520 results on '"Toutain A"'
Search Results
2. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
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Deb, Wallid, primary, Rosenfelt, Cory, additional, Vignard, Virginie, additional, Papendorf, Jonas Johannes, additional, Möller, Sophie, additional, Wendlandt, Martin, additional, Studencka-Turski, Maja, additional, Cogné, Benjamin, additional, Besnard, Thomas, additional, Ruffier, Léa, additional, Toutain, Bérénice, additional, Poirier, Léa, additional, Cuinat, Silvestre, additional, Kritzer, Amy, additional, Crunk, Amy, additional, diMonda, Janette, additional, Vengoechea, Jaime, additional, Mercier, Sandra, additional, Kleinendorst, Lotte, additional, van Haelst, Mieke M., additional, Zuurbier, Linda, additional, Sulem, Telma, additional, Katrínardóttir, Hildigunnur, additional, Friðriksdóttir, Rún, additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Jonsdottir, Berglind, additional, Zeidler, Shimriet, additional, Sinnema, Margje, additional, Stegmann, Alexander P.A., additional, Naveh, Natali, additional, Skraban, Cara M., additional, Gray, Christopher, additional, Murrell, Jill R., additional, Isikay, Sedat, additional, Pehlivan, Davut, additional, Calame, Daniel G., additional, Posey, Jennifer E., additional, Nizon, Mathilde, additional, McWalter, Kirsty, additional, Lupski, James R., additional, Isidor, Bertrand, additional, Bolduc, François V., additional, Bézieau, Stéphane, additional, Krüger, Elke, additional, Küry, Sébastien, additional, and Ebstein, Frédéric, additional
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- 2024
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3. Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
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Ebstein, Frédéric, primary, Latypova, Xenia, additional, Sharon Hung, Ka Ying, additional, Prado, Miguel A., additional, Lee, Byung-Hoon, additional, Möller, Sophie, additional, Wendlandt, Martin, additional, Zieba, Barbara A., additional, Florenceau, Laëtitia, additional, Vignard, Virginie, additional, Poirier, Léa, additional, Toutain, Bérénice, additional, Moroni, Isabella, additional, Dubucs, Charlotte, additional, Chassaing, Nicolas, additional, Horvath, Judit, additional, Prokisch, Holger, additional, Küry, Sébastien, additional, Bézieau, Stéphane, additional, Paulo, Joao A., additional, Finley, Daniel, additional, Krüger, Elke, additional, Ghezzi, Daniele, additional, and Isidor, Bertrand, additional
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- 2024
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4. Assessing the role of non-native species and artificial water bodies on the trophic and functional niche of Mediterranean freshwater fish communities
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Toutain, Mathieu, primary, Belouard, Nadège, additional, Renault, David, additional, Haubrock, Phillip J., additional, Kurtul, Irmak, additional, Aksu, Sadi, additional, Emiroğlu, Özgür, additional, Kouba, Antonín, additional, Tarkan, Ali Serhan, additional, and Balzani, Paride, additional
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- 2024
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5. Population pharmacokinetic meta-analysis of five beta-lactams antibiotics to support dosing regimens in dogs for surgical antimicrobial prophylaxis
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Pelligand, L., primary, Sørensen, T. Møller, additional, Cagnardi, P., additional, Toutain, P-L., additional, and Allerton, F., additional
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- 2024
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6. Antimicrobial prophylaxis in companion animal surgery: A scoping review for European Network for Optimization of Antimicrobial Therapy (ENOVAT) guidelines
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Sørensen, T.M., primary, Scahill, K., additional, Ruperez, J. Espinel, additional, Olejnik, M., additional, Swinbourne, F., additional, Verwilghen, D.R., additional, Nolff, M.C., additional, Baines, S., additional, Marques, C., additional, Vilen, A., additional, Duarte, E.L., additional, Dias, M., additional, Dewulf, S., additional, Wichtowska, A., additional, Valencia, A. Carranza, additional, Pelligand, L., additional, Broens, E.M., additional, Toutain, P.L., additional, Alishani, M., additional, Brennan, M.L., additional, Weese, J.S., additional, Jessen, L.R., additional, and Allerton, F., additional
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- 2024
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7. The RELIVE consortium for relapsed or refractory pediatric hepatoblastoma and hepatocellular carcinoma: a scoping review of the problem and a proposed solution
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O’Neill, Allison F., primary, Trobaugh-Lotrario, Angela, additional, Geller, James I., additional, Hiyama, Eiso, additional, Watanabe, Kenichiro, additional, Aerts, Isabelle, additional, Fresneau, Brice, additional, Toutain, Fabienne, additional, Sullivan, Michael J., additional, Katzenstein, Howard M., additional, Morland, Bruce, additional, Branchereau, Sophie, additional, Zsiros, József, additional, Maibach, Rudolf, additional, and Ansari, Marc, additional
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- 2024
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8. Gestion des stomies digestives de l’adulte : recommandations francaises 2023
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Aubert, Mathilde, primary, Buscail, Étienne, additional, Duchalais, Émilie, additional, Cazelles, Antoine, additional, Collard, Maxime, additional, Charleux-Muller, Diane, additional, Jeune, Florence, additional, Nuzzo, Alexandre, additional, Pellegrin, Alexandra, additional, Theuil, Luca, additional, Toutain, Amandine, additional, Trilling, Bertrand, additional, Siproudhis, Laurent, additional, Meurette, Guillaume, additional, Lefevre, Jérémie H., additional, Maggiori, Léon, additional, and Mege, Diane, additional
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- 2024
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9. Management of adult intestinal stomas: The 2023 French guidelines
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Aubert, Mathilde, primary, Buscail, Etienne, additional, Duchalais, Emilie, additional, Cazelles, Antoine, additional, Collard, Maxime, additional, Charleux-Muller, Diane, additional, Jeune, Florence, additional, Nuzzo, Alexandre, additional, Pellegrin, Alexandra, additional, Theuil, Luca, additional, Toutain, Amandine, additional, Trilling, Bertrand, additional, Siproudhis, Laurent, additional, Meurette, Guillaume, additional, Lefevre, Jérémie H., additional, Maggiori, Léon, additional, and Mege, Diane, additional
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- 2024
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10. Physical Activity Attenuates Brain Irradiation-Associated Skeletal Muscle Damage in the Rat
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Bécam, Julie, primary, Ropars, Gwenn, additional, Dwiri, Fatima-Azzahra, additional, Brunaud, Carole, additional, Toutain, Jérôme, additional, Chazalviel, Laurent, additional, Naveau, Mikaël, additional, Valable, Samuel, additional, Bernaudin, Myriam, additional, Touzani, Omar, additional, and Pérès, Elodie Anne, additional
