Justine Guguin, T.-H. Chen, Silvestre Cuinat, Alicia Besson, Eloïse Bertiaux, Lucile Boutaud, Nolan Ardito, Miren Imaz Murguiondo, Sara Cabet, Virginie Hamel, Sophie Thomas, Bertrand Pain, Patrick Edery, Audrey Putoux, Tang K. Tang, Sylvie Mazoyer, Marion Delous,
Taybi-Linder syndrome (TALS) is a rare autosomal recessive disorder characterized by severe microcephaly with abnormal gyral pattern, severe growth retardation and bone abnormalities. It is caused by pathogenic variants in the RNU4ATAC gene. Its transcript, the small nuclear RNA U4atac, is involved in the excision of ~850 minor introns. Here, we report a patient presenting with TALS features but no pathogenic variants were found in RNU4ATAC , instead the homozygous RTTN c.2953A>G variant was detected ...
Tópico(s): Genomics and Chromatin Dynamics
2024 - Public Library of Science | PLoS Genetics
Orianne Weizman, Marie Hauguel‐Moreau, Victoria Tea, Franck Albert, Paul Barragan, Jean‐Louis Georges, Nicolas Delarche, Mathieu Kerneïs, Vincent Bataille, Élodie Drouet, Étienne Puymirat, Jean Ferrières, François Schiele, Tabassome Simon, Nicolas Danchin, F Albert, Etienne Aliot, J Allal, Shamili Allam, G Allard-Latour, G. Amat, Max Amor, Mamy Andriambololona, Patrick Assayag, P Asseman, Jean Luc Banos, G Baradat, J Bardet, P Bareiss, C Barnay, Jean‐Pierre Bassand, M Baudouy, P Baudouy, G Baulleret, Pierre‐Louis Bazin, Philippe Beaufils, Y Beauverger, J Becquart, Loïc Belle, J Berland, Paul Bernard, E Beruben, Ginette Bessède, P Bickert, A Bineau-Jorisse, Judite Blanc, Didier Blanchard, A Bonneau, Philippe Bonnet, J. L. Bourdon, C Boureux, P Boutaud, J Bouvier, H. Brunel, Pierre‐André Cazenave, Romain Cador, P Cardinaud, B Carette, Carlioz, F Casteigt, Simon Cattan, Pierre Cazaux, C. Chaussard, B Charbonnier, J Chounet, O. Claudon, G Coatantiec, A Coeurderoy, G Convert, Pierre Coste, Paul Coulon, J Coupillaud, G Courdier, J-P Cressens, A Cribier, James J. Damato, P Dambrine, Nicolas Danchin, Xavier de Boisgelin, Nicolas Delarche, Gilles Dentan, S. Destrac, Régis Deturck, J Dewilde, Alain Dibié, P Djiane, Jean Philippe Doazan, P Druelles, Olivier Dubourg, F. Duclos, Jean-Jacques Dujardin, M N Dulhoste, Patrick Dupouy, J Elaerts, Elgohary, Simon Elhadad, M Escande-Orthlieb, H Escojido, B Estampes, P Eymerit, P Fichter, D Flammang, Maria Àngels Font, M Fourdilis, Pierre Fournier, M Francoual, P Fromage, D. Galley, Hanna Garnier, O Gauffre, L Genet, Philippe Geslin, Mohammed Ghanem, Sophie Godard, J.P. Godenir, C Goburdhun, D Grison, Gilles Grollier, C Gueniche, O Guenot, P Guéret, Yves Guérin, Juan Guillot, C. Gully, J-J Halary, G. Hannebicque, C Mycinski, M. Hanssen, D Heiligenstein, A Héraudeau, Philippe Hochart, Arnaud Hueber, R Huguet, Bruno Huret, H Jambert, Jebai, J L Jullien, Bernard Karsenty, K Khalifé, J.C. Kahn, Gilbert Kirkorian, P Lagorce, Lahneche, B Lancelin, Matthias Läng, P Lanteme, G Lapeyre, H Lardoux, A Lassabe, Yves Laurent, Floriane Leclercq, L Ledain, Thierry Lefévre, Coralie Lemoine, L. Levai, Le Marrec, P. Mabo, J Machecourt, Dominique Magnin, J-P Mailler, J-J Marier, Fabiano Di Marco, Jean-Louis Marcon, M Martelet, P. Meimoun, P Messner-Pellenc, Bertrand Mettauer, J-P Metzger, Thibaud Meurice, J P Monassier, Alban Le Monnier, Jacques Monségu, J M Montély, J Morice, Jean-Marie Mossard, Normand, Olive, Irina Oltean, J M Paemelaère, Franck Paganelli, Jean-Yves Pagny, M Pailloncy, M-C Palcoux, J L Parola, B Peltier, J-M Pernes, M Pichène, E Pierre-Justin, G Pochmalicki, O Poitrineau, J Ponsonnaille, J E Poulard, P Pruvost, Jean‐Luc Puel, P Quandalle, J C Quiret, Gaston Rébuffat, Riadh Rihani, B. Ritz, Philippe Rioux, J Rouffaud, D Rondepierre, J-F