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88 results

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Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Current treatment in macrophage activation syndrome worldwide: a systematic literature review to inform the METAPHOR project.
Baldo F, Erkens RGA, Mizuta M, Rogani G, Lucioni F, Bracaglia C, Foell D, Gattorno M, Jelusic M, Anton J, Brogan P, Canna S, Chandrakasan S, Cron RQ, De Benedetti F, Grom A, Heshin-Bekenstein M, Horne A, Khubchandani R, Ozen S, Quartier P, Ravelli A, Shimizu M, Schulert G, Scott C, Sinha R, Ruperto N, Swart JF, Vastert S, Minoia F; PReS MAS/sJIA Working Party and Paediatric Rheumatology International Trial Organization. Baldo F, et al. Rheumatology (Oxford). 2025 Jan 1;64(1):32-44. doi: 10.1093/rheumatology/keae391. Rheumatology (Oxford). 2025. PMID: 39058514 Free PMC article.
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
Brichova M, Klimova A, Heissigerova J, Svozilkova P, Vaneckova M, Dolezalova P, Nemcova D, Michalickova M, Jedlickova J, Dudakova L, Liskova P. Brichova M, et al. Among authors: dolezalova p. Genes (Basel). 2024 Jun 18;15(6):799. doi: 10.3390/genes15060799. Genes (Basel). 2024. PMID: 38927735 Free PMC article.
Defining criteria for disease activity states in juvenile dermatomyositis based on the Juvenile Dermatomyositis Activity Index.
Rosina S, Consolaro A, Pistorio A, Rebollo-Giménez A, Bracaglia C, Dolezalova P, Guilaisne Bernard-Medina A, Herlin T, Trachana M, Vargová V, Wouters C, Carenini L, Ruperto N, Ravelli A; Paediatric Rheumatology International Trials Organisation (PRINTO). Rosina S, et al. Among authors: dolezalova p. RMD Open. 2024 Feb 2;10(1):e003093. doi: 10.1136/rmdopen-2023-003093. RMD Open. 2024. PMID: 38307698 Free PMC article.
Comparison of EULAR/PRINTO/PReS Ankara 2008 and 2022 ACR/EULAR classification criteria for granulomatosis with polyangiitis in children.
Kaya Akca U, Batu ED, Jelusic M, Calatroni M, Bakry R, Frkovic M, Vinšová N, Campos RT, Horne A, Caglayan S, Vaglio A, Moroni G, Emmi G, Ghiggeri GM, Koker O, Sinico RA, Kim S, Gagro A, Matucci-Cerinic C, Çomak E, Ekici Tekin Z, Arslanoglu Aydin E, Heshin-Bekenstein M, Acar BC, Gattorno M, Akman S, Sozeri B, Palmblad K, Al-Mayouf SM, Silva CA, Doležalová P, Merkel PA, Ozen S. Kaya Akca U, et al. Among authors: dolezalova p. Rheumatology (Oxford). 2024 Sep 1;63(SI2):SI122-SI128. doi: 10.1093/rheumatology/kead693. Rheumatology (Oxford). 2024. PMID: 38135503
Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial.
Ramanan AV, Quartier P, Okamoto N, Foeldvari I, Spindler A, Fingerhutová Š, Antón J, Wang Z, Meszaros G, Araújo J, Liao R, Keller S, Brunner HI, Ruperto N; JUVE-BASIS investigators; Paediatric Rheumatology International Trials Organisation. Ramanan AV, et al. Lancet. 2023 Aug 12;402(10401):555-570. doi: 10.1016/S0140-6736(23)00921-2. Epub 2023 Jul 6. Lancet. 2023. PMID: 37423231 Free article. Clinical Trial.
Microbiota transplant to control inflammation in a patient with NLRC4 gain-of-function-induced disease.
Bracaglia C, Marucci G, Del Chierico F, Russo A, Pardeo M, Pires Marafon D, Quagliariello A, Caiello I, Rea F, Fingerhutova S, Insalaco A, Prencipe G, Dolezalova P, De Benedetti F, Putignani L. Bracaglia C, et al. Among authors: dolezalova p. J Allergy Clin Immunol. 2023 Jul;152(1):302-303. doi: 10.1016/j.jaci.2023.03.031. Epub 2023 May 10. J Allergy Clin Immunol. 2023. PMID: 37178069 No abstract available.
Performance of the 2016 ACR-EULAR myositis response criteria in juvenile dermatomyositis therapeutic trials and consensus profiles.
Kim H, Saygin D, Douglas C, Wilkerson J, Erman B, Pistorio A, McGrath JA, Reed AM, Oddis CV, Bracaglia C, van Royen-Kerkhof A, Bica B, Dolezalova P, Ferriani VPL, Flato B, Bernard-Medina AG, Herlin T, Miller FW, Vencovsky J, Ruperto N, Aggarwal R, Rider LG; International Myositis Assessment and Clinical Studies Group (IMACS) and Paediatric Rheumatology INternational Trials Organization (PRINTO). Kim H, et al. Among authors: dolezalova p. Rheumatology (Oxford). 2023 Nov 2;62(11):3680-3689. doi: 10.1093/rheumatology/kead111. Rheumatology (Oxford). 2023. PMID: 36929918 Free PMC article.
88 results