- Published
- 2023
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11. Surgery in rare bleeding disorders: the prospective MARACHI study
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Rousseau, Florence, primary, Guillet, Benoit, additional, Mura, Thibault, additional, Fournel, Alexandra, additional, Volot, Fabienne, additional, Chambost, Hervé, additional, Suchon, Pierre, additional, Frotscher, Brigit, additional, Biron-Andréani, Christine, additional, Marlu, Raphaël, additional, Hezard, Nathalie, additional, Clayssens, Ségolène, additional, Boissier, Elodie, additional, Blanc-Jouvan, Florence, additional, Chamouni, Pierre, additional, Tieulie, Nathalie, additional, Rugeri, Lucia, additional, Borel-Derlon, Annie, additional, de Raucourt, Emmanuelle, additional, Martin-Toutain, Isabelle, additional, Castet, Sabine, additional, Lebreton, Aurélien, additional, Girault, Stéphane, additional, Helley-Russick, Dominique, additional, D’Oiron, Roseline, additional, Schved, Jean-François, additional, and Giansily-Blaizot, Muriel, additional
- Published
- 2023
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12. French National Diagnostic and Care Protocol for antiphospholipid syndrome in adults and children
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Amoura, Z., primary, Bader-Meunier, B., additional, BAL dit Sollier, C., additional, Belot, A., additional, Benhamou, Y., additional, Bezanahary, H., additional, Cohen, F., additional, Costedoat-Chalumeau, N., additional, Darnige, L., additional, Drouet, L., additional, Elefant, E., additional, Harroche, A., additional, Lambert, M., additional, Martin, T., additional, Martin-Toutain, I., additional, Mathian, A., additional, Mekinian, A., additional, Pineton De Chambrun, M., additional, de Pontual, L., additional, Wahl, D., additional, Yelnik, C., additional, Zuily, S., additional, Chauveau, D., additional, Clouscard, J., additional, Frere, C., additional, Hachulla, E., additional, Kone-Paut, I., additional, Lasne, D., additional, Lecompte, T., additional, Le Guern, V., additional, Ni Zard, J., additional, Papo, T., additional, Riviere, M., additional, Schleinitz, N., additional, and Tossier, B., additional
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- 2023
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13. Tracking long-term shifts in non-native freshwater macroinvertebrates across three European countries
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Toutain, Mathieu, primary, Soto, Ismael, additional, Rasmussen, Jes Jessen, additional, Csabai, Zoltán, additional, Várbíró, Gábor, additional, Murphy, John F., additional, Balzani, Paride, additional, Kouba, Antonín, additional, Renault, David, additional, and Haubrock, Phillip J., additional
- Published
- 2023
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14. Impact of high-fat diet on mitochondrial dynamics in Abdominal Aortic Aneurysm
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Baptista Vicente, Alicia, primary, Richard, Alexis, additional, Eid, Maroua, additional, Toutain-Barbelivien, Agnès, additional, Grimaud, Linda, additional, Toutain, Bertrand, additional, Tetaud, Clément, additional, Henrion, Daniel, additional, Fouquet, Olivier, additional, and Loufrani, Laurent, additional
- Published
- 2023
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15. Role of mitochondrial dynamics in abdominal aortic aneurysm
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Richard, Alexis, primary, Baptista-Vicente, Alicia, additional, Eid, Maroua, additional, Toutain-Barbelivien, Agnès, additional, Grimaud, Linda, additional, Toutain, Bertrand, additional, Tetaud, Clément, additional, Henrion, Daniel, additional, Fouquet, Olivier, additional, and Loufrani, Laurent, additional
- Published
- 2023
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16. Surgical management of a loss of pregnancy in the first trimester: Patient experience and influencing factors, a prospective observational study
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Toutain, T., primary, Philip, C-A., additional, Bollon, L., additional, Cros, M., additional, Fraissenon, A., additional, Dupont, C., additional, Gaucher, L., additional, Haesebaert, J., additional, Nohuz, E., additional, and Cortet, M., additional
- Published
- 2023
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17. Atteinte pulmonaire du déficit en alpha-1 antitrypsine. Recommandations pratiques pour le diagnostic et la prise en charge
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J.-F. Mornex, M. Balduyck, M. Bouchecareilh, A. Cuvelier, R. Epaud, M. Kerjouan, O. Le Rouzic, C. Pison, L. Plantier, M.-C. Pujazon, M. Reynaud-Gaubert, A. Toutain, B. Trumbic, M.-C. Willemin, M. Zysman, O. Brun, M. Campana, F. Chabot, V. Chamouard, M. Dechomet, J. Fauve, B. Girerd, C. Gnakamene, S. Lefrançois, J.-N. Lombard, B. Maitre, C. Maynié-François, A. Moerman, A. Payancé, P. Reix, D. Revel, M.-P. Revel, M. Schuers, P. Terrioux, D. Theron, F. Willersinn, V. Cottin, and H. Mal
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Pulmonary and Respiratory Medicine - Published
- 2022
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18. 570. Effects of Repetitive Transcranial Magnetic Stimulation on Functional Cortical Networks and Serial EEG in Pharmacoresistant Depression
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Cosmo, Camila, primary, Zandvakili, Amin, additional, Toutain, Thaise, additional, Vivas Miranda, Jose Garcia, additional, and Philip, Noah, additional
- Published
- 2023
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19. Importance of relative binding of bisphenol A and bisphenol S to plasma proteins for predicting their in vivo potencies
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Gayrard, Véronique, primary, Viguie, Catherine, additional, Cabaton, Nicolas, additional, Person, Elodie, additional, Zalko, Daniel, additional, Grandin, Flore, additional, Berrebi, Alain, additional, Metsu, David, additional, Toutain, Pierre-Louis, additional, and Picard-Hagen, Nicole, additional
- Published
- 2023
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20. Population Pharmacokinetic Meta-Analysis to Support Dosing Regimen in Dogs for Surgical Antimicrobial Prophylaxis
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Pelligand, Ludovic, primary, Møller Sørensen, Tina, additional, Cagnardi, Petra, additional, Toutain, Pierre Louis, additional, and Allerton, F., additional
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- 2023
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21. Comparison of toxicokinetic properties of eleven analogues of Bisphenol A in pig after intravenous and oral administrations
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Gély, Clémence A., primary, Lacroix, Marlène Z., additional, Roques, Béatrice B., additional, Toutain, Pierre-Louis, additional, Gayrard, Véronique, additional, and Picard-Hagen, Nicole, additional
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- 2023
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22. Role of mitochondrial dynamics in abdominal aortic aneurysm
