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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: eleftheriou d. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Gender differences in juvenile systemic sclerosis patients: Results from the international juvenile scleroderma inception cohort.
Foeldvari I, Klotsche J, Kasapcopur O, Adrovic A, Terreri MT, Sakamoto AP, Stanevicha V, Anton J, Feldman BM, Sztajnbok F, Khubchandani R, Alexeeva E, Katsicas M, Sawhney S, Smith V, Appenzeller S, Avcin T, Kostik M, Lehman T, Marrani E, Schonenberg-Meinema D, Sifuentes-Giraldo WA, Vasquez-Canizares N, Janarthanan M, Moll M, Nemcova D, Patwardhan A, Santos MJ, Battagliotti C, Berntson L, Bica B, Brunner J, Cimaz R, Costa-Reis P, Eleftheriou D, Harel L, Horneff G, Johnson SR, Kaiser D, Kallinich T, Lazarevic D, Minden K, Nielsen S, Nuruzzaman F, Opsahl Hetlevik S, Uziel Y, Helmus N, Torok KS. Foeldvari I, et al. Among authors: eleftheriou d. J Scleroderma Relat Disord. 2023 Jun;8(2):120-130. doi: 10.1177/23971983221143244. Epub 2022 Dec 19. J Scleroderma Relat Disord. 2023. PMID: 37287945
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D, Omoyinmi E, Hong Y, Mulhern C, Papadopoulou C, Casimir M, Hacohen Y, Nyanhete R, Ahlfors H, Cullup T, Lim M, Gilmour K, Mankad K, Wassmer E, Berg S, Hemingway C, Brogan P, Eleftheriou D. McCreary D, et al. Among authors: eleftheriou d. JAMA Netw Open. 2019 Oct 2;2(10):e1914274. doi: 10.1001/jamanetworkopen.2019.14274. JAMA Netw Open. 2019. PMID: 31664448 Free PMC article.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Among authors: eleftheriou d. Ann Rheum Dis. 2022 May;81(5):601-613. doi: 10.1136/annrheumdis-2021-221814. Epub 2022 Jan 27. Ann Rheum Dis. 2022. PMID: 35086813 Free PMC article.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Among authors: eleftheriou d. Arthritis Rheumatol. 2022 May;74(5):735-751. doi: 10.1002/art.42087. Epub 2022 Mar 21. Arthritis Rheumatol. 2022. PMID: 35315249
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Maassen W, Legger G, Kul Cinar O, van Daele P, Gattorno M, Bader-Meunier B, Wouters C, Briggs T, Johansson L, van der Velde J, Swertz M, Omoyinmi E, Hoppenreijs E, Belot A, Eleftheriou D, Caorsi R, Aeschlimann F, Boursier G, Brogan P, Haimel M, van Gijn M. Maassen W, et al. Among authors: eleftheriou d. Front Immunol. 2023 Sep 12;14:1215869. doi: 10.3389/fimmu.2023.1215869. eCollection 2023. Front Immunol. 2023. PMID: 37781402 Free PMC article.
Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease.
Dale RC, Brilot F, Duffy LV, Twilt M, Waldman AT, Narula S, Muscal E, Deiva K, Andersen E, Eyre MR, Eleftheriou D, Brogan PA, Kneen R, Alper G, Anlar B, Wassmer E, Heineman K, Hemingway C, Riney CJ, Kornberg A, Tardieu M, Stocco A, Banwell B, Gorman MP, Benseler SM, Lim M. Dale RC, et al. Among authors: eleftheriou d. Neurology. 2014 Jul 8;83(2):142-50. doi: 10.1212/WNL.0000000000000570. Epub 2014 Jun 11. Neurology. 2014. PMID: 24920861 Free PMC article.
144 results