Heyn H, Martín J, Warnatz K, López-Granados E, Rodríguez-Gallego C, Stegle O, Kelsey G, Vento-Tormo R, Ballestar E. Rodríguez-Ubreva J, et al. Among authors: martinez saavedra mt. Nat Commun. 2022 Apr 1;13(1):1779. doi: 10.1038/s41467-022-29450-x. Nat Commun. 2022. PMID: 35365635 Free PMC article.
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. Esteve-Solé A, et al. Among authors: martinez saavedra mt. Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4. Crit Rev Clin Lab Sci. 2018. PMID: 29502462 Free PMC article. Review.
IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís B, Tapia-Torres M, García-Soidán A, Hernández-Brito E, Martínez-Saavedra MT, Lorenzo-Salazar JM, García-Hernández S, Van Den Rym A, Mayani K, Govantes-Rodríguez JV, Gervais A, Bastard P, Puel A, Casanova JL, Flores C, Pérez de Diego R, Rodríguez-Gallego C. García-Solís B, et al. Among authors: martinez saavedra mt. J Allergy Clin Immunol. 2024 Apr 4:S0091-6749(24)00330-0. doi: 10.1016/j.jaci.2024.03.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38579942
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O. Olbrich P, et al. Among authors: martinez saavedra mt. Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14. Pediatr Blood Cancer. 2015. PMID: 26173802 Free PMC article. Review.
The age again in the eye of the COVID-19 storm: evidence-based decision making.
Martín MC, Jurado A, Abad-Molina C, Orduña A, Yarce O, Navas AM, Cunill V, Escobar D, Boix F, Burillo-Sanz S, Vegas-Sánchez MC, Jiménez-de Las Pozas Y, Melero J, Aguilar M, Sobieschi OI, López-Hoyos M, Ocejo-Vinyals G, San Segundo D, Almeida D, Medina S, Fernández L, Vergara E, Quirant B, Martínez-Cáceres E, Boiges M, Alonso M, Esparcia-Pinedo L, López-Sanz C, Muñoz-Vico J, López-Palmero S, Trujillo A, Álvarez P, Prada Á, Monzón D, Ontañón J, Marco FM, Mora S, Rojo R, González-Martínez G, Martínez-Saavedra MT, Gil-Herrera J, Cantenys-Molina S, Hernández M, Perurena-Prieto J, Rodríguez-Bayona B, Martínez A, Ocaña E, Molina J. Martín MC, et al. Among authors: martinez saavedra mt. Immun Ageing. 2021 May 20;18(1):24. doi: 10.1186/s12979-021-00237-w. Immun Ageing. 2021. PMID: 34016150 Free PMC article.
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
Sologuren I, Martínez-Saavedra MT, Solé-Violán J, de Borges de Oliveira E Jr, Betancor E, Casas I, Oleaga-Quintas C, Martínez-Gallo M, Zhang SY, Pestano J, Colobran R, Herrera-Ramos E, Pérez C, López-Rodríguez M, Ruiz-Hernández JJ, Franco N, Ferrer JM, Bilbao C, Andújar-Sánchez M, Álvarez Fernández M, Ciancanelli MJ, Rodríguez de Castro F, Casanova JL, Bustamante J, Rodríguez-Gallego C. Sologuren I, et al. Among authors: martinez saavedra mt. J Clin Immunol. 2018 May;38(4):513-526. doi: 10.1007/s10875-018-0512-0. Epub 2018 Jun 7. J Clin Immunol. 2018. PMID: 29882021 Free PMC article.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Mensa-Vilaró A, et al. Among authors: martinez saavedra mt. J Allergy Clin Immunol. 2019 Jan;143(1):359-368. doi: 10.1016/j.jaci.2018.09.009. Epub 2018 Sep 29. J Allergy Clin Immunol. 2019. PMID: 30273710 Free article. Clinical Trial.
Altered Profile of Circulating Endothelial-Derived Microparticles in Ventilator-Induced Lung Injury.
Cabrera-Benítez NE, Valladares F, García-Hernández S, Ramos-Nuez Á, Martín-Barrasa JL, Martínez-Saavedra MT, Rodríguez-Gallego C, Muros M, Flores C, Liu M, Slutsky AS, Villar J. Cabrera-Benítez NE, et al. Among authors: martinez saavedra mt. Crit Care Med. 2015 Dec;43(12):e551-9. doi: 10.1097/CCM.0000000000001280. Crit Care Med. 2015. PMID: 26308427
COVID-19: age, Interleukin-6, C-reactive protein, and lymphocytes as key clues from a multicentre retrospective study.
Jurado A, Martín MC, Abad-Molina C, Orduña A, Martínez A, Ocaña E, Yarce O, Navas AM, Trujillo A, Fernández L, Vergara E, Rodríguez B, Quirant B, Martínez-Cáceres E, Hernández M, Perurena-Prieto J, Gil J, Cantenys S, González-Martínez G, Martínez-Saavedra MT, Rojo R, Marco FM, Mora S, Ontañón J, López-Hoyos M, Ocejo-Vinyals G, Melero J, Aguilar M, Almeida D, Medina S, Vegas MC, Jiménez Y, Prada Á, Monzón D, Boix F, Cunill V, Molina J. Jurado A, et al. Among authors: martinez saavedra mt. Immun Ageing. 2020 Aug 14;17:22. doi: 10.1186/s12979-020-00194-w. eCollection 2020. Immun Ageing. 2020. PMID: 32802142 Free PMC article.
13 results