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Alexis Richard, Alicia Baptista-Vicente, Maroua Eid, Agnès Toutain-Barbelivien, Linda Grimaud, Bertrand Toutain, Clément Tetaud, Daniel Henrion, Olivier Fouquet, and Laurent Loufrani
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Cardiology and Cardiovascular Medicine - Published
- 2023
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23. Impact of high-fat diet on mitochondrial dynamics in Abdominal Aortic Aneurysm
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Alicia Baptista Vicente, Alexis Richard, Maroua Eid, Agnès Toutain-Barbelivien, Linda Grimaud, Bertrand Toutain, Clément Tetaud, Daniel Henrion, Olivier Fouquet, and Laurent Loufrani
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Cardiology and Cardiovascular Medicine - Published
- 2023
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24. Atteinte pulmonaire du déficit en alpha-1 antitrypsine. Recommandations pratiques pour le diagnostic et la prise en charge
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Mornex, J.-F., primary, Balduyck, M., additional, Bouchecareilh, M., additional, Cuvelier, A., additional, Epaud, R., additional, Kerjouan, M., additional, Le Rouzic, O., additional, Pison, C., additional, Plantier, L., additional, Pujazon, M.-C., additional, Reynaud-Gaubert, M., additional, Toutain, A., additional, Trumbic, B., additional, Willemin, M.-C., additional, Zysman, M., additional, Brun, O., additional, Campana, M., additional, Chabot, F., additional, Chamouard, V., additional, Dechomet, M., additional, Fauve, J., additional, Girerd, B., additional, Gnakamene, C., additional, Lefrançois, S., additional, Lombard, J.-N., additional, Maitre, B., additional, Maynié-François, C., additional, Moerman, A., additional, Payancé, A., additional, Reix, P., additional, Revel, D., additional, Revel, M.-P., additional, Schuers, M., additional, Terrioux, P., additional, Theron, D., additional, Willersinn, F., additional, Cottin, V., additional, and Mal, H., additional
- Published
- 2022
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25. Rare pathogenic variants in WNK3 cause X-linked intellectual disability
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Küry, Sébastien, primary, Zhang, Jinwei, additional, Besnard, Thomas, additional, Caro-Llopis, Alfonso, additional, Zeng, Xue, additional, Robert, Stephanie M., additional, Josiah, Sunday S., additional, Kiziltug, Emre, additional, Denommé-Pichon, Anne-Sophie, additional, Cogné, Benjamin, additional, Kundishora, Adam J., additional, Hao, Le T., additional, Li, Hong, additional, Stevenson, Roger E., additional, Louie, Raymond J., additional, Deb, Wallid, additional, Torti, Erin, additional, Vignard, Virginie, additional, McWalter, Kirsty, additional, Raymond, F. Lucy, additional, Rajabi, Farrah, additional, Ranza, Emmanuelle, additional, Grozeva, Detelina, additional, Coury, Stephanie A., additional, Blanc, Xavier, additional, Brischoux-Boucher, Elise, additional, Keren, Boris, additional, Õunap, Katrin, additional, Reinson, Karit, additional, Ilves, Pilvi, additional, Wentzensen, Ingrid M., additional, Barr, Eileen E., additional, Guihard, Solveig Heide, additional, Charles, Perrine, additional, Seaby, Eleanor G., additional, Monaghan, Kristin G., additional, Rio, Marlène, additional, van Bever, Yolande, additional, van Slegtenhorst, Marjon, additional, Chung, Wendy K., additional, Wilson, Ashley, additional, Quinquis, Delphine, additional, Bréhéret, Flora, additional, Retterer, Kyle, additional, Lindenbaum, Pierre, additional, Scalais, Emmanuel, additional, Rhodes, Lindsay, additional, Stouffs, Katrien, additional, Pereira, Elaine M., additional, Berger, Sara M., additional, Milla, Sarah S., additional, Jaykumar, Ankita B., additional, Cobb, Melanie H., additional, Panchagnula, Shreyas, additional, Duy, Phan Q., additional, Vincent, Marie, additional, Mercier, Sandra, additional, Gilbert-Dussardier, Brigitte, additional, Le Guillou, Xavier, additional, Audebert-Bellanger, Séverine, additional, Odent, Sylvie, additional, Schmitt, Sébastien, additional, Boisseau, Pierre, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Colin, Estelle, additional, Pasquier, Laurent, additional, Redon, Richard, additional, Bouman, Arjan, additional, Rosenfeld, Jill. A., additional, Friez, Michael J., additional, Pérez-Peña, Helena, additional, Akhtar Rizvi, Syed Raza, additional, Haider, Shozeb, additional, Antonarakis, Stylianos E., additional, Schwartz, Charles E., additional, Martínez, Francisco, additional, Bézieau, Stéphane, additional, Kahle, Kristopher T., additional, and Isidor, Bertrand, additional
- Published
- 2022
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26. Surgical management of a loss of pregnancy in the first trimester: Patient experience and influencing factors, a prospective observational study
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T. Toutain, C-A. Philip, L. Bollon, M. Cros, A. Fraissenon, C. Dupont, L. Gaucher, J. Haesebaert, E. Nohuz, and M. Cortet
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Reproductive Medicine ,Obstetrics and Gynecology - Published
- 2023
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27. Violences au cours de la vie, vécu des grossesses et consommation d’alcool et de pemba des femmes en Guyane française
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L. Simmat-Durand and S. Toutain
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03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,030227 psychiatry - Abstract
Resume Objectifs Une enquete a ete menee dans les maternites de la Guyane francaise en 2017–2018 sur les consommations de tabac, d’alcool et de pemba (argile) ainsi que sur les violences et la perception de situations negatives au cours de la grossesse. Methodes Un questionnaire a ete concu interrogeant sur les consommations, le vecu de la grossesse, les conditions sociodemographiques des femmes en post-partum. Il comporte egalement des questions du T-Ace ainsi que d’autres visant a reperer les situations a risques pendant les grossesses. Resultats Les 789 femmes interrogees etaient, en moyenne, plus jeunes a l’accouchement qu’en France metropolitaine, moins souvent mariees et scolarisees, plus frequemment etrangeres, notamment Haitiennes ou Surinamiennes. Parmi elles, 22 % avaient ete victimes de violences au cours de leur vie. Elles se distinguaient du profil moyen par leur langue maternelle, etat matrimonial, nationalite, et sources de revenus. Un groupe sur les trois degages se demarquait par la part des victimes de violences (pres 50 %). Les femmes y etaient le plus souvent etrangeres, non consommatrices de substances psychoactives, residentes de la region de Cayenne, celibataires avec des enfants, disposant d’un faible niveau d’education, et avec des difficultes a faire face a cette grossesse. Conclusion Au sein de ce groupe de femmes victimes de violences, un sous-groupe se degage cumulant des facteurs de vulnerabilite : precarite, celibat, nationalite etrangere, absence de ressources et de suivi medical, migration recente. Ayant davantage recours a des IVG repetees, elles constituent egalement un groupe plus a risques de maladies sexuellement transmissibles.
