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Page 1
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.
Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, García-Hernandez FJ, Carreira P, Camps MT, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay MA, Airo P, Beretta L, Scorza R, Herrick A, Worthington J, Pros A, Gómez-Gracia I, Trapiella L, Espinosa G, Castellvi I, Witte T, de Keyser F, Vanthuyne M, Mayes MD, Radstake TR, Arnett FC, Martin J, Rueda B. Diaz-Gallo LM, et al. Among authors: fonollosa v. Ann Rheum Dis. 2011 Mar;70(3):454-62. doi: 10.1136/ard.2010.130138. Epub 2010 Dec 3. Ann Rheum Dis. 2011. PMID: 21131644 Free PMC article.
The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype.
Rueda B, Broen J, Torres O, Simeon C, Ortego-Centeno N, Schrijvenaars MM, Vonk MC, Fonollosa V, van den Hoogen FH, Coenen MJ, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Martin J, Radstake TR. Rueda B, et al. Among authors: fonollosa v. Ann Rheum Dis. 2009 Feb;68(2):253-6. doi: 10.1136/ard.2008.096719. Epub 2008 Aug 19. Ann Rheum Dis. 2009. PMID: 18713787
A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype.
Rueda B, Simeon C, Hesselstrand R, Herrick A, Worthington J, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Gonzalez-Escribano MF, Coenen MJ, Lambert N, Nelson JL, Radstake TR, Martin J. Rueda B, et al. Among authors: fonollosa v. Ann Rheum Dis. 2009 Oct;68(10):1618-20. doi: 10.1136/ard.2008.100180. Epub 2008 Dec 3. Ann Rheum Dis. 2009. PMID: 19054816 Free PMC article.
Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes.
Acosta-Herrera M, Kerick M, Lopéz-Isac E, Assassi S, Beretta L, Simeón-Aznar CP, Ortego-Centeno N; International SSc Group; Proudman SM; Australian Scleroderma Interest Group (ASIG); Hunzelmann N, Moroncini G, de Vries-Bouwstra JK, Orozco G, Barton A, Herrick AL, Terao C, Allanore Y, Brown MA, Radstake TR, Fonseca C, Denton CP, Mayes MD, Martin J. Acosta-Herrera M, et al. Ann Rheum Dis. 2021 Aug;80(8):1040-1047. doi: 10.1136/annrheumdis-2021-219884. Epub 2021 Apr 1. Ann Rheum Dis. 2021. PMID: 34096881 Free PMC article.
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype.
Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suárez H, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Coenen MJ, Airo P, Beretta L, Scorza R, van Laar J, Gonzalez-Escribano MF, Nelson JL, Radstake TR, Martin J. Rueda B, et al. Among authors: fonollosa v. Hum Mol Genet. 2009 Jun 1;18(11):2071-7. doi: 10.1093/hmg/ddp119. Epub 2009 Mar 13. Hum Mol Genet. 2009. PMID: 19286670
The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis.
Martin JE, Carmona FD, Broen JC, Simeón CP, Vonk MC, Carreira P, Ríos-Fernández R, Espinosa G, Vicente-Rabaneda E, Tolosa C, García-Hernández FJ, Castellví I, Fonollosa V, González-Gay MA, Sáez-Comet L, Portales RG, de la Peña PG, Fernández-Castro M, Díaz B, Martínez-Estupiñán L, Coenen M, Voskuyl AE, Schuerwegh AJ, Vanthuyne M, Houssiau F, Smith V, de Keyser F, De Langhe E, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Palm Ø, Chee MM, van Laar JM, Denton C, Herrick A, Worthington J, Koeleman BP, Radstake TR, Fonseca C, Martín J; Spanish Scleroderma Group. Martin JE, et al. Among authors: fonollosa v. Genes Immun. 2012 Feb;13(2):191-6. doi: 10.1038/gene.2011.72. Epub 2011 Oct 20. Genes Immun. 2012. PMID: 22012429
Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis.
McKinney C, Broen JC, Vonk MC, Beretta L, Hesselstrand R, Hunzelmann N, Riemekasten G, Scorza R, Simeon CP, Fonollosa V, Carreira PE, Ortego-Centeno N, Gonzalez-Gay MA, Airo P, Coenen M, Martin J, Radstake TR, Merriman TR. McKinney C, et al. Among authors: fonollosa v. Genes Immun. 2012 Sep;13(6):458-60. doi: 10.1038/gene.2012.15. Epub 2012 May 3. Genes Immun. 2012. PMID: 22551723
No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
Cénit MC, Simeón CP, Fonollosa V, Espinosa G, Beltrán E, Sáez-Comet L, Vicente-Rabaneda E, García-Hernández FJ, Martínez-Estupiñán L, Rodríguez-Carballeira M, Hernández V, de la Peña PG, Fernández-Castro M, Narváez FJ, Pros A, Gallego M, Ríos-Fernández R, Camps MT, Fernández-Nebro A, Egurbide MV, Carreira P, González-Gay MA, Martín J; Spanish Scleroderma Group. Cénit MC, et al. Among authors: fonollosa v. Tissue Antigens. 2012 Sep;80(3):254-8. doi: 10.1111/j.1399-0039.2012.01915.x. Epub 2012 Jun 29. Tissue Antigens. 2012. PMID: 22742541
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.
Kerick M, Acosta-Herrera M, Simeón-Aznar CP, Callejas JL, Assassi S; International SSc Group; Proudman SM, Nikpour M; Australian Scleroderma Interest Group (ASIG); PRECISESADS Clinical Consortium; Hunzelmann N, Moroncini G, de Vries-Bouwstra JK, Orozco G, Barton A, Herrick AL, Terao C, Allanore Y, Fonseca C, Alarcón-Riquelme ME, Radstake TRDJ, Beretta L, Denton CP, Mayes MD, Martin J. Kerick M, et al. NPJ Genom Med. 2022 Oct 5;7(1):57. doi: 10.1038/s41525-022-00327-8. NPJ Genom Med. 2022. PMID: 36198672 Free PMC article.
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