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Page 1
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.
Sprenkeler EGG, Henriet SSV, Tool ATJ, Kreft IC, van der Bijl I, Aarts CEM, van Houdt M, Verkuijlen PJJH, van Aerde K, Jaspers G, van Heijst A, Koole W, Gardeitchik T, Geissler J, de Boer M, Tol S, Bruggeman CW, van Alphen FPJ, Verhagen HJMP, van den Akker E, Janssen H, van Bruggen R, van den Berg TK, Liem KD, Kuijpers TW. Sprenkeler EGG, et al. Among authors: henriet ssv. Blood. 2020 Jun 11;135(24):2171-2181. doi: 10.1182/blood.2019002633. Blood. 2020. PMID: 32128589 Free 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.
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Among authors: henriet ssv. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 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.
Guideline adherence in febrile children below 3 months visiting European Emergency Departments: an observational multicenter study.
Tan CD, van der Walle EEPL, Vermont CL, von Both U, Carrol ED, Eleftheriou I, Emonts M, van der Flier M, de Groot R, Herberg J, Kohlmaier B, Levin M, Lim E, Maconochie IK, Martinon-Torres F, Nijman RG, Pokorn M, Rivero-Calle I, Tsolia M, Yeung S, Zenz W, Zavadska D, Moll HA; PERFORM consortium (Personalised Risk assessment in febrile children to optimize Real-life Management across the European Union). Tan CD, et al. Eur J Pediatr. 2022 Dec;181(12):4199-4209. doi: 10.1007/s00431-022-04606-5. Epub 2022 Sep 30. Eur J Pediatr. 2022. PMID: 36178539 Free PMC article.
Febrile illness in high-risk children: a prospective, international observational study.
van der Velden FJS, de Vries G, Martin A, Lim E, von Both U, Kolberg L, Carrol ED, Khanijau A, Herberg JA, De T, Galassini R, Kuijpers TW, Martinón-Torres F, Rivero-Calle I, Vermont CL, Hagedoorn NN, Pokorn M, Pollard AJ, Schlapbach LJ, Tsolia M, Elefhteriou I, Yeung S, Zavadska D, Fink C, Voice M, Zenz W, Kohlmaier B, Agyeman PKA, Usuf E, Secka F, de Groot R, Levin M, van der Flier M, Emonts M; PERFORM consortium. van der Velden FJS, et al. Eur J Pediatr. 2023 Feb;182(2):543-554. doi: 10.1007/s00431-022-04642-1. Epub 2022 Oct 15. Eur J Pediatr. 2023. PMID: 36243780 Free PMC article.
Emergency medical services utilisation among febrile children attending emergency departments across Europe: an observational multicentre study.
Tan CD, Vermont CL, Zachariasse JM, von Both U, Eleftheriou I, Emonts M, van der Flier M, Herberg J, Kohlmaier B, Levin M, Lim E, Maconochie IK, Martinon-Torres F, Nijman RG, Pokorn M, Rivero-Calle I, Tsolia M, Zenz W, Zavadska D, Moll HA, Carrol ED; PERFORM consortium (Personalised Risk assessment in febrile children to optimize Real-life Management across the European Union). Tan CD, et al. Eur J Pediatr. 2023 Sep;182(9):3939-3947. doi: 10.1007/s00431-023-05056-3. Epub 2023 Jun 24. Eur J Pediatr. 2023. PMID: 37354239 Free PMC article.
Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens.
Willems E, Gloerich J, Suppers A, van der Flier M, van den Heuvel LP, van de Kar N, Philipsen RHLA, van Dael M, Kaforou M, Wright VJ, Herberg JA, Torres FM, Levin M, de Groot R, van Gool AJ, Lefeber DJ, Wessels HJCT, de Jonge MI; PERFORM consortium. Willems E, et al. iScience. 2023 Jul 4;26(8):107257. doi: 10.1016/j.isci.2023.107257. eCollection 2023 Aug 18. iScience. 2023. PMID: 37520696 Free PMC article.
55 results