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A genetic score for the prediction of beta-thalassemia severity.
Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, Manca M, Sollaino MC, Manunza L, Mereu E, Marceddu G, Pissard S, Joly P, Thuret I, Origa R, Borg J, Forni GL, Piga A, Lai ME, Badens C, Moi P, Galanello R. Danjou F, et al. Among authors: joly p. Haematologica. 2015 Apr;100(4):452-7. doi: 10.3324/haematol.2014.113886. Epub 2014 Dec 5. Haematologica. 2015. PMID: 25480500 Free PMC article.
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].
Aguilar-Martinez P, Badens C, Bonello-Palot N, Cadet E, Couque N, Ducrocq R, Elion J, Francina A, Joly P, Pissard S, Rochette J; Réseay DHOS Pathologie héréditaire de l'érythrocyte. Aguilar-Martinez P, et al. Among authors: joly p. Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):455-64. doi: 10.1684/abc.2010.0457. Ann Biol Clin (Paris). 2010. PMID: 20650741 Free article. French.
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: joly p. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: joly p. Nucleic Acids Res. 2014 Jan;42(Database issue):D1063-9. doi: 10.1093/nar/gkt911. Epub 2013 Oct 16. Nucleic Acids Res. 2014. PMID: 24137000 Free PMC article.
961 results