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317 results

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Page 1
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.
Quartier P, Bustamante J, Sanal O, Plebani A, Debré M, Deville A, Litzman J, Levy J, Fermand JP, Lane P, Horneff G, Aksu G, Yalçin I, Davies G, Tezcan I, Ersoy F, Catalan N, Imai K, Fischer A, Durandy A. Quartier P, et al. Among authors: horneff g. Clin Immunol. 2004 Jan;110(1):22-9. doi: 10.1016/j.clim.2003.10.007. Clin Immunol. 2004. PMID: 14962793
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.
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL. Puel A, et al. Among authors: horneff g. Am J Hum Genet. 2006 Apr;78(4):691-701. doi: 10.1086/501532. Epub 2006 Feb 15. Am J Hum Genet. 2006. PMID: 16532398 Free PMC article.
The burden of systemic juvenile idiopathic arthritis for patients and caregivers: an international survey and retrospective chart review.
Shenoi S, Horneff G, Cidon M, Ramanan AV, Kimura Y, Quartier P, Foeldvari I, Zeft A, Lomax KG, Gregson J, Abma T, Campbell-Hill S, Weiss J, Patel D, Marinsek N, Wulffraat N. Shenoi S, et al. Among authors: horneff g. Clin Exp Rheumatol. 2018 Sep-Oct;36(5):920-928. Epub 2018 Mar 21. Clin Exp Rheumatol. 2018. PMID: 29600940 Free article.
Canakinumab in patients with systemic juvenile idiopathic arthritis and active systemic features: results from the 5-year long-term extension of the phase III pivotal trials.
Ruperto N, Brunner HI, Quartier P, Constantin T, Wulffraat NM, Horneff G, Kasapcopur O, Schneider R, Anton J, Barash J, Berner R, Corona F, Cuttica R, Fouillet-Desjonqueres M, Fischbach M, Foster HE, Foell D, Radominski SC, Ramanan AV, Trauzeddel R, Unsal E, Levy J, Vritzali E, Martini A, Lovell DJ; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Pediatric Rheumatology Collaborative Study Group (PRCSG). Ruperto N, et al. Among authors: horneff g. Ann Rheum Dis. 2018 Dec;77(12):1710-1719. doi: 10.1136/annrheumdis-2018-213150. Epub 2018 Sep 29. Ann Rheum Dis. 2018. PMID: 30269054 Free PMC article. Clinical Trial.
Safety and Effectiveness of Adalimumab in Patients With Polyarticular Course of Juvenile Idiopathic Arthritis: STRIVE Registry Seven-Year Interim Results.
Brunner HI, Nanda K, Toth M, Foeldvari I, Bohnsack J, Milojevic D, Rabinovich CE, Kingsbury DJ, Marzan K, Chalom E, Horneff G, Kuester RM, Dare JA, Trachana M, Jung LK, Olson J, Minden K, Quartier P, Bereswill M, Kalabic J, Kupper H, Lovell DJ, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation, and the Pediatric Rheumatology Collaborative Study Group. Brunner HI, et al. Among authors: horneff g. Arthritis Care Res (Hoboken). 2020 Oct;72(10):1420-1430. doi: 10.1002/acr.24044. Arthritis Care Res (Hoboken). 2020. PMID: 31421019 Free PMC article.
Treating juvenile idiopathic arthritis to target: recommendations of an international task force.
Ravelli A, Consolaro A, Horneff G, Laxer RM, Lovell DJ, Wulffraat NM, Akikusa JD, Al-Mayouf SM, Antón J, Avcin T, Berard RA, Beresford MW, Burgos-Vargas R, Cimaz R, De Benedetti F, Demirkaya E, Foell D, Itoh Y, Lahdenne P, Morgan EM, Quartier P, Ruperto N, Russo R, Saad-Magalhães C, Sawhney S, Scott C, Shenoi S, Swart JF, Uziel Y, Vastert SJ, Smolen JS. Ravelli A, et al. Among authors: horneff g. Ann Rheum Dis. 2018 Jun;77(6):819-828. doi: 10.1136/annrheumdis-2018-213030. Epub 2018 Apr 11. Ann Rheum Dis. 2018. PMID: 29643108
Efficacy and safety of tocilizumab in patients with polyarticular-course juvenile idiopathic arthritis: results from a phase 3, randomised, double-blind withdrawal trial.
Brunner HI, Ruperto N, Zuber Z, Keane C, Harari O, Kenwright A, Lu P, Cuttica R, Keltsev V, Xavier RM, Calvo I, Nikishina I, Rubio-Pérez N, Alexeeva E, Chasnyk V, Horneff G, Opoka-Winiarska V, Quartier P, Silva CA, Silverman E, Spindler A, Baildam E, Gámir ML, Martin A, Rietschel C, Siri D, Smolewska E, Lovell D, Martini A, De Benedetti F; Paediatric Rheumatology International Trials Organisation PRINTO; Pediatric Rheumatology Collaborative Study Group (PRCSG). Brunner HI, et al. Among authors: horneff g. Ann Rheum Dis. 2015 Jun;74(6):1110-7. doi: 10.1136/annrheumdis-2014-205351. Epub 2014 May 16. Ann Rheum Dis. 2015. PMID: 24834925 Free PMC article. Clinical Trial.
317 results