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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. 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.
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F, Donaires FS, Pinto A, Vicente A, Dillon LW, Clé DV, Santana BA, Pirooznia M, Ibanez MDPF, Townsley DM, Kajigaya S, Hourigan CS, Cooper JN, Calado RT, Young NS. Gutierrez-Rodrigues F, et al. Genet Med. 2019 Jul;21(7):1594-1602. doi: 10.1038/s41436-018-0385-x. Epub 2018 Dec 7. Genet Med. 2019. PMID: 30523342 Free PMC article.
Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.
Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE. Fan X, et al. Blood Adv. 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. Blood Adv. 2020. PMID: 32330244 Free PMC article. Clinical Trial.
[No title available]
[No authors listed] [No authors listed] PMID: 32439728
Detectable mutations precede late myeloid neoplasia in aplastic anemia.
Patel BA, Ghannam J, Groarke EM, Goswami M, Dillon L, Gutierrez-Rodrigues F, Rios O, Raffo DQ, Lotter J, Young NS, Hourigan CS. Patel BA, et al. Haematologica. 2021 Feb 1;106(2):647-650. doi: 10.3324/haematol.2020.263046. Haematologica. 2021. PMID: 33054127 Free PMC article. No abstract available.
Eltrombopag monotherapy can improve hematopoiesis in patients with low to intermediate risk-1 myelodysplastic syndrome.
Vicente A, Patel BA, Gutierrez-Rodrigues F, Groarke E, Giudice V, Lotter J, Feng X, Kajigaya S, Weinstein B, Barranta E, Olnes MJ, Parikh AR, Albitar M, Wu CO, Shalhoub R, Calvo KR, Townsley DM, Scheinberg P, Dunbar CE, Young NS, Winkler T. Vicente A, et al. Haematologica. 2020 Dec 1;105(12):2785-2794. doi: 10.3324/haematol.2020.249995. Haematologica. 2020. PMID: 33256377 Free PMC article.
34 results