Ronteix, E. H. Saadouni, R Sader, P Sans, L Sarfati, B Sivery, M Slama, F-X Soto, X Tabone, François P. Thieuleux, Jean-Yves Thisse, G Thourot, M. Tissot, T-A Tissot, C Toussaint, G Traisnel, Tran, G Trémeau, A Vahanian, Patrik Michel, B Valeix, Bruno Vahdat, H Vergnouix, M Viallet, D Vilarem, P Virot, J Vittrant, Stefan Weber, J.E. Wolf, P. Wyart, Angelika Zabel, M Zupan Sihcus, Y Cottin, P Coste, T Lognogne, G. Roul, Brigitte De Breyne, Florence Moulin, K Khalifé, G. Vanzetto, Didier Carrié, B. Jouve, Guillaume Leurent, F Schiele, Laure Hammer, Élodie Faure, J Boschat, J Boschat, B. Ritz, B. Ritz, Christophe Le Ray, V. Lucke, V. Lucke, Gilles Rouault, Jean‐Pierre Faure, Floriane Leclercq, Christophe Robin, Christophe Robin, P Asseman, P Asseman, Laurent Schmutz, Laurent Schmutz, Jean Yves Wiedemann, Jean Yves Wiedemann, G Pacouret, G Pacouret, J. Schwob, L. Orion, M. Moujahid, P Druelles, P Druelles, Jean Fajadet, Jean Fajadet, J. M. Perron, P Henry, Grégory Ducrocq, Christophe Tron, Christophe Tron, Nathalie Duvilla, Simon Elhadad, T Demichéli, V Rouselle, S. Cazaux, L Genet, L Genet, B. Herce, Jean Luc Banos, G. Jarry, H Benamer, J M Montély, Franck Paganelli, Franck Paganelli, Régis Delaunay, Gilles Dentan,
Abstract Aims Women are less likely to receive lipid-lowering therapy (LLT) after acute myocardial infarction (AMI). We analysed whether this under-prescription currently persists and has an impact on long-term outcomes. Methods and results The FAST-MI programme consists of nationwide registries including all patients admitted for AMI ≤ 48 h from onset over a 1 month period in 2005, 2010, and 2015, with long-term follow-up. This analysis focused on high-intensity LLT (atorvastatin ≥ 40 mg or equivalent, ...
Oxford University Press
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann, Cécile Acquaviva, Flavie Ader, Salma Adham, Dalila Adjaoud, Alexandra Afenjar, Nathalie Aladjidi, Anne‐Sophie Alary, F. Albarel, Sabrina Albert, Lise Allard, Ingrid Allix, Violaine Alunni, Inês F. Amado, Cyril Amouroux, Nicolas André, Chloé Angelini, Mathieu Anheim, Ignacio Antolin Sanfelliz, Thomas Aparicio, Chloé Arfeuille, J Arlet, Lionel Arnaud, Pauline Arnaud, Guilhem Arnold, Tania Attié‐Bitach, Marion Aubert‐Mucca, Isabelle Audo, Marie‐Pierre Audrézet, Maxime Auroux, Céline Auzanneau, Xavier Ayrignac, Ibrahima Ba, Anne Bachelot, Delphine Bacq, Séverine Bacrot, Brigitte Bader‐Meunier, Sarah Baer, Stéphanie Baert‐Desurmont, Laurence Bal-Theoleyre, Ralyath Balogoun, Philippe Baltzinger, Guillaume Banneau, Claire Bar, Audrey Barbet, Giulia Barcia, Laure Barjhoux, Anne Barlier, Vincent Barlogis, Marc Barritault, Magalie Barth, Aurore Barthod-Malat, Peggy Baudouin-Cornu, Geneviève Baujat, Amandine Baurand, Jacques‐Olivier Bay, Michèle Beau‐Faller, Jean-Christophe Beaudoin, Rémi Bellance, Christine Bellanné‐Chantelot, C. Bellera, Alexandre Bélot, Raihane Ben Abdeljelil, Rihab Ben Sghaier, Joy Benadiba, S Bénard, Claire Bénéteau, Karelle Bénistan, Fouzia Benkerdou, Mehdi Benkirane, Jean‐François Benoist, Patrick R. Benusiglio, Camille Bergès, Anne Bergougnoux, Maureen Bernadach, Emilien Bernard, Valérie Bernard, Virginie Bernard, Dounia Beroug, Aurélie Berrard, Jérôme Bertherat, Pascaline Berthet, Clotilde Berthier, Aurélia Bertholet‐Thomas, Jean‐Philippe Bertocchio, François Bertucci, Céline Besse, Elsa Besse-Pinot, D. Bessis, Pauline Beuvain, Stéphane Bézieau, Marie Bidart, Ivan Bièche, Margaux Biehler, Thierry Bienvenu, Frédéric Bilan, Clarisse Billon, Christine Binquet, Élise Bismuth, Varoona Bizaoui, Pierre Blanc, Hélène Blanché, Jean‐Yves Blay, Adrien Bloch, Gilles Bloch, Agnès Bloch‐Zupan, Béatrice Bocquet, Morgane Boedec, Cathérine