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143 results

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Page 1
Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations.
Jebane C, Varlet AA, Karnat M, Hernandez-Cedillo LM, Lecchi A, Bedu F, Desgrouas C, Vigouroux C, Vantyghem MC, Viallat A, Rupprecht JF, Helfer E, Badens C. Jebane C, et al. Among authors: badens c. iScience. 2023 Aug 25;26(10):107714. doi: 10.1016/j.isci.2023.107714. eCollection 2023 Oct 20. iScience. 2023. PMID: 37701573 Free PMC article.
[Health status and quality of life in β-thalassemia adults in Marseille, France].
Soubrier C, Jean E, De Sainte Marie B, Agouti I, Seguier J, Lavoipierre V, Clapasson C, Iline N, Gonin J, Giorgi R, Schleinitz N, Thuret I, Badens C, Bernit E. Soubrier C, et al. Among authors: badens c. Rev Med Interne. 2024 Apr;45(4):187-193. doi: 10.1016/j.revmed.2024.01.005. Epub 2024 Mar 21. Rev Med Interne. 2024. PMID: 38519305 French.
Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry.
Broccia MV, Vergier J, Benoit A, Huguenin Y, Lambilliotte A, Castex MP, Gourdon S, Ithier G, Kebaili K, Rohrlich P, Pondarre C, Chamouine A, Simon P, Kpati KPA, Allali S, Baron-Joly S, Bayart S, Billaud N, Brousse V, Dumesnil C, Garnier N, Guichard I, Joseph L, Kamdem A, Maitre J, Mathey C, Paillard C, Phulpin A, Renard C, Stoven C, Touati M, Trochu C, Nafissi SM, Badens C, Szepetowski S, Thuret I. Broccia MV, et al. Among authors: badens c. Haematologica. 2024 Feb 22. doi: 10.3324/haematol.2023.283610. Online ahead of print. Haematologica. 2024. PMID: 38385265 Free article.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: badens c. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
Szepetowski S, Berger C, Joly P, Baron-Joly S, Huguenin Y, Cantais A, Brun S, Ged C, Badens C, Thuret I, Giansily-Blaizot M, Pissard S, Aguilar-Martinez P. Szepetowski S, et al. Among authors: badens c. Am J Hematol. 2022 Nov;97(11):E393-E395. doi: 10.1002/ajh.26687. Epub 2022 Sep 2. Am J Hematol. 2022. PMID: 36052950 Free article. No abstract available.
New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.
Allegrini B, Jedele S, David Nguyen L, Mignotet M, Rapetti-Mauss R, Etchebest C, Fenneteau O, Loubat A, Boutet A, Thomas C, Durin J, Petit A, Badens C, Garçon L, Da Costa L, Guizouarn H. Allegrini B, et al. Among authors: badens c. Front Physiol. 2022 Aug 8;13:918620. doi: 10.3389/fphys.2022.918620. eCollection 2022. Front Physiol. 2022. PMID: 36003639 Free PMC article.
143 results