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Page 1
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, Neven B, Kuemmerle-Deschner J, Ozgodan H, Caorsi R, Federici S, Finetti M, Trachana M, Brunner J, Bezrodnik L, Pinedo Gago MC, Maggio MC, Tsitsami E, Al Suwairi W, Espada G, Shcherbina A, Aksu G, Ruperto N, Martini A, Ceccherini I, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project. Papa R, et al. Among authors: lachmann hj. Orphanet J Rare Dis. 2017 Oct 18;12(1):167. doi: 10.1186/s13023-017-0720-3. Orphanet J Rare Dis. 2017. PMID: 29047407 Free PMC article.
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Piram M, Frenkel J, Gattorno M, Ozen S, Lachmann HJ, Goldbach-Mansky R, Hentgen V, Neven B, Stojanovic KS, Simon A, Kuemmerle-Deschner J, Hoffman H, Stojanov S, Duquesne A, Pillet P, Martini A, Pouchot J, Koné-Paut I; EUROFEVER and EUROTRAPS networks. Piram M, et al. Among authors: lachmann hj. Ann Rheum Dis. 2011 Feb;70(2):309-14. doi: 10.1136/ard.2010.132613. Epub 2010 Nov 15. Ann Rheum Dis. 2011. PMID: 21081528 Free PMC article.
An international registry on autoinflammatory diseases: the Eurofever experience.
Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Koné-Paut I, De Benedetti F, Neven B, Hofer M, Dolezalova P, Kümmerle-Deschner J, Touitou I, Hentgen V, Simon A, Girschick H, Rose C, Wouters C, Vesely R, Arostegui J, Stojanov S, Ozgodan H, Martini A, Ruperto N, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO), Eurotraps and Eurofever Projects. Toplak N, et al. Among authors: lachmann hj. Ann Rheum Dis. 2012 Jul;71(7):1177-82. doi: 10.1136/annrheumdis-2011-200549. Epub 2012 Feb 29. Ann Rheum Dis. 2012. PMID: 22377804 Free article.
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW. Stoffels M, et al. Among authors: lachmann hj. Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505238
Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes.
Piram M, Koné-Paut I, Lachmann HJ, Frenkel J, Ozen S, Kuemmerle-Deschner J, Stojanov S, Simon A, Finetti M, Sormani MP, Martini A, Gattorno M, Ruperto N; EUROFEVER, EUROTRAPS and the Paediatric Rheumatology International Trials Organisation (PRINTO) networks. Piram M, et al. Among authors: lachmann hj. Ann Rheum Dis. 2014 Dec;73(12):2168-73. doi: 10.1136/annrheumdis-2013-203666. Epub 2013 Sep 11. Ann Rheum Dis. 2014. PMID: 24026675 Free PMC article.
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J, Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S. Giancane G, et al. Among authors: lachmann hj. Ann Rheum Dis. 2015 Apr;74(4):635-41. doi: 10.1136/annrheumdis-2014-206844. Epub 2015 Jan 27. Ann Rheum Dis. 2015. PMID: 25628446 Free article. Review.
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Federici S, Sormani MP, Ozen S, Lachmann HJ, Amaryan G, Woo P, Koné-Paut I, Dewarrat N, Cantarini L, Insalaco A, Uziel Y, Rigante D, Quartier P, Demirkaya E, Herlin T, Meini A, Fabio G, Kallinich T, Martino S, Butbul AY, Olivieri A, Kuemmerle-Deschner J, Neven B, Simon A, Ozdogan H, Touitou I, Frenkel J, Hofer M, Martini A, Ruperto N, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and Eurofever Project. Federici S, et al. Among authors: lachmann hj. Ann Rheum Dis. 2015 May;74(5):799-805. doi: 10.1136/annrheumdis-2014-206580. Epub 2015 Jan 30. Ann Rheum Dis. 2015. PMID: 25637003
Recommendations for the management of autoinflammatory diseases.
ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB. ter Haar NM, et al. Among authors: lachmann hj. Ann Rheum Dis. 2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24. Ann Rheum Dis. 2015. PMID: 26109736 Free article. Review.
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project. Ter Haar NM, et al. Among authors: lachmann hj. Arthritis Rheumatol. 2016 Nov;68(11):2795-2805. doi: 10.1002/art.39763. Arthritis Rheumatol. 2016. PMID: 27213830 Free article.
Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study.
Gattorno M, Obici L, Cattalini M, Tormey V, Abrams K, Davis N, Speziale A, Bhansali SG, Martini A, Lachmann HJ. Gattorno M, et al. Among authors: lachmann hj. Ann Rheum Dis. 2017 Jan;76(1):173-178. doi: 10.1136/annrheumdis-2015-209031. Epub 2016 Jun 7. Ann Rheum Dis. 2017. PMID: 27269295 Free PMC article. Clinical Trial.
249 results