Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2 by Alice-Anaïs Varlet, Emmanuèle Helfer, Catherine Badens

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Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel by Raphael Rapetti-Mauss, Olivier Soriani, Henri Vinti, Catherine Badens, Hélène Guizouarn

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First case of γ-thalassemia in association with a βS allele: a pitfall in the neonatal screening for sickle cell disease by Caroline Lacoste, Nathalie Bonello-Palot, Katia Gonnet, Françoise Merono, Nicolas Levy, Isabelle Thuret, Catherine Badens

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HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype by Philippe Joly, Caroline Schluth-Bolard, Philippe Lacan, Claire Barro, Serge Pissard, Audrey Labalme, Damien Sanlaville, Catherine Badens

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Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis by Raphaël Rapetti-Mauss, Véronique Picard, Corinne Guitton, Khaldoun Ghazal, Valérie Proulle, Catherine Badens, Olivier Soriani, Loïc Garçon, Hélène Guizouarn

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Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease by Catherine Badens, Philippe Joly, Imane Agouti, Isabelle Thuret, Katia Gonnet, Synda Fattoum, Alain Francina, Marie-Claude Simeoni, Anderson Loundou, Serge Pissard

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Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study by Maxime Darrin, Ashwin Samudre, Maxime Sahun, Scott Atwell, Catherine Badens, Anne Charrier, Emmanuèle Helfer, Annie Viallat, Vincent Cohen-Addad, Sophie Giffard-Roisin

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A Rare Mutation in <i>LMNB2</i> Associated with Lipodystrophy Drives Premature Cell Senescence by Alice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, Nathalie Bonello-Palot, Patrice Bourgeois, Nicolas Levy, Emmanuèle Helfer, Noémie Dubois, René Valero, Catherine Badens, Sophie Beliard

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Unraveling <i>LMNA</i> Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls by Camille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, Damien Galant, Françoise Merono, Nathalie Bonello-Palot, Patrice Bourgeois, Adèle Lasbleiz, Cathy Petitjean, Patricia Ancel, Nicolas Levy, Catherine Badens, Bénédicte Gaborit

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A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy by Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine Badens

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Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations by Cécile Jebane, Alice-Anaïs Varlet, Marc Karnat, Lucero M. Hernandez- Cedillo, Amélie Lecchi, Frédéric Bedu, Camille Desgrouas, Corinne Vigouroux, Marie-Christine Vantyghem, Annie Viallat, Jean-François Rupprecht, Emmanuèle Helfer, Catherine Badens

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Newborn Screening for Sickle Cell Disease in Europe by Yvonne Daniel, Jacques Elion, Bichr Allaf, Catherine Badens, Marelle J. Bouva, Ian Brincat, Elena Cela, Cathy Coppinger, Mariane de Montalembert, Béatrice Gulbis, Joan Henthorn, Olivier Ketelslegers, Corrina McMahon, Allison Streetly, Raffaella Colombatti, Stephan Lobitz

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Complications and treatment of patients with β-thalassemia in France: results of the National Registry by Isabelle Thuret, Corinne Pondarré, Anderson Loundou, Dominique Steschenko, Robert Girot, Dora Bachir, Christian Rose, Vincent Barlogis, Jean Donadieu, Mariane de Montalembert, Isabelle Hagege, Brigitte Pegourie, Claire Berger, Marguerite Micheau, Françoise Bernaudin, Thierry Leblanc, Laurence Lutz, Frédéric Galactéros, Marie-Claude Siméoni, Catherine Badens

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A genetic score for the prediction of beta-thalassemia severity by Fabrice Danjou, Marcella Francavilla, Franco Anni, Stefania Satta, Franca-Rosa Demartis, Lucia Perseu, Matteo Manca, Maria Carla Sollaino, Laura Manunza, Elisabetta Mereu, Giuseppe Marceddu, Serge Pissard, Philippe Joly, Isabelle Thuret, Raffaella Origa, Joseph Borg, Gian Luca Forni, Antonio Piga, Maria Eliana Lai, Catherine Badens, Paolo Moi, Renzo Galanello

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Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients by Véronique Picard, Corinne Guitton, Isabelle Thuret, Christian Rose, Laurence Bendelac, Kaldoun Ghazal, Patricia Aguilar-Martinez, Catherine Badens, Claire Barro, Claire Bénéteau, Claire Berger, Pascal Cathébras, Eric Deconinck, Jacques Delaunay, Jean-Marc Durand, Nadia Firah, Frédéric Galactéros, Bertrand Godeau, Xavier Jaïs, Jean-Pierre de Jaureguiberry, Camille Le Stradic, François Lifermann, Robert Maffre, Gilles Morin, Julien Perrin, Valérie Proulle, Marc Ruivard, Fabienne Toutain, Agnès Lahary, Loïc Garçon

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Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience by Ilhem Rahal, Claire Galambrun, Yves Bertrand, Nathalie Garnier, Catherine Paillard, Pierre Frange, Corinne Pondarré, Jean Hugues Dalle, Regis Peffault de Latour, Mauricette Michallet, Dominique Steschenko, Despina Moshous, Patrick Lutz, Jean Louis Stephan, Pierre Simon Rohrlich, Ibrahim Yakoub-Agha, Françoise Bernaudin, Christophe Piguet, Nathalie Aladjidi, Catherine Badens, Claire Berger, Gérard Socié, Cécile Dumesnil, Marie Pierre Castex, Marilyne Poirée, Anne Lambilliotte, Caroline Thomas, Pauline Simon, Pascal Auquier, Gérard Michel, Anderson Loundou, Imane Agouti, Isabelle Thuret

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P1451: PUBERTAL DEVELOPMENT OF TRANSFUSION DEPENDENT THALASSEMIA PATIENTS AT THE ERA OF ORAL CHELATION WITH DEFERASIROX: RESULTS OF THE FRENCH NATIONAL REGISTRY NATHALY by Mathilde Veneziano, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie-Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre-Simon Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Placide Agbo-Kpati-Kokou, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurélie Phulpin, Cécile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu, Julia Vergier, Catherine Badens, Szepetowski Sarah, Isabelle Thuret

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Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry by Mathilde Veneziano Broccia, Julia Vergier, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Kokou Placide Agbo Kpati, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurelie Phulpin, Cecile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu Nafissi, Catherine Badens, Sarah Szepetowski, Isabelle Thuret

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P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL by C Coralea Stephanou, P Petros Kountouris, C Carsten W Lederer, C Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, J John S Waye, Z Zhiyu Peng, I Irene Fylaktou, H Hashim Halim-Fikri, T Tamara T. Koopmann, L Landry Nfonsam, J Jun Sun, F Franck Nzengu-Lukusa, M Michael Angastiniotis, C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen, J Jacques Elion, S Suthat Fucharoen, K Kyriaki Michailidou, T Thessalia Papasavva, A Antonio Piga, R Raj Ramesar, S Swee Lay Thein, L Léon Tshilolo, Z Zilfalil Bin Alwi, M Marina Kleanthous

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