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A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis.
Planté-Bordeneuve V, Gorram F, Olsson M, Anan I, Mazzeo A, Gentile L, Cisneros-Barroso E, Gonzalez-Moreno J, Losada I, Waddington-Cruz M, Pinto LF, Parman Y, Fanen P, Alarcon F, Nuel G. Planté-Bordeneuve V, et al. Among authors: alarcon f. Amyloid. 2023 Sep;30(3):313-320. doi: 10.1080/13506129.2023.2178891. Epub 2023 Feb 21. Amyloid. 2023. PMID: 36994840
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, Corsini C, Nuel G, Terris B, Laurent-Puig P, Chaussade S, Dhooge M, Madru C, Clauser E. Hamzaoui N, et al. Among authors: alarcon f. Genet Med. 2020 Sep;22(9):1533-1541. doi: 10.1038/s41436-020-0828-z. Epub 2020 May 19. Genet Med. 2020. PMID: 32424176 Free article.
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Schramm C, Charbonnier C, Zaréa A, Lacour M, Wallon D; CNRMAJ collaborators; Boland A, Deleuze JF, Olaso R; ADES consortium; Alarcon F, Campion D, Nuel G, Nicolas G. Schramm C, et al. Among authors: alarcon f. Genome Med. 2022 Aug 3;14(1):83. doi: 10.1186/s13073-022-01091-1. Genome Med. 2022. PMID: 35922859 Free PMC article. No abstract available.
169 results