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581 results

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Page 1
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: savic s. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Rowczenio DM, Gomes SM, Aróstegui JI, Mensa-Vilaro A, Omoyinmi E, Trojer H, Baginska A, Baroja-Mazo A, Pelegrin P, Savic S, Lane T, Williams R, Brogan P, Lachmann HJ, Hawkins PN. Rowczenio DM, et al. Among authors: savic s. Front Immunol. 2017 Oct 31;8:1410. doi: 10.3389/fimmu.2017.01410. eCollection 2017. Front Immunol. 2017. PMID: 29163488 Free PMC article.
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Rowczenio DM, Pathak S, Arostegui JI, Mensa-Vilaro A, Omoyinmi E, Brogan P, Lipsker D, Scambler T, Owen R, Trojer H, Baginska A, Gillmore JD, Wechalekar AD, Lane T, Williams R, Youngstein T, Hawkins PN, Savic S, Lachmann HJ. Rowczenio DM, et al. Among authors: savic s. Blood. 2018 Mar 1;131(9):974-981. doi: 10.1182/blood-2017-10-810366. Epub 2017 Dec 28. Blood. 2018. PMID: 29284595 Free PMC article. Clinical Trial.
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, Bowen DT, Cunnington JR, Baguley E, Quinn M, Green M, McGonagle D, Beck DB, Werner A, Savic S. Poulter JA, et al. Among authors: savic s. Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286. Blood. 2021. PMID: 33690815 Free PMC article.
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC. Ferrada MA, et al. Among authors: savic s. Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31. Arthritis Rheumatol. 2021. PMID: 33779074
Canakinumab improves patient-reported outcomes in children and adults with autoinflammatory recurrent fever syndromes: results from the CLUSTER trial.
Lachmann HJ, Lauwerys B, Miettunen P, Kallinich T, Jansson A, Rosner I, Manna R, Murias S, Savic S, Smeets S, De Benedetti F, Simon A. Lachmann HJ, et al. Among authors: savic s. Clin Exp Rheumatol. 2021 Sep-Oct;39 Suppl 132(5):51-58. doi: 10.55563/clinexprheumatol/e92f7o. Epub 2021 Oct 6. Clin Exp Rheumatol. 2021. PMID: 34622762 Free article. Clinical Trial.
581 results