- Published
- 2021
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28. Avis motivé du médecin du travail en vue de la reconnaissance en maladie professionnelle des affections psychiques : un rôle déterminant mais source de difficultés
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M.A. Renoux, S. Toutain, N. Fatih, and C. Paris
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Public Health, Environmental and Occupational Health - Abstract
Resume La souffrance au travail et sa reconnaissance en maladie professionnelle constituent un enjeu de sante publique. L’avis motive du medecin du travail est une piece a rechercher obligatoirement et a verser au dossier de demande de reconnaissance en maladie professionnelle transmis au CRRMP. L’objectif de cette etude a ete d’analyser la pratique de medecins du travail quant a l’imputabilite professionnelle des psychopathologies, au travers de la redaction de cet avis motive. Une analyse descriptive de 91 dossiers issus du CRRMP de Bretagne a ete realisee ainsi qu’une analyse de pratique par entretiens semi-diriges aupres de 13 medecins du travail bretons. Il a ete montre une concordance forte entre avis du medecin du travail et decision finale du CRRMP et une association statistique entre les arguments developpes par le medecin pour appuyer le lien direct (mais pas le lien essentiel), et la decision de reconnaissance. Malgre cela, les praticiens interroges ont evoque un certain nombre de freins a la redaction de leur avis motive. Afin de limiter l’autocensure que ces difficultes generent, une nouvelle fiche de recueil de cet avis motive a notamment ete proposee.
- Published
- 2021
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29. Importance of relative binding of bisphenol A and bisphenol S to plasma proteins for predicting their in vivo potencies
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Véronique Gayrard, Catherine Viguie, Nicolas Cabaton, Elodie Person, Daniel Zalko, Flore Grandin, Alain Berrebi, David Metsu, Pierre-Louis Toutain, and Nicole Picard-Hagen
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Pharmacology ,Toxicology - Published
- 2023
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30. 570. Effects of Repetitive Transcranial Magnetic Stimulation on Functional Cortical Networks and Serial EEG in Pharmacoresistant Depression
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Camila Cosmo, Amin Zandvakili, Thaise Toutain, Jose Garcia Vivas Miranda, and Noah Philip
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Biological Psychiatry - Published
- 2023
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31. Quality of life and mental health of adolescents and adults with Silver-Russell syndrome
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Burgevin, Mélissa, primary, Lacroix, Agnès, additional, Bourdet, Karine, additional, Coutant, Régis, additional, Donadille, Bruno, additional, Faivre, Laurence, additional, Manouvrier-Hanu, Sylvie, additional, Petit, Florence, additional, Thauvin-Robinet, Christel, additional, Toutain, Annick, additional, Netchine, Irène, additional, and Odent, Sylvie, additional
- Published
- 2022
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32. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, CORMIER-DAIRE, Valerie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gérard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Philip, K, Legendre, Marine, Le Quan Sang, K., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David, Khau Van Kien, Philippe, Van Gils, Julie, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Paris Descartes - Paris 5 (UPD5), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Robert Debré Paris, Hôpital Robert Debré, Service de Génétique Médicale, Hôpital intercommunal de Font-Pré, Centre hospitalier universitaire de Nantes (CHU Nantes), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Muscle et Pathologies, [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de génétique clinique, Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], CHU Bordeaux [Bordeaux], Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Génétique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hydrosciences Montpellier (HSM), Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Recherche pour le Développement (IRD)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence car i b é en des maladies rares neuromusculaires et neurologiques adultes et enfant (CERCA), Hôpital Pierre Zobda Quitman-CHU Fort-de-France, U 1211 Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (MRGM), Immunité et cancer (U932), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire régional de télédétection, Institut de Recherche pour le Développement (IRD), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), AOM 07-090, Ministère de la Santé et des Services sociaux, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), gerard, marion, Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), and Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)
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Male ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Vitiligo ,Severity of Illness Index ,Hypogammaglobulinemia ,0302 clinical medicine ,Prevalence ,Medicine ,KDM6A ,Registries ,Child ,[SDV.BDD]Life Sciences [q-bio]/Development Biology ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Immunodeficiency ,Histone Demethylases ,0303 health sciences ,Genetic disorder ,KMT2D ,Middle Aged ,Thrombocytopenic purpura ,Neoplasm Proteins ,3. Good health ,DNA-Binding Proteins ,Vestibular Diseases ,Child, Preschool ,Female ,Autoimmune hemolytic anemia ,Adult ,medicine.medical_specialty ,Adolescent ,Primary Immunodeficiency Diseases ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,Autoimmune Diseases ,Young Adult ,03 medical and health sciences ,[SDV.BDD] Life Sciences [q-bio]/Development Biology ,Humans ,Abnormalities, Multiple ,Genetic Association Studies ,Aged ,030304 developmental biology ,Autoimmune disease ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Kabuki syndrome ,business.industry ,Infant, Newborn ,Infant ,medicine.disease ,Hematologic Diseases ,immunity ,Dermatology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Face ,Mutation ,business ,030217 neurology & neurosurgery - Abstract
Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency and severity of the manifestations, we measured the prevalence of immunopathological manifestations as well as genotype–phenotype correlations in KS individuals from a registry. Data were for 177 KS individuals with KDM6A or KMT2D pathogenic variants. Questionnaires to clinicians were used to assess the presence of immunodeficiency and autoimmune diseases both on a clinical and biological basis. Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively; 13.6% (24/177) had autoimmune disease (AID; 25.6% [11/43] in adults), 5.6% (10/177) with ≥2 AID manifestations. The most frequent AID manifestations were immune thrombocytopenic purpura (7.3% [13/177]) and autoimmune hemolytic anemia (4.0% [7/177]). Among nonhematological manifestations, vitiligo was frequent. Immune thrombocytopenic purpura was frequent with missense versus other types of variants (p = 0.027). The high prevalence of immunopathological manifestations in KS demonstrates the importance of systematic screening and efficient preventive management of these treatable and sometimes life-threatening conditions.
