Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

Por Fabre, Alexandre, Badens, Catherine
Publicado em 2014

Prelamin accumulation in primary endothelial cells induces premature senescence and activation

Por Bonello-Palot, Nathalie, Badens, Catherine
Publicado no Orphanet J Rare Dis (2015)

Syndromic diarrhea/Tricho-hepato-enteric syndrome

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

Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel

Por Rapetti-Mauss, Raphael, Soriani, Olivier, Vinti, Henri, Badens, Catherine, Guizouarn, Hélène
Publicado no Haematologica (2016)

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype

Por Joly, Philippe, Schluth-Bolard, Caroline, Lacan, Philippe, Barro, Claire, Pissard, Serge, Labalme, Audrey, Sanlaville, Damien, Badens, Catherine
Publicado em 2013

Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease

Por Badens, Catherine, Joly, Philippe, Agouti, Imane, Thuret, Isabelle, Gonnet, Katia, Fattoum, Synda, Francina, Alain, Simeoni, Marie-Claude, Loundou, Anderson, Pissard, Serge
Publicado em 2011

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 em 2014

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 no Cells (2016)

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Por Fabre, Alexandre, Charroux, Bernard, Martinez-Vinson, Christine, Roquelaure, Bertrand, Odul, Egritas, Sayar, Ersin, Smith, Hilary, Colomb, Virginie, Andre, Nicolas, Hugot, Jean-Pierre, Goulet, Olivier, Lacoste, Caroline, Sarles, Jacques, Royet, Julien, Levy, Nicolas, Badens, Catherine
Publicado em 2012

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Por Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas, Girard, Nadine, Sarda, Pierre, Boespflug-Tanguy, Odile, Villard, Laurent
Publicado em 2013

Complications and treatment of patients with β-thalassemia in France: results of the National Registry

Por Thuret, Isabelle, Pondarré, Corinne, Loundou, Anderson, Steschenko, Dominique, Girot, Robert, Bachir, Dora, Rose, Christian, Barlogis, Vincent, Donadieu, Jean, de Montalembert, Mariane, Hagege, Isabelle, Pegourie, Brigitte, Berger, Claire, Micheau, Marguerite, Bernaudin, Françoise, Leblanc, Thierry, Lutz, Laurence, Galactéros, Frédéric, Siméoni, Marie-Claude, Badens, Catherine
Publicado em 2010

A genetic score for the prediction of beta-thalassemia severity

Por Danjou, Fabrice, Francavilla, Marcella, Anni, Franco, Satta, Stefania, Demartis, Franca-Rosa, Perseu, Lucia, Manca, Matteo, Sollaino, Maria Carla, Manunza, Laura, Mereu, Elisabetta, Marceddu, Giuseppe, Pissard, Serge, Joly, Philippe, Thuret, Isabelle, Origa, Raffaella, Borg, Joseph, Forni, Gian Luca, Piga, Antonio, Lai, Maria Eliana, Badens, Catherine, Moi, Paolo, Galanello, Renzo
Publicado no Haematologica (2015)

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Por Navarro, Claire Laure, Esteves-Vieira, Vera, Courrier, Sébastien, Boyer, Amandine, Duong Nguyen, Thuy, Huong, Le Thi Thanh, Meinke, Peter, Schröder, Winnie, Cormier-Daire, Valérie, Sznajer, Yves, Amor, David J, Lagerstedt, Kristina, Biervliet, Martine, van den Akker, Peter C, Cau, Pierre, Roll, Patrice, Lévy, Nicolas, Badens, Catherine, Wehnert, Manfred, De Sandre-Giovannoli, Annachiara
Publicado no Eur J Hum Genet (2014)

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 em 2013

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 no Neurology (2016)