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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: van hagen pm, van der spek pj, van wijck rta. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R. Aksentijevich I, et al. Among authors: van royen kerkhoff a, van hagen pm. N Engl J Med. 2009 Jun 4;360(23):2426-37. doi: 10.1056/NEJMoa0807865. N Engl J Med. 2009. PMID: 19494218 Free PMC article.
Contrasting expression pattern of RNA-sensing receptors TLR7, RIG-I and MDA5 in interferon-positive and interferon-negative patients with primary Sjögren's syndrome.
Maria NI, Steenwijk EC, IJpma AS, van Helden-Meeuwsen CG, Vogelsang P, Beumer W, Brkic Z, van Daele PL, van Hagen PM, van der Spek PJ, Drexhage HA, Versnel MA. Maria NI, et al. Among authors: van hagen pm, van helden meeuwsen cg, van der spek pj, van daele pl. Ann Rheum Dis. 2017 Apr;76(4):721-730. doi: 10.1136/annrheumdis-2016-209589. Epub 2016 Sep 26. Ann Rheum Dis. 2017. PMID: 27672125
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.
Meesilpavikkai K, Dik WA, Schrijver B, Nagtzaam NM, van Rijswijk A, Driessen GJ, van der Spek PJ, van Hagen PM, Dalm VA. Meesilpavikkai K, et al. Among authors: van hagen pm, van der spek pj, van rijswijk a. Front Immunol. 2017 Mar 13;8:274. doi: 10.3389/fimmu.2017.00274. eCollection 2017. Front Immunol. 2017. PMID: 28348565 Free PMC article.
Retinal Pigment Epithelial Cells Control Early Mycobacterium tuberculosis Infection via Interferon Signaling.
La Distia Nora R, Walburg KV, van Hagen PM, Swagemakers SMA, van der Spek PJ, Quinten E, van Velthoven M, Ottenhoff THM, Dik WA, Haks MC. La Distia Nora R, et al. Among authors: van hagen pm, van der spek pj, van velthoven m. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1384-1395. doi: 10.1167/iovs.17-23246. Invest Ophthalmol Vis Sci. 2018. PMID: 29625462
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: van hagen pm, van slegtenhorst m. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
Coopmans EC, Chunharojrith P, Neggers SJCMM, van der Ent MW, Swagemakers SMA, Hollink IH, Barendregt BH, van der Spek PJ, van der Lely AJ, van Hagen PM, Dalm VASH. Coopmans EC, et al. Among authors: van hagen pm, van der spek pj, van der lely aj, van der ent mw. Front Immunol. 2019 Aug 30;10:2079. doi: 10.3389/fimmu.2019.02079. eCollection 2019. Front Immunol. 2019. PMID: 31543881 Free PMC article.
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N, van Wijck RTA, Broer L, Xue L, van Meurs JBJ, Barendregt BH, van der Burg M, Dik WA, Chatchatee P, Langerak AW, Swagemakers SMA, Goos JAC, Mathijssen IMJ, Dalm VASH, Suphapeetiporn K, Heezen KC, Drabwell J, Uitterlinden AG, van der Spek PJ, van Hagen PM; South East Asia Primary Immunodeficiencies (SEAPID) Consortium. Suratannon N, et al. Among authors: van hagen pm, van der spek pj, van meurs jbj, van wijck rta, van der burg m. Front Immunol. 2020 Apr 15;11:614. doi: 10.3389/fimmu.2020.00614. eCollection 2020. Front Immunol. 2020. PMID: 32373116 Free PMC article.
Integrative Analysis of Proteomics and DNA Methylation in Orbital Fibroblasts From Graves' Ophthalmopathy.
Virakul S, Somparn P, Pisitkun T, van der Spek PJ, Dalm VASH, Paridaens D, van Hagen PM, Hirankarn N, Palaga T, Dik WA. Virakul S, et al. Among authors: van hagen pm, van der spek pj. Front Endocrinol (Lausanne). 2021 Feb 15;11:619989. doi: 10.3389/fendo.2020.619989. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33658982 Free PMC article.
250 results