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Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C].
Renoux C, Feray C, Joly P, Lacan P, Francina A. Renoux C, et al. Among authors: joly p. Hemoglobin. 2015;39(3):147-51. doi: 10.3109/03630269.2015.1031243. Epub 2015 Jun 23. Hemoglobin. 2015. PMID: 26100115
Effect of Age on Blood Rheology in Sickle Cell Anaemia and Sickle Cell Haemoglobin C Disease: A Cross-Sectional Study.
Renoux C, Romana M, Joly P, Ferdinand S, Faes C, Lemonne N, Skinner S, Garnier N, Etienne-Julan M, Bertrand Y, Petras M, Cannas G, Divialle-Doumdo L, Nader E, Cuzzubbo D, Lamarre Y, Gauthier A, Waltz X, Kebaili K, Martin C, Hot A, Hardy-Dessources MD, Pialoux V, Connes P. Renoux C, et al. Among authors: joly p. PLoS One. 2016 Jun 29;11(6):e0158182. doi: 10.1371/journal.pone.0158182. eCollection 2016. PLoS One. 2016. PMID: 27355589 Free PMC article.
Alpha-thalassaemia promotes frequent vaso-occlusive crises in children with sickle cell anaemia through haemorheological changes.
Renoux C, Connes P, Nader E, Skinner S, Faes C, Petras M, Bertrand Y, Garnier N, Cuzzubbo D, Divialle-Doumdo L, Kebaïli K, Renard C, Gauthier A, Etienne-Julan M, Cannas G, Martin C, Hardy-Dessources MD, Pialoux V, Romana M, Joly P. Renoux C, et al. Among authors: joly p. Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26455. Epub 2017 Jan 18. Pediatr Blood Cancer. 2017. PMID: 28097791
Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].
Gueye Tall F, Martin C, Malick Ndour EH, Déme Ly I, Renoux C, Chillotti L, Veyrenche N, Connes P, Madieye Gueye P, Ndiaye Diallo R, Lacan P, Diagne I, Amadou Diop P, Cissé A, Lopez Sall P, Joly P. Gueye Tall F, et al. Among authors: joly p. Hemoglobin. 2017 Mar;41(2):89-95. doi: 10.1080/03630269.2017.1339610. Epub 2017 Jul 3. Hemoglobin. 2017. PMID: 28670947 Clinical Trial.
960 results