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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
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.
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: ospina cardona d.
Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286.
Blood. 2021.
PMID: 33690815
Free PMC article.
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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: ospina cardona d.
Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31.
Arthritis Rheumatol. 2021.
PMID: 33779074
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Novel genetic mutation in myositis-variant of VEXAS syndrome.
Topilow JS, Ospina Cardona D, Beck DB, Ferrada MA, McMahan ZH, Paik JJ.
Topilow JS, et al. Among authors: ospina cardona d.
Rheumatology (Oxford). 2022 Nov 28;61(12):e371-e373. doi: 10.1093/rheumatology/keac356.
Rheumatology (Oxford). 2022.
PMID: 35713495
Free PMC article.
No abstract available.
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Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.
Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, Manley AL, Li H, Ospina Cardona D, Kajigaya S, Alemu L, Quinones Raffo D, Ombrello AK, Ferrada MA, Grayson PC, Calvo KR, Kastner DL, Beck DB, Young NS.
Wu Z, et al. Among authors: ospina cardona d.
Cell Rep Med. 2023 Aug 15;4(8):101160. doi: 10.1016/j.xcrm.2023.101160.
Cell Rep Med. 2023.
PMID: 37586319
Free PMC article.
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Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace D, Casals F, Beck DB, Abuav R, Arostegui JI.
Ospina Cardona D, et al.
Rheumatology (Oxford). 2024 Mar 29:keae201. doi: 10.1093/rheumatology/keae201. Online ahead of print.
Rheumatology (Oxford). 2024.
PMID: 38552317
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