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Year Number of Results
2004 1
2005 2
2006 1
2007 3
2008 1
2009 2
2010 4
2011 2
2012 2
2013 3
2015 1
2016 9
2017 3
2018 4
2019 11
2020 8
2021 11
2022 10
2023 11
2024 2

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78 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.
Immunodeficiency in Bloom's Syndrome.
Schoenaker MHD, Henriet SS, Zonderland J, van Deuren M, Pan-Hammarström Q, Posthumus-van Sluijs SJ, Pico-Knijnenburg I, Weemaes CMR, IJspeert H. Schoenaker MHD, et al. Among authors: henriet ss. J Clin Immunol. 2018 Jan;38(1):35-44. doi: 10.1007/s10875-017-0454-y. Epub 2017 Nov 2. J Clin Immunol. 2018. PMID: 29098565 Free PMC article.
Genomic investigations of unexplained acute hepatitis in children.
Morfopoulou S, Buddle S, Torres Montaguth OE, Atkinson L, Guerra-Assunção JA, Moradi Marjaneh M, Zennezini Chiozzi R, Storey N, Campos L, Hutchinson JC, Counsell JR, Pollara G, Roy S, Venturini C, Antinao Diaz JF, Siam A, Tappouni LJ, Asgarian Z, Ng J, Hanlon KS, Lennon A, McArdle A, Czap A, Rosenheim J, Andrade C, Anderson G, Lee JCD, Williams R, Williams CA, Tutill H, Bayzid N, Martin Bernal LM, Macpherson H, Montgomery KA, Moore C, Templeton K, Neill C, Holden M, Gunson R, Shepherd SJ, Shah P, Cooray S, Voice M, Steele M, Fink C, Whittaker TE, Santilli G, Gissen P, Kaufer BB, Reich J, Andreani J, Simmonds P, Alrabiah DK, Castellano S, Chikowore P, Odam M, Rampling T, Houlihan C, Hoschler K, Talts T, Celma C, Gonzalez S, Gallagher E, Simmons R, Watson C, Mandal S, Zambon M, Chand M, Hatcher J, De S, Baillie K, Semple MG; DIAMONDS Consortium; PERFORM Consortium; ISARIC 4C Investigators; Martin J, Ushiro-Lumb I, Noursadeghi M, Deheragoda M, Hadzic N, Grammatikopoulos T, Brown R, Kelgeri C, Thalassinos K, Waddington SN, Jacques TS, Thomson E, Levin M, Brown JR, Breuer J. Morfopoulou S, et al. Nature. 2023 May;617(7961):564-573. doi: 10.1038/s41586-023-06003-w. Epub 2023 Mar 30. Nature. 2023. PMID: 36996872 Free PMC article.
A highly virulent variant of HIV-1 circulating in the Netherlands.
Wymant C, Bezemer D, Blanquart F, Ferretti L, Gall A, Hall M, Golubchik T, Bakker M, Ong SH, Zhao L, Bonsall D, de Cesare M, MacIntyre-Cockett G, Abeler-Dörner L, Albert J, Bannert N, Fellay J, Grabowski MK, Gunsenheimer-Bartmeyer B, Günthard HF, Kivelä P, Kouyos RD, Laeyendecker O, Meyer L, Porter K, Ristola M, van Sighem A, Berkhout B, Kellam P, Cornelissen M, Reiss P, Fraser C; Netherlands ATHENA HIV Observational Cohort†; BEEHIVE Collaboration†. Wymant C, et al. Science. 2022 Feb 4;375(6580):540-545. doi: 10.1126/science.abk1688. Epub 2022 Feb 3. Science. 2022. PMID: 35113714 Free article.
Aspergillosis in Chronic Granulomatous Disease.
King J, Henriet SSV, Warris A. King J, et al. Among authors: henriet ssv. J Fungi (Basel). 2016 May 26;2(2):15. doi: 10.3390/jof2020015. J Fungi (Basel). 2016. PMID: 29376932 Free PMC article. Review.
Endocarditis Caused by Nontypeable Streptococcus pneumoniae.
Henriet SSV, Langereis JD, Lo SW, Bentley S, Mesman RJ, Fejzic Z, van Niftrik L, van Sorge NM, Wertheim HFL, de Jonge MI, Cremers AJH. Henriet SSV, et al. Clin Infect Dis. 2022 Sep 10;75(4):719-722. doi: 10.1093/cid/ciac079. Clin Infect Dis. 2022. PMID: 35134152 Free PMC article.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
Severe Immune-Related Enteritis after In Utero Exposure to Pembrolizumab.
Baarslag MA, Heimovaara JH, Borgers JSW, van Aerde KJ, Koenen HJPM, Smeets RL, Buitelaar PLM, Pluim D, Vos S, Henriet SSV, de Groot JWB, van Grotel M, Rosing H, Beijnen JH, Huitema ADR, Haanen JBAG, Amant F, Gierenz N. Baarslag MA, et al. Among authors: henriet ssv. N Engl J Med. 2023 Nov 9;389(19):1790-1796. doi: 10.1056/NEJMoa2308135. N Engl J Med. 2023. PMID: 37937778
External validation of the PAGE-B score for HCC risk prediction in people living with HIV/HBV coinfection.
Surial B, Ramírez Mena A, Roumet M, Limacher A, Smit C, Leleux O, Mocroft A, van der Valk M, Bonnet F, Peters L, Rockstroh JK, Günthard HF, Berzigotti A, Rauch A, Wandeler G; Swiss HIV Cohort Study; ATHENA Observational Cohort Study; EuroSIDA; ANRS CO3 Aquitaine Cohort. Surial B, et al. J Hepatol. 2023 May;78(5):947-957. doi: 10.1016/j.jhep.2022.12.029. Epub 2023 Jan 21. J Hepatol. 2023. PMID: 36690280 Free article.
78 results