Prelamin accumulation in primary endothelial cells induces premature senescence and activation

por Bonello-Palot, Nathalie, Badens, Catherine
Publicado 2015

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2

por Varlet, Alice-Anaïs, Helfer, Emmanuèle, Badens, Catherine
Publicado 2020

Syndromic diarrhea/Tricho-hepato-enteric syndrome

por Fabre, Alexandre, Martinez-Vinson, Christine, Goulet, Olivier, Badens, Catherine
Publicado 2013

Dynamics of Individual Red Blood Cells Under Shear Flow: A Way to Discriminate Deformability Alterations

por Atwell, Scott, Badens, Catherine, Charrier, Anne, Helfer, Emmanuèle, Viallat, Annie
Publicado 2022

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

por Dharmaraj, Tejas, Guan, Youchen, Liu, Julie, Badens, Catherine, Gaborit, Benedicte, Wilson, Katherine L.
Publicado 2019

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

por Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Publicado 2014

Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study

por Darrin, Maxime, Samudre, Ashwin, Sahun, Maxime, Atwell, Scott, Badens, Catherine, Charrier, Anne, Helfer, Emmanuèle, Viallat, Annie, Cohen-Addad, Vincent, Giffard-Roisin, Sophie
Publicado 2023

A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence

por Varlet, Alice-Anaïs, Desgrouas, Camille, Jebane, Cécile, Bonello-Palot, Nathalie, Bourgeois, Patrice, Levy, Nicolas, Helfer, Emmanuèle, Dubois, Noémie, Valero, René, Badens, Catherine, Beliard, Sophie
Publicado 2021

Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls

por Desgrouas, Camille, Varlet, Alice-Anaïs, Dutour, Anne, Galant, Damien, Merono, Françoise, Bonello-Palot, Nathalie, Bourgeois, Patrice, Lasbleiz, Adèle, Petitjean, Cathy, Ancel, Patricia, Levy, Nicolas, Badens, Catherine, Gaborit, Bénédicte
Publicado 2020

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

por Galant, Damien, Gaborit, Bénédicte, Desgrouas, Camille, Abdesselam, Ines, Bernard, Monique, Levy, Nicolas, Merono, Françoise, Coirault, Catherine, Roll, Patrice, Lagarde, Arnaud, Bonello-Palot, Nathalie, Bourgeois, Patrice, Dutour, Anne, Badens, Catherine
Publicado 2016

Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations

por Jebane, Cécile, Varlet, Alice-Anaïs, Karnat, Marc, Hernandez- Cedillo, Lucero M., Lecchi, Amélie, Bedu, Frédéric, Desgrouas, Camille, Vigouroux, Corinne, Vantyghem, Marie-Christine, Viallat, Annie, Rupprecht, Jean-François, Helfer, Emmanuèle, Badens, Catherine
Publicado 2023

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

por Vély, Frédéric, Barlogis, Vincent, Marinier, Evelyne, Coste, Marie-Edith, Dubern, Béatrice, Dugelay, Emmanuelle, Lemale, Julie, Martinez-Vinson, Christine, Peretti, Noël, Perry, Ariane, Bourgeois, Patrice, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Farnarier, Catherine, Fabre, Alexandre
Publicado 2018

Newborn Screening for Sickle Cell Disease in Europe

por Daniel, Yvonne, Elion, Jacques, Allaf, Bichr, Badens, Catherine, Bouva, Marelle J., Brincat, Ian, Cela, Elena, Coppinger, Cathy, de Montalembert, Mariane, Gulbis, Béatrice, Henthorn, Joan, Ketelslegers, Olivier, McMahon, Corrina, Streetly, Allison, Colombatti, Raffaella, Lobitz, Stephan
Publicado 2019

Three Mexican Families with β thalassemia intermedia with different molecular basis

por de la Torre, Lourdes del Carmen Rizo, Díaz, Francisco Javier Perea, Cortés, Bertha Ibarra, López, Víctor Manuel Rentería, López, Josefina Yoaly Sánchez, Anzaldo, Francisco Javier Sánchez, Torres, María Teresa Magaña, Gonnet, Katia, Badens, Catherine, Bonello-Palot, Nathalie
Publicado 2020

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

por Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent
Publicado 2013

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

por Picard, Véronique, Guitton, Corinne, Thuret, Isabelle, Rose, Christian, Bendelac, Laurence, Ghazal, Kaldoun, Aguilar-Martinez, Patricia, Badens, Catherine, Barro, Claire, Bénéteau, Claire, Berger, Claire, Cathébras, Pascal, Deconinck, Eric, Delaunay, Jacques, Durand, Jean-Marc, Firah, Nadia, Galactéros, Frédéric, Godeau, Bertrand, Jaïs, Xavier, de Jaureguiberry, Jean-Pierre, Le Stradic, Camille, Lifermann, François, Maffre, Robert, Morin, Gilles, Perrin, Julien, Proulle, Valérie, Ruivard, Marc, Toutain, Fabienne, Lahary, Agnès, Garçon, Loïc
Publicado 2019

Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience

por Rahal, Ilhem, Galambrun, Claire, Bertrand, Yves, Garnier, Nathalie, Paillard, Catherine, Frange, Pierre, Pondarré, Corinne, Dalle, Jean Hugues, de Latour, Regis Peffault, Michallet, Mauricette, Steschenko, Dominique, Moshous, Despina, Lutz, Patrick, Stephan, Jean Louis, Rohrlich, Pierre Simon, Yakoub-Agha, Ibrahim, Bernaudin, Françoise, Piguet, Christophe, Aladjidi, Nathalie, Badens, Catherine, Berger, Claire, Socié, Gérard, Dumesnil, Cécile, Castex, Marie Pierre, Poirée, Marilyne, Lambilliotte, Anne, Thomas, Caroline, Simon, Pauline, Auquier, Pascal, Michel, Gérard, Loundou, Anderson, Agouti, Imane, Thuret, Isabelle
Publicado 2018

P1451: PUBERTAL DEVELOPMENT OF TRANSFUSION DEPENDENT THALASSEMIA PATIENTS AT THE ERA OF ORAL CHELATION WITH DEFERASIROX: RESULTS OF THE FRENCH NATIONAL REGISTRY NATHALY

por Veneziano, Mathilde, Benoit, Audrey, Huguenin, Yoann, Lambilliotte, Anne, Castex, Marie-Pierre, Gourdon, Stephanie, Ithier, Ghislaine, Kebaili, Kamila, Rohrlich, Pierre-Simon, Pondarre, Corinne, Chamouine, Abdourahim, Simon, Pauline, Agbo-Kpati-Kokou, Placide, Allali, Slimane, Baron-Joly, Sandrine, Bayart, Sophie, Billaud, Nicolas, Brousse, Valentine, Dumesnil, Cecile, Garnier, Nathalie, Guichard, Isabelle, Joseph, Laure, Kamdem, Annie, Maitre, Julie, Mathey, Catherine, Paillard, Catherine, Phulpin, Aurélie, Renard, Cécile, Stoven, Cecile, Touati, Mohamed, Trochu, Capucine, Mathieu, Suzanne, Vergier, Julia, Badens, Catherine, Sarah, Szepetowski, Thuret, Isabelle
Publicado 2023

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

por Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publicado 2016