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- 2020
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33. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
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Küry, Sébastien, primary, Ebstein, Frédéric, additional, Mollé, Alice, additional, Besnard, Thomas, additional, Lee, Ming-Kang, additional, Vignard, Virginie, additional, Hery, Tiphaine, additional, Nizon, Mathilde, additional, Mancini, Grazia M.S., additional, Giltay, Jacques C., additional, Cogné, Benjamin, additional, McWalter, Kirsty, additional, Deb, Wallid, additional, Mor-Shaked, Hagar, additional, Li, Hong, additional, Schnur, Rhonda E., additional, Wentzensen, Ingrid M., additional, Denommé-Pichon, Anne-Sophie, additional, Fourgeux, Cynthia, additional, Verheijen, Frans W., additional, Faurie, Eva, additional, Schot, Rachel, additional, Stevens, Cathy A., additional, Smits, Daphne J., additional, Barr, Eileen, additional, Sheffer, Ruth, additional, Bernstein, Jonathan A., additional, Stimach, Chandler L., additional, Kovitch, Eliana, additional, Shashi, Vandana, additional, Schoch, Kelly, additional, Smith, Whitney, additional, van Jaarsveld, Richard H., additional, Hurst, Anna C.E., additional, Smith, Kirstin, additional, Baugh, Evan H., additional, Bohm, Suzanne G., additional, Vyhnálková, Emílie, additional, Ryba, Lukáš, additional, Delnatte, Capucine, additional, Neira, Juanita, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Rosenfeld, Jill A., additional, Audebert-Bellanger, Séverine, additional, Gilbert-Dussardier, Brigitte, additional, Odent, Sylvie, additional, Laumonnier, Frédéric, additional, Berger, Seth I., additional, Smith, Ann C.M., additional, Bourdeaut, Franck, additional, Stern, Marc-Henri, additional, Redon, Richard, additional, Krüger, Elke, additional, Margueron, Raphaël, additional, Bézieau, Stéphane, additional, Poschmann, Jeremie, additional, and Isidor, Bertrand, additional
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- 2022
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34. Study of peritectic compound Li4(OH)3Br for high temperature thermal energy storage in solar power applications
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Mahroug, Imane, primary, Doppiu, Stefania, additional, Dauvergne, Jean-Luc, additional, Echeverria, Maria, additional, Toutain, Jean, additional, and Palomo del Barrio, Elena, additional
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- 2021
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35. Development of a new LiBr/LiOH-based alloy for thermal energy storage
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Jean Toutain, Stanislav Pechev, Elena Palomo Del Barrio, Eric Lebraud, Fouzia Achchaq, Institut de Mécanique et d'Ingénierie de Bordeaux (I2M), Institut National de la Recherche Agronomique (INRA)-Université de Bordeaux (UB)-École Nationale Supérieure d'Arts et Métiers (ENSAM), Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Institut Polytechnique de Bordeaux-Centre National de la Recherche Scientifique (CNRS), CICEnergigune, Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), ANR-16-CE06-0012,Pc2TES,Composés péritectiques pour le stockage compact de l'énergie thermique à haute température(2016), École Nationale Supérieure d'Arts et Métiers (ENSAM), HESAM Université (HESAM)-HESAM Université (HESAM)-Institut Polytechnique de Bordeaux-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), and Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux-Centre National de la Recherche Scientifique (CNRS)
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Energy storage ,Materials science ,LiBr/LiOH phase diagram ,Alloy ,Thermodynamics ,02 engineering and technology ,engineering.material ,010402 general chemistry ,Thermal energy storage ,7. Clean energy ,01 natural sciences ,Differential scanning calorimetry ,General Materials Science ,Thermal analysis ,Peritectic compound ,Phase diagram ,[CHIM.MATE]Chemical Sciences/Material chemistry ,General Chemistry ,021001 nanoscience & nanotechnology ,Condensed Matter Physics ,Thermodynamic property ,0104 chemical sciences ,13. Climate action ,Energy density ,engineering ,0210 nano-technology ,Powder diffraction - Abstract
International audience; In this study, the LiBr/LiOH phase diagram and the key related thermodynamic properties of its specific compounds were theoretically and experimentally estimated (by thermodynamic modeling and differential scanning calorimetry experiments, respectively) and compared with previously reported results. The peritectic compound Li4Br(OH)3 was identified as a highly promising candidate for heat storage applications at around 300 °C, mainly because of its outstanding energy density. As a precaution, the two limiting cases of thermodynamic solidification simulations (equilibrium and Scheil–Gulliver cooling conditions) were considered to confirm the relevance of synthesizing and experimentally studying this new potential heat storage material. After many tests and adjustments, a suitable synthesis protocol was developed and validated for characterizing the Li4Br(OH)3 compound using the X-ray powder diffraction technique. Preliminary thermal analysis was also performed for the successfully synthesized peritectic compound to confirm its high potential as a heat storage material. Our results indicate that it would be useful to comprehensive analyze the thermophysical properties of this material to assess its capacity for utilization in thermal energy storage applications.
