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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.
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.
Treatment of cystoid macular edema with octreotide.
Kuijpers RW, Baarsma S, van Hagen PM. Kuijpers RW, et al. Among authors: van hagen pm. N Engl J Med. 1998 Feb 26;338(9):624-6. doi: 10.1056/NEJM199802263380917. N Engl J Med. 1998. PMID: 9480445 No abstract available.
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C. Rao VK, et al. Among authors: van hagen pm. Blood. 2017 Nov 23;130(21):2307-2316. doi: 10.1182/blood-2017-08-801191. Epub 2017 Sep 29. Blood. 2017. PMID: 28972011 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.
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.
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.
251 results