Zobrazeno 1 - 10
of 1 253
pro vyhledávání: '"Férec Claude"'
Autor:
Uguen, Kevin, Le Tertre, Marlène, Tchernitchko, Dimitri, Elbahnsi, Ahmad, Maestri, Sandrine, Gourlaouen, Isabelle, Férec, Claude, Ka, Chandran, Callebaut, Isabelle, Le Gac, Gérald
Publikováno v:
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Autor:
Masson, Emmanuelle, Maestri, Sandrine, Bordeau, Valérie, Cooper, David N., Férec, Claude, Chen, Jian-Min
Publikováno v:
In The American Journal of Human Genetics 3 October 2024 111(10):2176-2189
Autor:
Dermine, Solène, Masson, Emmanuelle, Girodon-Boulandet, Emmanuelle, Bienvenu, Thierry, Férec, Claude, Lévy, Philippe, Rebours, Vinciane
Publikováno v:
In Clinics and Research in Hepatology and Gastroenterology June 2024 48(6)
Autor:
Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle
Publikováno v:
In Genetics in Medicine May 2024 26(5)
Publikováno v:
Human Genomics, Vol 6, Iss 1, p 8 (2012)
Externí odkaz:
https://doaj.org/article/9a472114c372442b97b48af86863753d
Autor:
Scotet Virginie, Duguépéroux Ingrid, Saliou Philippe, Rault Gilles, Roussey Michel, Audrézet Marie-Pierre, Férec Claude
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 14 (2012)
Abstract Background Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a better monitoring of th
Externí odkaz:
https://doaj.org/article/7ef5b1ddef2d4aabbf8f3301e3b3041e
Autor:
Eiseler, Katharina, Neppl, Lea, Schmidt, Andreas W., Rauscher, Beate, Ewers, Maren, Masson, Emmanuelle, Chen, Jian-Min, Férec, Claude, Rebours, Vinciane, Grammatikopoulos, Tassos, Foskett, Pierre, Greenhalf, William, Halloran, Christopher, Neoptolemos, John, Haack, Tobias B., Ossowski, Stephan, Sturm, Marc, Rosendahl, Jonas, Laumen, Helmut, Witt, Heiko
Publikováno v:
In Pancreatology December 2023 23(8):957-963
Autor:
Ka Chandran, Chanu Brigitte, Mercier Anne-Yvonne, Mérour Marie-Christine, Le Gac Gérald, Scotet Virginie, Mura Catherine, Nousbaum Jean-Baptiste, Férec Claude
Publikováno v:
BMC Medical Genetics, Vol 6, Iss 1, p 24 (2005)
Abstract Background Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way t
Externí odkaz:
https://doaj.org/article/80ad175f30624eba90c65954b1fe7d9c
Autor:
Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Buscail, Louis, Cadiot, Guillaume, Camus, Marine, Causse, Xavier, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, De Mestier, Louis, Degand, Thibault, D'Engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Romain, Drouet D'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gargot, Dany, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimaldi, Stéphane, Grimbert, Sylvie, Hagege, Hervé, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Hervouet, Marc, Hoibian, Solene, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lacroute, Joël, Lamireau, Thierry, Laurent, Lucie, Le Guillou, Xavier, Le Rhun, Marc, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Maire, Frédérique, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Nambot, Sophie, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pinard, Fabien, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Reboux, Noemi, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Thomassin, Lucie, Tougeron, David, Tsakiris, Laurent, Valats, Jean-Christophe, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zanaldi, Hélène, Zerbib, Frank, Bai, Chen-Guang, Bian, Yun, Cai, Zhen-Zhai, Chang, Xiao-Yan, Chen, Guo-Dong, Cheng, Li, Chen, Yu, Guo, Jin-Tao, Guo, Tao, Han, Jun-Ling, He, Chao-Hui, Hu, Liang-Hao, Huang, Hao-Jie, Huang, Li, Huang, Li-Ya, Huang, Si-Lin, Huang, Wei, Jiang, Fei, Jiang, Hui, Lu, Feng-Chun, Lu, Guo-Tao, Lu, Zi-Peng, Li, Hui-Ping, Li, Jing, Li, Le, Li, Qiang, Li, Xiao-Yu, Lin, Qing, Lin, Yu-Li, Liu, Gai-Fang, Liu, Jie-Min, Liu, Li-Xin, Liu, Pi, Liu, Yi-Pin, Lu, Dong, Shao, Xiao-Dong, Shao, Zhuo, Song, Xu-Rui, Wang, Lei, Wang, Li-Juan, Wang, Li-Sheng, Wang, Lin, Wang, Wei, Wang, Zheng, Wen, Li, Wu, Xi, Xin, Lei, Xue, Jing, Yang, Hong, Yang, Jian-Feng, Yin, Tao, Zhang, Bei-Ping, Zhang, Guo-Wei, Zhang, Hong, Zhang, Rong-Chun, Zhao, Yi-Jun, Zhou, Si-Si, Zhu, Ke-Xiang, Masson, Emmanuelle, Zou, Wen-Bin, Pu, Na, Génin, Emmanuelle, Wu, Hao, Lin, Jin-Huan, Wang, Yuan-Chen, Li, Zhao-Shen, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian-Min
Publikováno v:
In Pancreatology August 2023 23(5):491-506
Publikováno v:
BMC Genetics, Vol 2, Iss 1, p 19 (2001)
Abstract Background R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature trypsin activation within the pancreas. Disruption of this s
Externí odkaz:
https://doaj.org/article/2bcb2ce8b65646a68f48dc2ace9b7291