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Large deletions and small insertions and deletions in the factor VIII gene predict unfavorable immune tolerance induction outcome in people with severe hemophilia A and high-responding inhibitors.
Zuccherato LW, Souza RP, Camelo RM, Dias MM, Jardim LL, Santana MAP, Oliveira AG, Lorenzato CS, Cerqueira MH, Franco VKB, Ribeiro RA, Etto LY, Roberti MDRF, Callado FMA, de Cerqueira MAF, Pinto ISS, Garcia AA, Anegawa TH, Neves DCF, Tan DM, Tou RP, Chaves DG, van der Bom J, Rezende SM; HEMFIL Study and the Brazilian Immune Tolerance (BrazIT) Study. Zuccherato LW, et al. Among authors: roberti mdrf. Thromb Res. 2024 Oct;242:109115. doi: 10.1016/j.thromres.2024.109115. Epub 2024 Aug 14. Thromb Res. 2024. PMID: 39186847
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V. Lombardo A, et al. Among authors: roberti mc. Int J Mol Sci. 2024 Jun 24;25(13):6912. doi: 10.3390/ijms25136912. Int J Mol Sci. 2024. PMID: 39000022 Free PMC article.
High levels of anti-factor VIII immunoglobulin G4 and immunoglobulin G total are associated with immune tolerance induction failure in people with congenital hemophilia A and high-responding inhibitors.
Chaves DG, da Silva Santos BA, Zucherato LW, Dias MM, Lorenzato CS, de Oliveira AG, Cerqueira MH, de Albuquerque Ribeiro R, Etto LY, Franco VKB, Roberti MDRF, de Araújo Callado FMR, de Cerqueira MAF, Pinto I, Camelo RM, Rezende SM. Chaves DG, et al. Among authors: roberti mdrf. Res Pract Thromb Haemost. 2024 May 6;8(4):102436. doi: 10.1016/j.rpth.2024.102436. eCollection 2024 May. Res Pract Thromb Haemost. 2024. PMID: 38840663 Free PMC article.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Among authors: roberti mc. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
284 results