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- 2019
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36. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
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Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sainte Justine [Montréal], Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Mayo Clinic [Rochester], University of California [San Francisco] (UCSF), University of California, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Johns Hopkins University School of Medicine [Baltimore], Kennedy Krieger Institute [Baltimore], Chapel Allerton Hospital, University of British Columbia (UBC), University of Dundee, Rush University Medical Center [Chicago], Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Virginia [Charlottesville], Texas Children's Hospital [Houston, USA], Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania [Philadelphia], National Human Genome Research Institute (NHGRI), Harvard Medical School [Boston] (HMS), Karolinska University Hospital [Stockholm], Duke University Medical Center, University of Groningen [Groningen], University of Arkansas for Medical Sciences (UAMS), McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University [New York], University of Southern Queensland (USQ), Telemark Hospital Trust [Skien, Norway], University of Washington [Seattle], Oslo University Hospital [Oslo], Children’s Hospital of Philadelphia (CHOP ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center [Nijmegen], Ann & Robert H. Lurie Children's Hospital of Chicago, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers (CHU Poitiers), University of Alberta, Boston Children's Hospital, McGill University Health Center [Montreal] (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Creighton University Medical School [Omaha, NE, USA], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, BC Children’s Hospital Foundation, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, R01MH101221, National Institute of Mental Health, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Oxford, University of California [San Francisco] (UC San Francisco), University of California (UC), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, University of Pennsylvania, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CCSD, Accord Elsevier, Faculteit Medische Wetenschappen/UMCG, Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
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CHROMATIN ,Male ,0301 basic medicine ,Autism ,Sequence Homology ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Medical and Health Sciences ,0302 clinical medicine ,SCHIZOPHRENIA ,Gene expression ,2.1 Biological and endogenous factors ,Missense mutation ,Aetiology ,Child ,de novo variants ,Genetics (clinical) ,Pediatric ,Genetics & Heredity ,Genetics ,biology ,neurodevelopmental disorders ,histone acetylation ,Adaptor Proteins ,Nuclear Proteins ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,Syndrome ,Biological Sciences ,Prognosis ,Phenotype ,Chromatin ,Mental Health ,Histone ,intellectual disability ,Child, Preschool ,Female ,REGULATOR ,congenital malformations ,Rare cancers Radboud Institute for Health Sciences [Radboudumc 9] ,BRAIN-DEVELOPMENT ,Adult ,Adolescent ,Histone acetyltransferase complex ,Intellectual and Developmental Disabilities (IDD) ,Mutation, Missense ,Deciphering Developmental Disorders study ,autism spectrum disorder ,KAT6B ,RNAI SCREEN ,Young Adult ,03 medical and health sciences ,CAUSES Study ,Rare Diseases ,Intellectual Disability ,Report ,COFACTOR ,medicine ,RUBINSTEIN-TAYBI-SYNDROME ,Humans ,Amino Acid Sequence ,Autistic Disorder ,Preschool ,Gene ,Genetic Association Studies ,Adaptor Proteins, Signal Transducing ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Rubinstein–Taybi syndrome ,Signal Transducing ,Neurosciences ,Infant ,medicine.disease ,TRRAP ,Brain Disorders ,SELF-RENEWAL ,030104 developmental biology ,DE-NOVO MUTATIONS ,Mutation ,biology.protein ,Missense ,030217 neurology & neurosurgery - Abstract
Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.
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- 2019
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37. LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability
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Sylviane Marouillat, Rose-Anne Thépault, Frédéric Laumonnier, Annick Toutain, Patrick Vourc'h, H. Cubéros, Béatrice Vallée, Hélène Bénédetti, Martine Raynaud, Christian R. Andres, Frédérique Bonnet-Brilhault, Julie Tastet, University Medical Center [Utrecht], Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de biophysique moléculaire (CBM), Université d'Orléans (UO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Equipe neurogénétique et neurométabolomique, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), German Aerospace Center (DLR), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)
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Central Nervous System ,Models, Molecular ,0301 basic medicine ,Gene isoform ,Neurite ,[SDV]Life Sciences [q-bio] ,Neuronal Outgrowth ,Phosphatase ,Central nervous system ,Mutation, Missense ,Sequence Homology ,Biology ,Lim kinase ,Mice ,03 medical and health sciences ,0302 clinical medicine ,Intellectual Disability ,Intellectual disability ,medicine ,Animals ,Protein Isoforms ,Missense mutation ,Coding region ,Genetic Predisposition to Disease ,Amino Acid Sequence ,Cells, Cultured ,Neurons ,General Neuroscience ,Lim Kinases ,Hominidae ,medicine.disease ,Rats ,Cell biology ,030104 developmental biology ,medicine.anatomical_structure ,030217 neurology & neurosurgery - Abstract
International audience; LIMK2 is involved in neuronal functions by regulating actin dynamics. Different isoforms of LIMK2 are described in databanks. LIMK2a and LIMK2b are the most characterized. A few pieces of evidence suggest that LIMK2 isoforms might not have overlapping functions. In this study, we focused our attention on a less studied human LIMK2 isoform, LIMK2-1. Compared to the other LIMK2 isoforms, LIMK2-1 contains a supplementary C-terminal phosphatase 1 inhibitory domain (PP1i). We found out that this isoform was hominidae-specific and showed that it was expressed in human fetal brain and faintly in adult brain. Its coding sequence was sequenced in 173 patients with sporadic non-syndromic intellectual disability (ID), and we observed an association of a rare missense variant in the PP1i domain (rs151191437, p.S668P) with ID. Our results also suggest an implication of LIMK2-1 in neurite outgrowth and neurons arborization which appears to be affected by the p.S668P variation. Therefore our results suggest that LIMK2-1 plays a role in the developing brain, and that a rare variation of this isoform is a susceptibility factor in ID.