Boileau, Marjorie Boissinot, Anne Boland, Pierre‐Adrien Bolze, Valérie Bonadona, Julia Bonastre, Nathalie Bonello‐Palot, A. Bonnard, Raphaël Borie, Damien Botsen, Mohamed Bouattour, Marion Bouctot, Natacha Bouhours‐Nouet, Jérôme Bouligand, Ahmed Bouras, Thomas Bourgeron, Jean-Louis Bourges, Emmanuelle Bourrat, Guilaine Boursier, Guilhem Bousquet, Philippe‐Jean Bousquet, Simon Boussion, Lucile Boutaud, Julian Boutin, Patrice Bouvagnet, Claire Bouvattier, Sandrine Boyault, Aude Brac de la Perrière, Mehdi Brahmi, Valentine Brard, Mathilde Brasseur, Nadège Brazzalotto, Dominique Brémond‐Gignac, Audrey Briand‐Suleau, Claire Briet, Pierre‐Paul Bringuier, Céline Bris, Elise Brischoux‐Boucher, Karine Brochard, Martin Broly, Laura Brosseau, Ange‐Line Bruel, Perrine Brunelle, Virginie Bubien, Bruno Buecher, Alexandre Buffet, Adrien Buisson, Lydie Bürglen, Cyril Burin des Roziers, Nelly Burnichon, Tiffany Busa, Mathilde Cabart, Sara Cabet, Charlotte Caille-Benigni, Claire Caillot, Christophe Calvin, Anne Cambon‐Thomsen, Claude Cancès, Alexandre Cantan, Liana Carausu, Aurélia Carbasse, Cédric Carbonneil, Bertrand Cariou, Olivier Caron, Sylvain Carras, Stéphanie Cartalat, Kévin Cassinari, Martin Castelle, Laurent Castéra, Frédéric Castinetti, Julie Catteau, Roseline Caumes, Aurélien Caux, Mathias Cavaillé, Hélène Cavé, Aurélie Caye‐Eude, Cécile Cazeneuve, Tristan Celse, Noémie Celton, Camille Cenni, Jasmin Cévost, Rania Chaabna, B. Chabrol, Ilyas Challet, Clélia Chalumeau, Pascal Chambon, Albain Chansavang, Jean‐Baptiste Chanson, Sébastien Chapelant, Fabienne Charbit‐Henrion, Perrine Charles, Sybil Charrière, Philippe Charron, Nicolas Chassaing, Nicolas Chatron, Boris Chaumette, Catherine Chaussain, Annabelle Chaussenot, David Cheillan, Olivier Chenavier, Bertrand Chesneau, Louise-Marie Chevalier, Christine Chomienne, C. Chougnet, Sophie Christin‐Maître, Marine Chuet, Emmanuelle Clappier, Johanna Clet, Mélanie Cloteau, Thomas Cluzeau, Guillaume Cogan, Benjamin Cogné, Alicia J. Cohen, Camille Cohen, Odile Cohen‐Haguenauer, Martine Cohen‐Solal, Chrystelle Colas, Estelle Colin, Corinne Collet, Delphine Collin‐Chavagnac, Eloïse Colliou, Marie‐Agnès Collonge‐Rame, Maxime Colmard, Stéphanie Coopman, Lucie Coppin, Elodie Coquan, Valérie Cormier‐Daire, Nadège Corradini, Carole Corsini, Mireille Cossée, Thibault Coste, Sophie Cotteret, Rachel Cottet, Christine Coubes, Florence Coulet, Nathalie Couque, Philippe Couratier, Marie Courbebaisse, Olivier Courbette, Cécile Courdier, Juliette Coursimault, Thomas Courtin, Lucien Courtois, Fabienne Coury, Laure Coutos-Thévenot, Charles Coutton, Isabelle Creveaux, Étienne Crickx, Louise Crivelli, Marc Cuggia, Laurence Cuisset, Hubert Curcio, Aurore Curie, Véronica Cusin, Nuno Costa, L. Cruz, Eric Dahlen, Antoine Dardenne, Benjamin Dauriat, Nell Dausse, Alix de Becdelièvre, Florence de Fraipont, Elisa De La Cruz, Thibault De La Motte Rouge, Sandrine de Montgolfier, Antoine De Pauw, Aurélien de Reyniès, Jean‐Madeleine de Sainte Agathe, Marie de Tayrac, Anne Sophie Defachelles, Michaël Degaud, Caroline Deiller, Éric Delabesse, Leslie Delachaux, Andrée Delahaye‐Duriez, Jean-François Deleuze, Hélène Delhomelle, Christelle Delmas, Capucine Delnatte, C. Delorme, Richard Delorme, Bénédicte Demeer, Caroline Demilly, Philippe Denizeau,
Summary Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patients. France was one of the first countries to integrate genome sequencing into clinical practice at a nationwide level, with the ambition to provide more accurate diagnostics and personalized treatments. Since 2016, the French government has invested €239M in the 2025 French Genomic Medicine Initiative (PFMG2025) ...
Elsevier BV