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Page 1
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
Kuiper JJW, Setten JV, Devall M, Cretu-Stancu M, Hiddingh S, Ophoff RA, Missotten TOAR, Velthoven MV, Den Hollander AI, Hoyng CB, James E, Reeves E, Cordero-Coma M, Fonollosa A, Adán A, Martín J, Koeleman BPC, Boer JH, Pulit SL, Márquez A, Radstake TRDJ. Kuiper JJW, et al. Among authors: koeleman bpc. Hum Mol Genet. 2018 Dec 15;27(24):4333-4343. doi: 10.1093/hmg/ddy319. Hum Mol Genet. 2018. PMID: 30215709 Free PMC article.
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BP. Kuiper JJ, et al. Hum Mol Genet. 2014 Nov 15;23(22):6081-7. doi: 10.1093/hmg/ddu307. Epub 2014 Jun 22. Hum Mol Genet. 2014. PMID: 24957906 Free PMC article.
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
Bossini-Castillo L, Martin JE, Broen J, Gorlova O, Simeón CP, Beretta L, Vonk MC, Callejas JL, Castellví I, Carreira P, García-Hernández FJ, Fernández Castro M; Spanish Scleroderma Group; Coenen MJ, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Koeleman BP, Voskuyl AE, Schuerwegh AJ, Palm Ø, Hesselstrand R, Nordin A, Airó P, Lunardi C, Scorza R, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Tan FK, Arnett FC, Agarwal SK, Assassi S, Fonseca C, Mayes MD, Radstake TR, Martin J. Bossini-Castillo L, et al. Hum Mol Genet. 2012 Feb 15;21(4):926-33. doi: 10.1093/hmg/ddr522. Epub 2011 Nov 10. Hum Mol Genet. 2012. PMID: 22076442 Free PMC article.
Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.
Zhernakova A, Alizadeh BZ, Bevova M, van Leeuwen MA, Coenen MJ, Franke B, Franke L, Posthumus MD, van Heel DA, van der Steege G, Radstake TR, Barrera P, Roep BO, Koeleman BP, Wijmenga C. Zhernakova A, et al. Am J Hum Genet. 2007 Dec;81(6):1284-8. doi: 10.1086/522037. Epub 2007 Oct 24. Am J Hum Genet. 2007. PMID: 17999365 Free PMC article.
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Martin JE, Broen JC, Carmona FD, Teruel M, Simeon CP, Vonk MC, van 't Slot R, Rodriguez-Rodriguez L, Vicente E, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, de la Peña PG, Carreira P; Spanish Scleroderma Group; Voskuyl AE, Schuerwegh AJ, van Riel PL, Kreuter A, Witte T, Riemekasten G, Airo P, Scorza R, Lunardi C, Hunzelmann N, Distler JH, Beretta L, van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Tan FK, Arnett FC, Assassi S, Fonseca C, Mayes MD, Radstake TR, Koeleman BP, Martin J. Martin JE, et al. Hum Mol Genet. 2012 Jun 15;21(12):2825-35. doi: 10.1093/hmg/dds099. Epub 2012 Mar 9. Hum Mol Genet. 2012. PMID: 22407130 Free PMC article.
Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.
Schellevis RL, van Dijk EHC, Breukink MB, Altay L, Bakker B, Koeleman BPC, Kiemeney LA, Swinkels DW, Keunen JEE, Fauser S, Hoyng CB, den Hollander AI, Boon CJF, de Jong EK. Schellevis RL, et al. Among authors: koeleman bpc. JAMA Ophthalmol. 2018 Oct 1;136(10):1128-1136. doi: 10.1001/jamaophthalmol.2018.3190. JAMA Ophthalmol. 2018. PMID: 30073298 Free PMC article.
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, Ying J, Tan FK, Arnett FC, Reveille JD, Guerra S, Teruel M, Carmona FD, Gregersen PK, Lee AT, López-Isac E, Ochoa E, Carreira P, Simeón CP, Castellví I, González-Gay MÁ; Spanish Scleroderma Group; Zhernakova A, Padyukov L, Alarcón-Riquelme M, Wijmenga C, Brown M, Beretta L, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, Schuerwegh AJ, Hesselstrand R, Nordin A, Airó P, Lunardi C, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Wigley FM, Hummers LK, Varga J, Hinchcliff ME, Baron M, Hudson M, Pope JE, Furst DE, Khanna D, Phillips K, Schiopu E, Segal BM, Molitor JA, Silver RM, Steen VD, Simms RW, Lafyatis RA, Fessler BJ, Frech TM, Alkassab F, Docherty P, Kaminska E, Khalidi N, Jones HN, Markland J, Robinson D, Broen J, Radstake TR, Fonseca C, Koeleman BP, Martin J. Mayes MD, et al. Am J Hum Genet. 2014 Jan 2;94(1):47-61. doi: 10.1016/j.ajhg.2013.12.002. Am J Hum Genet. 2014. PMID: 24387989 Free PMC article.
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group; Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Radstake TR, et al. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. Epub 2010 Apr 11. Nat Genet. 2010. PMID: 20383147 Free PMC article.
240 results