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- 2019
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38. Violences au cours de la vie, vécu des grossesses et consommation d’alcool et de pemba des femmes en Guyane française
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Simmat-Durand, L., primary and Toutain, S., additional
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- 2021
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39. A new LC/MS method for specific determination of human systemic exposure to bisphenol A, F and S through their metabolites: Application to cord blood samples
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Gély, C.A., primary, Huesca, A., additional, Picard-Hagen, N., additional, Toutain, P.L., additional, Berrebi, A., additional, Gauderat, G., additional, Gayrard, V., additional, and Lacroix, M.Z., additional
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- 2021
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40. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
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Jeanne, Médéric, primary, Demory, Hélène, additional, Moutal, Aubin, additional, Vuillaume, Marie-Laure, additional, Blesson, Sophie, additional, Thépault, Rose-Anne, additional, Marouillat, Sylviane, additional, Halewa, Judith, additional, Maas, Saskia M., additional, Motazacker, M. Mahdi, additional, Mancini, Grazia M.S., additional, van Slegtenhorst, Marjon A., additional, Andreou, Avgi, additional, Cox, Helene, additional, Vogt, Julie, additional, Laufman, Jason, additional, Kostandyan, Natella, additional, Babikyan, Davit, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Sedlacek, Zdenek, additional, Aldinger, Kimberly A., additional, Sherr, Elliott H., additional, Argilli, Emanuela, additional, England, Eleina M., additional, Audebert-Bellanger, Séverine, additional, Bonneau, Dominique, additional, Colin, Estelle, additional, Denommé-Pichon, Anne-Sophie, additional, Gilbert-Dussardier, Brigitte, additional, Isidor, Bertrand, additional, Küry, Sébastien, additional, Odent, Sylvie, additional, Redon, Richard, additional, Khanna, Rajesh, additional, Dobyns, William B., additional, Bézieau, Stéphane, additional, Honnorat, Jérôme, additional, Lohkamp, Bernhard, additional, Toutain, Annick, additional, and Laumonnier, Frédéric, additional
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- 2021
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41. Avis motivé du médecin du travail en vue de la reconnaissance en maladie professionnelle des affections psychiques : un rôle déterminant mais source de difficultés
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Fatih, N., primary, Paris, C., additional, Toutain, S., additional, and Renoux, M.A., additional
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- 2021
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42. Physical resilience to insider attacks in IoT networks: Independent cryptographically secure sequences for DSSS anti-jamming
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Navas, Renzo E., primary, Cuppens, Frédéric, additional, Boulahia Cuppens, Nora, additional, Toutain, Laurent, additional, and Papadopoulos, Georgios Z., additional
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- 2021
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43. Association between D-Dimer levels and mortality in patients with coronavirus disease 2019 (COVID-19): a systematic review and pooled analysis
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Jean M. Connors, Dominique Farge, Corinne Frere, Guillaume Hékimian, M. Sakka, I. Colmegna, B. Crichi, D. Bonnefont-Rousselot, I. Martin-Toutain, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Paris (UP), Unité de Technologies Chimiques et Biologiques pour la Santé (UTCBS - UM 4 (UMR 8258 / U1022)), Institut de Chimie du CNRS (INC)-Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Dana-Farber Cancer Institute [Boston], Harvard Medical School [Boston] (HMS), McGill University = Université McGill [Montréal, Canada], Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Recherche clinique appliquée à l'hématologie ((EA_3518)), Université Paris Diderot - Paris 7 (UPD7), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], and CCSD, Accord Elsevier
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Male ,medicine.medical_specialty ,[SDV]Life Sciences [q-bio] ,Pneumonia, Viral ,030204 cardiovascular system & hematology ,Risk Assessment ,Severity of Illness Index ,Article ,Fibrin Fibrinogen Degradation Products ,D-Dimer ,03 medical and health sciences ,Betacoronavirus ,0302 clinical medicine ,Internal medicine ,Severity of illness ,Risk of mortality ,medicine ,Humans ,030212 general & internal medicine ,Mortality ,Pandemics ,Survival analysis ,IQR, interquartile range ,Retrospective Studies ,Coronavirus disease 2019 ,business.industry ,SARS-CoV-2 ,ADRS, acute detress respiratory syndrome ,COVID-19 ,Retrospective cohort study ,Middle Aged ,Survival Analysis ,Confidence interval ,3. Good health ,NR, not reported ,Hospitalization ,[SDV] Life Sciences [q-bio] ,Strictly standardized mean difference ,COVID-19, Coronavirus Disease 2019 ,biomarker ,Observational study ,Female ,Risk assessment ,business ,Coronavirus Infections ,Cardiology and Cardiovascular Medicine ,Biomarkers - Abstract
International audience; Background: Several observational studies have reported elevated baseline D-dimer levels in patients hospitalized for moderate to severe coronavirus disease 2019 (COVID-19). These elevated baseline D-dimer levels have been associated with disease severity and mortality in retrospective cohorts.Objectives: To review current available data on the association between D-Dimer levels and mortality in patients admitted to hospital for COVID-19.Methods: We performed a systematic review of published studies using MEDLINE and EMBASE through 13 April 2020. Two authors independently screened all records and extracted the outcomes. A random effects model was used to estimate the standardized mean difference (SMD) with 95% confidence intervals (CI).Results: Six original studies enrolling 1355 hospitalized patients with moderate to critical COVID-19 (391 in the non-survivor group and 964 in the survivor group) were considered for the final pooled analysis. When pooling together the results of these studies, D-Dimer levels were found to be higher in non-survivors than in-survivors. The SMD in D-Dimer levels between non-survivors and survivors was 3.59μg/L (95% CI 2.79-4.40μg/L), and the Z-score for overall effect was 8.74 (P
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- 2020
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44. Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability
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Anne Boland, Benjamin Cogné, Annick Toutain, Frédéric Laumonnier, Jean-François Deleuze, Marie-Laure Vuillaume, Stéphane Bézieau, Médéric Jeanne, D. Quinquis, Richard Redon, Dévina C. Ung, and Thomas Besnard
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Adult ,0301 basic medicine ,Autism Spectrum Disorder ,Clinical Biochemistry ,030105 genetics & heredity ,Biology ,Biochemistry ,03 medical and health sciences ,Seizures ,Intellectual Disability ,medicine ,Humans ,RNA, Messenger ,Gene ,Chromosomal inversion ,Genetics ,Whole genome sequencing ,Language Disorders ,Whole Genome Sequencing ,Biochemistry (medical) ,Chromosome ,Forkhead Transcription Factors ,General Medicine ,FOXP1 ,medicine.disease ,Phenotype ,Repressor Proteins ,030104 developmental biology ,Autism spectrum disorder ,Mutation ,Female ,Haploinsufficiency - Abstract
The FOXP1 gene, located on chromosome 3p13, encodes the Forkhead-box protein P1, one of the four forkhead transcription factors which repress transcription by forming active homo- and heterodimers and regulate distinct patterns of gene expression crucial for embryogenesis and normal development. FOXP1 mutations, mostly truncating, have been described in patients with mild to moderate intellectual disability (ID), autism spectrum disorder (ASD), and speech and language impairment (MIM #613670). Here, we report a small de novo heterozygous balanced inversion of 2.1 Mb located at 3p14.1p13 identified by Whole Genomic Sequencing (WGS) and disrupting the genes FAM19A4 and FOXP1. This inversion was found in a patient with severe ID, ASD, seizures and very unusual vascular anomalies which were never described in the clinical spectrum of FOXP1 mutations. We show that the neurodevelopmental phenotype observed in the patient most likely results from FOXP1 haploinsufficiency as this heterozygous inversion leads to a 60 to 85% decrease of FOXP1 mRNA levels and to the complete absence of FOXP1 full-length protein. These findings, in addition to expanding the molecular spectrum of FOXP1 mutations, emphasize the emerging role of WGS in identifying small balanced chromosomal rearrangements responsible for neurodevelopmental disorders and not detected by conventional cytogenetics.
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- 2018
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45. Assessment of behavioural deficits following ischaemic stroke in the marmoset
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Omar Touzani, Jérôme Toutain, Rozenn Le Gal, Myriam Bernaudin, Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), and Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)
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0301 basic medicine ,medicine.medical_specialty ,Disease ,Brain Ischemia ,Functional deficits ,03 medical and health sciences ,Behavioral Neuroscience ,0302 clinical medicine ,Physical medicine and rehabilitation ,Behavioural testing ,Ischemia ,biology.animal ,Ischaemic stroke ,medicine ,Animals ,Humans ,Stroke ,Behavior ,Psychological Tests ,biology ,[SCCO.NEUR]Cognitive science/Neuroscience ,Marmoset ,Callithrix ,Sensorimotor tests ,medicine.disease ,biology.organism_classification ,Disease Models, Animal ,030104 developmental biology ,Animal studies ,Psychology ,Common marmoset ,Neuroscience ,030217 neurology & neurosurgery - Abstract
Stroke is a common and devastating disease worldwide. Over the last two decades, many therapeutic approaches to ameliorate ischaemic stroke have been promising in animal studies but failed when transferred to the clinical situation. One of the possible explanations for these failures is the widespread use of animal models of cerebral ischemia that do not mimic the pathology encountered in the clinic. Accordingly, many expert committees recommended the integration of higher order species such as non-human primates in pre-clinical stroke studies. The common marmoset (Callithrix jacchus), a small New World monkey, start to stand out in the neuroscience field as a good compromise between larger primates and rodents. In this review, we discuss the relevance of the use of the marmoset in stroke studies. We will focus on behavioural tests developed in this species to assess sensorimotor deficits and their recovery during acute and chronic stages of brain ischaemia. The aim of this appraisal is to provide a comprehensive overview of the existing approaches to induce stroke in the marmoset as well as the paradigms for behavioural testing in this species. The data summarized in this review should contribute to the improvement of future stoke studies in the marmoset and accordingly improve the translation of the results from bench to bed.
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- 2018
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46. Scabies in an obese patient: How should the ivermectin dosing be adapted?
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Guillaume Mellon, A Lespine, P L Toutain, Anne Dulioust, L. Hermet, Etablissement Public de Santé National de Fresnes, Partenaires INRAE, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Innovations Thérapeutiques et Résistances (InTheRes), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
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medicine.medical_specialty ,Ivermectin ,Ivermectine ,business.industry ,[SDV]Life Sciences [q-bio] ,medicine.disease ,030226 pharmacology & pharmacy ,Dermatology ,Gale ,Patients obèses ,Scabies ,03 medical and health sciences ,0302 clinical medicine ,Infectious Diseases ,medicine ,030212 general & internal medicine ,Dosing ,Obese patients ,business ,ComputingMilieux_MISCELLANEOUS ,medicine.drug - Abstract
International audience
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- 2019
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47. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
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Lenaerts, Lisa, primary, Reynhout, Sara, additional, Verbinnen, Iris, additional, Laumonnier, Frédéric, additional, Toutain, Annick, additional, Bonnet-Brilhault, Frédérique, additional, Hoorne, Yana, additional, Joss, Shelagh, additional, Chassevent, Anna K., additional, Smith-Hicks, Constance, additional, Loeys, Bart, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Mehta, Sarju G., additional, Chung, Wendy K., additional, Devriendt, Koenraad, additional, Holder, Susan E., additional, Jewett, Tamison, additional, Baldwin, Lauren M., additional, Wilson, William G., additional, Towner, Shelley, additional, Srivastava, Siddharth, additional, Johnson, Hannah F., additional, Daumer-Haas, Cornelia, additional, Baethmann, Martina, additional, Ruiz, Anna, additional, Gabau, Elisabeth, additional, Jain, Vani, additional, Varghese, Vinod, additional, Al-Beshri, Ali, additional, Fulton, Stephen, additional, Wechsberg, Oded, additional, Orenstein, Naama, additional, Prescott, Katrina, additional, Childs, Anne-Marie, additional, Faivre, Laurence, additional, Moutton, Sébastien, additional, Sullivan, Jennifer A., additional, Shashi, Vandana, additional, Koudijs, Suzanne M., additional, Heijligers, Malou, additional, Kivuva, Emma, additional, McTague, Amy, additional, Male, Alison, additional, van Ierland, Yvette, additional, Plecko, Barbara, additional, Maystadt, Isabelle, additional, Hamid, Rizwan, additional, Hannig, Vickie L., additional, Houge, Gunnar, additional, and Janssens, Veerle, additional
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- 2021
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48. Antiphospholipid antibodies and thrombotic events in COVID-19 patients hospitalized in medicine ward
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Le Joncour, Alexandre, primary, Frere, Corinne, additional, Martin-Toutain, Isabelle, additional, Gougis, Paul, additional, Ghillani-Dalbin, Pascale, additional, Maalouf, Georgina, additional, Vieira, Matheus, additional, Marcelin, Anne-Geneviève, additional, Salem, Joe-Elie, additional, Allenbach, Yves, additional, Saadoun, David, additional, Benveniste, Olivier, additional, and Cacoub, Patrice, additional
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- 2021
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49. The impact of the Next Generation Sequencing strategy in the diagnosis of two rare causes of hypertrophic cardiomyopathy: Fabry disease and hereditary transthyretin amyloidosis (ATTR)
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Koraichi, F., primary, Ader, F., additional, Donal, E., additional, Bordet, C., additional, De Groote, P., additional, Moerman, A., additional, Faivre, L., additional, Réant, P., additional, Thambo, C., additional, Toutain, A., additional, Babuty, D., additional, Palmyre, A., additional, Nguyen, K., additional, Isidor, B., additional, Brehin, A., additional, Pruny, J., additional, Isnard, R., additional, Richard, P., additional, and Charron, P., additional
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- 2021
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50. Impacts of national scale digital soil mapping programs in France
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Arrouays, Dominique, primary, Richer-de-Forges, Anne C., additional, Héliès, Florence, additional, Mulder, Vera Leatitia, additional, Saby, Nicolas P.A., additional, Chen, Songchao, additional, Martin, Manuel P., additional, Román Dobarco, Mercedes, additional, Follain, Stéphane, additional, Jolivet, Claudy, additional, Laroche, Bertrand, additional, Loiseau, Thomas, additional, Cousin, Isabelle, additional, Lacoste, Marine, additional, Ranjard, Lionel, additional, Toutain, Benoît, additional, Le Bas, Christine, additional, Eglin, Thomas, additional, Bardy, Marion, additional, Antoni, Véronique, additional, Meersmans, Jeroen, additional, Ratié, Céline, additional, and Bispo, Antonio, additional
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- 2020
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